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Catarata não-sindrômica de início precoce
ORPHA:91492CID-10 · Q12.0CID-11 · LA12.1OMIM 601371DOENÇA RARA

A catarata de início precoce e não sindrômica é uma condição ocular genética e rara. Ela é um problema de desenvolvimento do olho, mas não faz parte de uma síndrome maior (ou seja, não está ligada a outros problemas de saúde gerais). Ela pode se manifestar de muitas formas diferentes, tanto clinicamente quanto geneticamente. Geralmente, ela se apresenta como cataratas que afetam os dois olhos de maneira igual, não progridem (não pioram com o tempo) e aparecem ao nascimento ou na primeira infância. Outros problemas nos olhos podem ocorrer junto, como por exemplo, alterações no desenvolvimento da parte da frente do olho, colobomas, nistagmo (movimento involuntário dos olhos), córnea pequena, olho pequeno e miopia. No entanto, outros órgãos ou sistemas do corpo geralmente não são afetados.

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Introdução

O que você precisa saber de cara

📋

A catarata de início precoce e não sindrômica é uma condição ocular genética e rara. Ela é um problema de desenvolvimento do olho, mas não faz parte de uma síndrome maior (ou seja, não está ligada a outros problemas de saúde gerais). Ela pode se manifestar de muitas formas diferentes, tanto clinicamente quanto geneticamente. Geralmente, ela se apresenta como cataratas que afetam os dois olhos de maneira igual, não progridem (não pioram com o tempo) e aparecem ao nascimento ou na primeira infância. Outros problemas nos olhos podem ocorrer junto, como por exemplo, alterações no desenvolvimento da parte da frente do olho, colobomas, nistagmo (movimento involuntário dos olhos), córnea pequena, olho pequeno e miopia. No entanto, outros órgãos ou sistemas do corpo geralmente não são afetados.

🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q12.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
32 sintomas
🧠
Neurológico
3 sintomas
❤️
Coração
2 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

Catarata zonular
Herança autossômica recessiva
Catarata de sutura em Y posterior
Arritmia
Perda visual
Catarata sutural
46sintomas
Sem dados (46)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.

Catarata zonularZonular cataract
Herança autossômica recessivaAutosomal recessive inheritance
Catarata de sutura em Y posteriorPosterior Y-sutural cataract
ArritmiaArrhythmia
Perda visualVisual loss

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa3desde 2023
Últimos 10 anos3publicações
Pico20191 papers
Linha do tempo
2023Hoje · 2026🧪 2010Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

34 genes identificados com associação a esta condição.

Autosomal dominantAutosomal recessiveX-linked recessive
HSF4Heat shock factor protein 4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Heat-shock transcription factor that specifically binds heat shock promoter elements (HSE) (PubMed:22587838, PubMed:23507146). Required for denucleation and organelle rupture and degradation that occur during eye lens terminal differentiation, when fiber cells that compose the lens degrade all membrane-bound organelles in order to provide lens with transparency to allow the passage of light (By similarity). In this process, may regulate denucleation of lens fiber cells in part by activating DNAS

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Cataract 5, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
150.5 TPM
Cérebro - Hemisfério cerebelar
137.8 TPM
Pituitária
136.0 TPM
Próstata
108.1 TPM
Fallopian Tube
103.8 TPM
OUTRAS DOENÇAS (3)
cataract 5 multiple typesearly-onset lamellar cataracttotal early-onset cataract
HGNC:5227UniProt:Q9ULV5
GCNT2N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Branching enzyme that converts linear into branched poly-N-acetyllactosaminoglycans. Introduces the blood group I antigen during embryonic development. It is closely associated with the development and maturation of erythroid cells Determines the expression of the blood group I antigen in erythrocytes

LOCALIZAÇÃO

Golgi apparatus membrane

MECANISMO DE DOENÇA

Cataract 13, with adult i phenotype

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.

EXPRESSÃO TECIDUAL(Ubíquo)
Próstata
9.8 TPM
Estômago
7.9 TPM
Glândula salivar
6.0 TPM
Pulmão
6.0 TPM
Aorta
5.4 TPM
OUTRAS DOENÇAS (3)
obsolete blood group, 1 systemcataract 13 with adult I phenotypetotal early-onset cataract
HGNC:4204UniProt:Q8N0V5
BFSP2PhakininCandidate gene tested inTolerante
FUNÇÃO

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity)

LOCALIZAÇÃO

Cell membraneCytoplasmCytoplasm, cytoskeletonCytoplasm, cell cortex

MECANISMO DE DOENÇA

Cataract 12, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.

OUTRAS DOENÇAS (4)
cataract 12 multiple typesearly-onset lamellar cataractpulverulent cataractearly-onset sutural cataract
HGNC:1041UniProt:Q13515
CRYBA2Beta-crystallin A2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 42

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pituitária
16.8 TPM
Testículo
6.0 TPM
Pâncreas
5.4 TPM
Intestino delgado
1.7 TPM
Estômago
1.6 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (3)
cataract 42early-onset anterior polar cataractearly-onset nuclear cataract
HGNC:2395UniProt:P53672
VIMVimentinDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Vimentins are class-III intermediate filaments found in various non-epithelial cells, especially mesenchymal cells. Vimentin is attached to the nucleus, endoplasmic reticulum, and mitochondria, either laterally or terminally. Plays a role in cell directional movement, orientation, cell sheet organization and Golgi complex polarization at the cell migration front (By similarity). Protects SCRIB from proteasomal degradation and facilitates its localization to intermediate filaments in a cell conta

LOCALIZAÇÃO

CytoplasmCytoplasm, cytoskeletonNucleus matrixCell membraneCell projection, axon

VIAS BIOLÓGICAS (6)
Caspase-mediated cleavage of cytoskeletal proteinsDevelopmental Lineage of Mammary Gland Myoepithelial CellsDengue Virus-Host InteractionsInterleukin-4 and Interleukin-13 signalingStriated Muscle Contraction
MECANISMO DE DOENÇA

Cataract 30, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
3090.7 TPM
Artéria tibial
2998.2 TPM
Nervo tibial
2993.6 TPM
Fibroblastos
2829.0 TPM
Ovário
2292.7 TPM
OUTRAS DOENÇAS (3)
cataract 30epithelioid hemangiomapulverulent cataract
HGNC:12692UniProt:P08670
CRYABAlpha-crystallin B chainDisease-causing germline mutation(s) inTolerante
FUNÇÃO

May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preventing its degradation by the proteasome (By similarity)

LOCALIZAÇÃO

CytoplasmNucleusSecretedLysosome

VIAS BIOLÓGICAS (1)
HSF1-dependent transactivation
MECANISMO DE DOENÇA

Myopathy, myofibrillar, 2A, adult-onset

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2A is an autosomal dominant form characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, respiratory insufficiency, hypertrophic cardiomyopathy, and cataract.

EXPRESSÃO TECIDUAL(Ubíquo)
Coração - Ventrículo esquerdo
1863.3 TPM
Brain Spinal cord cervical c-1
1663.2 TPM
Coração - Átrio
1591.1 TPM
Músculo esquelético
1435.1 TPM
Nervo tibial
1093.8 TPM
OUTRAS DOENÇAS (8)
fatal infantile hypertonic myofibrillar myopathymyofibrillar myopathy 2dilated cardiomyopathy 1IIcataract 16 multiple types
HGNC:2389UniProt:P02511
CRYGBGamma-crystallin BDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 39, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
0.7 TPM
Brain Spinal cord cervical c-1
0.2 TPM
Substância negra
0.1 TPM
Hipotálamo
0.0 TPM
Hipocampo
0.0 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (4)
cataract 39 multiple typesearly-onset lamellar cataracttotal early-onset cataractearly-onset anterior polar cataract
HGNC:2409UniProt:P07316
AGKAcylglycerol kinase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex m

LOCALIZAÇÃO

Mitochondrion inner membraneMitochondrion intermembrane space

VIAS BIOLÓGICAS (1)
Glycerophospholipid biosynthesis
MECANISMO DE DOENÇA

Mitochondrial DNA depletion syndrome 10

An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy.

OUTRAS DOENÇAS (3)
cataract 38Sengers syndrometotal early-onset cataract
HGNC:21869UniProt:Q53H12
CRYBB2Beta-crystallin B2Candidate gene tested inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 3, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
3.7 TPM
Pituitária
2.0 TPM
Tireoide
1.9 TPM
Brain Nucleus accumbens basal ganglia
1.6 TPM
Hipocampo
1.3 TPM
OUTRAS DOENÇAS (8)
cataract 3 multiple typestotal early-onset cataractpulverulent cataractcerulean cataract
HGNC:2398UniProt:P43320
BFSP1FilensinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Involved in altering the calcium regulation of MIP water permeability (PubMed:30790544)

LOCALIZAÇÃO

Cell membraneCytoplasmCytoplasm, cytoskeletonCytoplasm, cell cortex

MECANISMO DE DOENÇA

Cataract 33, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.

OUTRAS DOENÇAS (2)
cataract 33early-onset nuclear cataract
HGNC:1040UniProt:Q12934
DNMBPDynamin-binding proteinCandidate gene tested inTolerante
FUNÇÃO

Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:17015620, PubMed:19767742). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficki

LOCALIZAÇÃO

CytoplasmGolgi apparatus, Golgi stackCytoplasm, cytoskeletonSynapseCell junction

VIAS BIOLÓGICAS (1)
CDC42 GTPase cycle
MECANISMO DE DOENÇA

Cataract 48

A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
33.6 TPM
Skin Not Sun Exposed Suprapubic
32.9 TPM
Bladder
26.3 TPM
Vagina
24.7 TPM
Cervix Ectocervix
23.4 TPM
INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (2)
cataract 48total early-onset cataract
HGNC:30373UniProt:Q6XZF7
PITX3Pituitary homeobox 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Anterior segment dysgenesis 1

A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.

EXPRESSÃO TECIDUAL(Tecido-específico)
Músculo esquelético
9.3 TPM
Testículo
2.4 TPM
Substância negra
1.8 TPM
Coração - Ventrículo esquerdo
0.7 TPM
Rim - Medula
0.3 TPM
OUTRAS DOENÇAS (4)
cataract 11 multiple typesanterior segment dysgenesis 1early-onset posterior polar cataractcataract-glaucoma syndrome
HGNC:9006UniProt:O75364
LIM2Lens fiber membrane intrinsic proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis

LOCALIZAÇÃO

Membrane

MECANISMO DE DOENÇA

Cataract, multiple types 19

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

EXPRESSÃO TECIDUAL(Não detectado)
Sangue
0.5 TPM
Testículo
0.3 TPM
Baço
0.2 TPM
Pulmão
0.1 TPM
Rim - Medula
0.0 TPM
OUTRAS DOENÇAS (2)
cataract 19 multiple typestotal early-onset cataract
HGNC:6610UniProt:P55344
CRYGSGamma-crystallin SDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 20, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
28.0 TPM
Cerebelo
26.0 TPM
Baço
16.4 TPM
Próstata
11.9 TPM
Tireoide
11.6 TPM
OUTRAS DOENÇAS (3)
cataract 20 multiple typesearly-onset lamellar cataractearly-onset sutural cataract
HGNC:2417UniProt:P22914
CHMP4BCharged multivesicular body protein 4bDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The M

LOCALIZAÇÃO

Cytoplasm, cytosolLate endosome membraneMidbodyNucleus envelope

VIAS BIOLÓGICAS (1)
Late endosomal microautophagy
MECANISMO DE DOENÇA

Cataract 31, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts.

OUTRAS DOENÇAS (3)
cataract 31 multiple typesearly-onset posterior subcapsular cataractearly-onset posterior polar cataract
HGNC:16171UniProt:Q9H444
NHSActin remodeling regulator NHSDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development

LOCALIZAÇÃO

Apical cell membraneCell projection, lamellipodiumCell junction, tight junctionCell junction, focal adhesionCytoplasm

VIAS BIOLÓGICAS (3)
RAC3 GTPase cycleRAC1 GTPase cycleRAC2 GTPase cycle
MECANISMO DE DOENÇA

Nance-Horan syndrome

Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, intellectual disability. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
13.7 TPM
Cervix Endocervix
13.1 TPM
Nervo tibial
12.9 TPM
Cervix Ectocervix
12.8 TPM
Artéria tibial
9.7 TPM
INTERAÇÕES PROTEICAS (4)
OUTRAS DOENÇAS (4)
cataract 40Nance-Horan syndromeearly-onset nuclear cataracttotal early-onset cataract
HGNC:7820UniProt:Q6T4R5
CRYAAAlpha-crystallin A chainCandidate gene tested inModerado
FUNÇÃO

Contributes to the transparency and refractive index of the lens (PubMed:18302245). In its oxidized form (absence of intramolecular disulfide bond), acts as a chaperone, preventing aggregation of various proteins under a wide range of stress conditions (PubMed:18199971, PubMed:19595763, PubMed:22120592, PubMed:31792453). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373)

LOCALIZAÇÃO

CytoplasmNucleus

EXPRESSÃO TECIDUAL(Baixa expressão)
Rim - Medula
3.3 TPM
Rim - Córtex
0.2 TPM
Fígado
0.0 TPM
OUTRAS DOENÇAS (6)
cataract 9 multiple typesearly-onset nuclear cataractearly-onset lamellar cataracttotal early-onset cataract
HGNC:2388UniProt:P02489
CRYBB1Beta-crystallin B1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 17, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.

EXPRESSÃO TECIDUAL(Baixa expressão)
Baço
2.4 TPM
Brain Frontal Cortex BA9
2.0 TPM
Córtex cerebral
1.7 TPM
Adipose Visceral Omentum
1.6 TPM
Tecido adiposo
1.3 TPM
OUTRAS DOENÇAS (4)
cataract 17 multiple typesearly-onset nuclear cataractpulverulent cataractcataract - microcornea syndrome
HGNC:2397UniProt:P53674
SIPA1L3Signal-induced proliferation-associated 1-like protein 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Plays a critical role in epithelial cell morphogenesis, polarity, adhesion and cytoskeletal organization in the lens (PubMed:26231217)

LOCALIZAÇÃO

Apical cell membrane

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
24.7 TPM
Tireoide
21.2 TPM
Intestino delgado
16.6 TPM
Skin Sun Exposed Lower leg
15.8 TPM
Skin Not Sun Exposed Suprapubic
15.4 TPM
INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (2)
cataract 45total early-onset cataract
HGNC:23801UniProt:O60292
PGRMC1Membrane-associated progesterone receptor component 1Candidate gene tested inDesconhecido
FUNÇÃO

Component of a progesterone-binding protein complex (PubMed:28396637). Binds progesterone (PubMed:25675345). Has many reported cellular functions (heme homeostasis, interaction with CYPs). Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). Intracellular heme chaperone. Regulates heme synthesis via interactions with FECH and acts as a heme donor for at least some hemoproteins (PubMed:27599036). Forms a ternary complex with TMEM97 rec

LOCALIZAÇÃO

Microsome membraneSmooth endoplasmic reticulum membraneMitochondrion outer membraneSecreted

VIAS BIOLÓGICAS (1)
Neutrophil degranulation
VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fallopian Tube
240.5 TPM
Glândula adrenal
235.2 TPM
Aorta
234.9 TPM
Brain Spinal cord cervical c-1
228.8 TPM
Fibroblastos
220.7 TPM
OUTRAS DOENÇAS (1)
total early-onset cataract
HGNC:16090UniProt:O00264
WFS1WolframinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism (PubMed:23035048)

LOCALIZAÇÃO

Endoplasmic reticulum membraneCytoplasmic vesicle, secretory vesicle

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Wolfram syndrome 1

A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
209.9 TPM
Útero
191.1 TPM
Aorta
160.6 TPM
Fallopian Tube
157.4 TPM
Artéria tibial
151.6 TPM
OUTRAS DOENÇAS (8)
Wolfram syndrome 1Wolfram-like syndromeautosomal dominant nonsyndromic hearing loss 6cataract 41
HGNC:12762UniProt:O76024
GJA3Gap junction alpha-3 proteinDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:30044662)

LOCALIZAÇÃO

Cell membraneCell junction, gap junction

VIAS BIOLÓGICAS (1)
Gap junction assembly
MECANISMO DE DOENÇA

Cataract 14, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Baixa expressão)
Coração - Ventrículo esquerdo
4.1 TPM
Coração - Átrio
2.4 TPM
Artéria coronária
2.3 TPM
Testículo
2.1 TPM
Linfócitos
1.0 TPM
OUTRAS DOENÇAS (4)
cataract 14 multiple typesearly-onset nuclear cataractearly-onset posterior polar cataractpulverulent cataract
HGNC:4277UniProt:Q9Y6H8
UNC45BProtein unc-45 homolog BDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development

LOCALIZAÇÃO

Cytoplasm, myofibril, sarcomere, Z lineCytoplasm, myofibril, sarcomere, A bandCytoplasm, perinuclear regionCytoplasm, cytosol

MECANISMO DE DOENÇA

Cataract 43

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

EXPRESSÃO TECIDUAL(Tecido-específico)
Músculo esquelético
83.7 TPM
Coração - Ventrículo esquerdo
50.8 TPM
Coração - Átrio
46.9 TPM
Artéria coronária
9.3 TPM
Testículo
2.2 TPM
OUTRAS DOENÇAS (4)
myofibrillar myopathy 11cataract 43early-onset nuclear cataractearly-onset posterior subcapsular cataract
HGNC:14304UniProt:Q8IWX7
GJA8Gap junction alpha-8 proteinCandidate gene tested inTolerante
FUNÇÃO

Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (PubMed:18006672, PubMed:19756179)

LOCALIZAÇÃO

Cell membraneCell junction, gap junction

VIAS BIOLÓGICAS (1)
Gap junction assembly
MECANISMO DE DOENÇA

Cataract 1, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Tecido-específico)
Testículo
12.9 TPM
Rim - Córtex
0.0 TPM
Rim - Medula
0.0 TPM
OUTRAS DOENÇAS (7)
cataract 1 multiple typescataract - microcornea syndromepulverulent cataractsclerocornea
HGNC:4281UniProt:P48165
LEMD2LEM domain-containing protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubMed:32494070). Plays a role as transmembrane adapter for the endosomal sorting complexes required for transport (ESCRT), and is thereby involved in ESCRT-mediated NE reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated NE closure by recr

LOCALIZAÇÃO

Nucleus inner membraneNucleus envelopeCytoplasm, cytoskeleton, spindle

VIAS BIOLÓGICAS (4)
Sealing of the nuclear envelope (NE) by ESCRT-IIIInitiation of Nuclear Envelope (NE) ReformationNuclear Envelope BreakdownDepolymerization of the Nuclear Lamina
MECANISMO DE DOENÇA

Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy

A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
71.2 TPM
Cérebro - Hemisfério cerebelar
70.2 TPM
Cervix Endocervix
64.7 TPM
Útero
61.0 TPM
Fallopian Tube
60.9 TPM
OUTRAS DOENÇAS (4)
Marbach-Rustad progeroid syndromecataract 46 juvenile-onsetearly-onset posterior subcapsular cataracttotal early-onset cataract
HGNC:21244UniProt:Q8NC56
CRYGDGamma-crystallin DCandidate gene tested inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 4, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract.

EXPRESSÃO TECIDUAL(Tecido-específico)
Ovário
8.4 TPM
Hipotálamo
3.0 TPM
Testículo
2.5 TPM
Brain Frontal Cortex BA9
1.6 TPM
Cérebro - Amígdala
1.6 TPM
OUTRAS DOENÇAS (7)
cataract 4 multiple typescataract - microcornea syndromeearly-onset nuclear cataractcerulean cataract
HGNC:2411UniProt:P07320
MAFTranscription factor MafDisease-causing germline mutation(s) inModerado
FUNÇÃO

Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promote

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
RUNX2 regulates osteoblast differentiation
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
81.0 TPM
Skin Sun Exposed Lower leg
79.4 TPM
Nervo tibial
76.4 TPM
Cervix Endocervix
74.9 TPM
Skin Not Sun Exposed Suprapubic
71.0 TPM
OUTRAS DOENÇAS (6)
Ayme-Gripp syndromecataract 21 multiple typescerulean cataractpulverulent cataract
HGNC:6776UniProt:O75444
CRYGCGamma-crystallin CCandidate gene tested inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 2, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
3.7 TPM
OUTRAS DOENÇAS (5)
cataract 2, multiple typescataract - microcornea syndromeearly-onset nuclear cataractpulverulent cataract
HGNC:2410UniProt:P07315
EPHA2Ephrin type-A receptor 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation

LOCALIZAÇÃO

Cell membraneCell projection, ruffle membraneCell projection, lamellipodium membraneCell junction, focal adhesion

VIAS BIOLÓGICAS (10)
EPH-ephrin mediated repulsion of cellsEPH-Ephrin signalingRND1 GTPase cycleRHOU GTPase cycleRAC3 GTPase cycle
MECANISMO DE DOENÇA

Cataract 6, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
197.6 TPM
Vagina
101.4 TPM
Skin Not Sun Exposed Suprapubic
61.9 TPM
Skin Sun Exposed Lower leg
57.3 TPM
Nervo tibial
41.7 TPM
OUTRAS DOENÇAS (5)
cataract 6 multiple typestotal early-onset cataractearly-onset posterior polar cataractearly-onset nuclear cataract
HGNC:3386UniProt:P29317
CRYBA1Beta-crystallin A3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 10, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

EXPRESSÃO TECIDUAL(Não detectado)
Testículo
0.3 TPM
Cérebro - Hemisfério cerebelar
0.2 TPM
Baço
0.2 TPM
Pulmão
0.2 TPM
Aorta
0.2 TPM
OUTRAS DOENÇAS (5)
cataract 10 multiple typesearly-onset lamellar cataractearly-onset nuclear cataractearly-onset posterior polar cataract
HGNC:2394UniProt:P05813
MIPLens fiber major intrinsic proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Aquaporins form homotetrameric transmembrane channels, with each monomer independently mediating water transport across the plasma membrane along its osmotic gradient (PubMed:11001937, PubMed:24120416). Specifically expressed in lens fiber cells, this aquaporin is crucial for maintaining lens water homeostasis and transparency. Beyond water permeability, it also acts as a cell-to-cell adhesion molecule, forming thin junctions between lens fiber cells that are essential for maintaining the ordere

LOCALIZAÇÃO

Cell membraneCell junction

VIAS BIOLÓGICAS (1)
Passive transport by Aquaporins
MECANISMO DE DOENÇA

Cataract 15, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.1 TPM
Fígado
0.5 TPM
Hipotálamo
0.2 TPM
Brain Spinal cord cervical c-1
0.2 TPM
Brain Frontal Cortex BA9
0.2 TPM
OUTRAS DOENÇAS (7)
cataract 15 multiple typesearly-onset lamellar cataractearly-onset nuclear cataractcerulean cataract
HGNC:7103UniProt:P30301
CRYBA4Beta-crystallin A4Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

VIAS BIOLÓGICAS (4)
Attenuation phaseRegulation of HSF1-mediated heat shock responseHSF1-dependent transactivationHSF1 activation
MECANISMO DE DOENÇA

Cataract 23, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
3.8 TPM
Baço
0.6 TPM
Brain Frontal Cortex BA9
0.3 TPM
Linfócitos
0.2 TPM
Brain Anterior cingulate cortex BA24
0.2 TPM
OUTRAS DOENÇAS (3)
cataract 23cataract - microcornea syndromeearly-onset lamellar cataract
HGNC:2396UniProt:P53673
LSSLanosterol synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730). Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341)

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (2)
Lanosterol biosynthesisActivation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

Cataract 44

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
93.6 TPM
Pituitária
81.3 TPM
Ovário
81.1 TPM
Cerebelo
72.7 TPM
Cervix Ectocervix
70.7 TPM
OUTRAS DOENÇAS (7)
hypotrichosis 14alopecia-intellectual disability syndrome 4cataract 44autosomal recessive palmoplantar keratoderma and congenital alopecia
HGNC:6708UniProt:P48449
CRYBB3Beta-crystallin B3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Crystallins are the dominant structural components of the vertebrate eye lens

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Cataract 22, multiple types

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders.

EXPRESSÃO TECIDUAL(Baixa expressão)
Tireoide
3.0 TPM
Próstata
1.9 TPM
Fígado
1.3 TPM
Vagina
1.2 TPM
Rim - Córtex
1.2 TPM
OUTRAS DOENÇAS (3)
cataract 22 multiple typesearly-onset anterior polar cataractearly-onset nuclear cataract
HGNC:2400UniProt:P26998

Medicamentos aprovados (FDA)

1 medicamento encontrado nos registros da FDA americana.

💊 Vancomycin Hydrochloride (VANCOMYCIN HYDROCHLORIDE)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

138 variantes patogênicas registradas no ClinVar.

🧬 HSF4: NM_001374675.1(HSF4):c.897del (p.Asp302fs) ()
🧬 HSF4: NM_001374675.1(HSF4):c.53C>T (p.Pro18Leu) ()
🧬 HSF4: GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3 ()
🧬 HSF4: NM_001374675.1(HSF4):c.117_123+3del ()
🧬 HSF4: NM_001374675.1(HSF4):c.536dup (p.Gln180fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 7 variantes classificadas pelo ClinVar.

5
2
Patogênica (71.4%)
VUS (28.6%)
VARIANTES MAIS SIGNIFICATIVAS
MAP4K4: NM_001395002.1(MAP4K4):c.298C>T (p.Gln100Ter) [Likely pathogenic]
CRYBA4: NM_001886.3(CRYBA4):c.220T>C (p.Tyr74His) [Pathogenic]
CRYBA4: NM_001887.4(CRYBB1):c.576-637_587del [Pathogenic]
DYM: NM_001353214.3(DYM):c.916C>T (p.Gln306Ter) [Pathogenic/Likely pathogenic]
WFS1: NM_006005.3(WFS1):c.1243_1245del (p.Val415del) [Pathogenic]

Vias biológicas (Reactome)

48 vias biológicas associadas aos genes desta condição.

Cellular response to heat stress Caspase-mediated cleavage of cytoskeletal proteins Striated Muscle Contraction Interleukin-4 and Interleukin-13 signaling RHOBTB1 GTPase cycle Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Dengue Virus-Host Interactions Dengue Virus Genome Translation and Replication Developmental Lineage of Mammary Gland Myoepithelial Cells HSF1-dependent transactivation Glycerophospholipid biosynthesis Signaling by BRAF and RAF1 fusions CDC42 GTPase cycle Budding and maturation of HIV virion Macroautophagy Pyroptosis Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events Sealing of the nuclear envelope (NE) by ESCRT-III Translation of Replicase and Assembly of the Replication Transcription Complex Translation of Replicase and Assembly of the Replication Transcription Complex RAC1 GTPase cycle RAC2 GTPase cycle RAC3 GTPase cycle Neutrophil degranulation XBP1(S) activates chaperone genes Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation Gap junction assembly Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Depolymerization of the Nuclear Lamina RUNX2 regulates osteoblast differentiation EPH-Ephrin signaling EPHA-mediated growth cone collapse EPH-ephrin mediated repulsion of cells RHOG GTPase cycle RHOU GTPase cycle RHOV GTPase cycle RND3 GTPase cycle RND2 GTPase cycle RND1 GTPase cycle Passive transport by Aquaporins CRYBA4 gene Activation of gene expression by SREBF (SREBP) Lanosterol biosynthesis

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Publicações mais relevantes

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#1

Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant.

Journal of clinical medicine2023 Dec 07

Recessive Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) mutations can cause early onset muscle-eye-brain disease but have also more recently been associated with non-syndromic Retinitis Pigmentosa. In this case series, we describe three sisters affected by non-syndromic autosomal recessive POMGNT1 retinopathy with a report of a new variant. The three patients received care at West Virginia University Eye Institute, including full ophthalmic examination with additional fundus imaging, optical coherence tomography (OCT), electroretinogram (ERG), and visual field testing. Diagnostic panel testing of 330 genes was also obtained. The proband was seen for cataract evaluation at age 42, and her fundus examination was suggestive of retinitis pigmentosa. Her oldest sister had been treated for acute anterior uveitis with retinal vasculitis. Another sister was diagnosed with multiple sclerosis (MS) and peripheral retinal degeneration. Posterior subcapsular cataracts were diagnosed between age 42 and 55 in all three sisters, each with constricted fields with preserved central vision. We identified one pathogenic POMGNT1 variant (c.751 + 1G > A) and one likely pathogenic variant (c.1010T > C p.Ile337Thr) in all three sisters. A thorough family history and examination of the siblings with genotyping might have led to an earlier diagnosis of retinal inherited disease and avoidance of immunomodulatory treatment in the oldest sibling.

#2

A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.

European journal of ophthalmology2021 Sep

This study aimed to examine pathogenic mutation within one Chinese family of five-generations suffering from autosomal dominant cataract. Next-generation sequencing and Sanger sequencing were used to find the pathogenic variants. A rare mutation, c.563G > A, in CRYBB2 gene was found in the proband that showed symptom of non-syndromic congenital autosomal dominant cataract. This mutation had been found in all affected individuals and in one healthy infant, but it did not exist between two individuals who did not develop such disease in that family, as well as in 100 healthy subjects who showed no relation with that family. Cataracts in this family varied with different severity of lens opacities and elongation of axial length. One missense mutation c.563G > A is reported in the CRYBB2 gene among one Chinese family suffering from early-onset cataract, and associated novel phenotypes are the elongation of axial length and the types of cataract. Our results expand the spectrum of associated phenotypes of CRYBB2 mutation.

#3

Dominant ARL3-related retinitis pigmentosa.

Ophthalmic genetics2019 Apr

To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys). Clinical examination included optical coherence tomography, electroretinography, and ultra-wide field retinal imaging with autofluorescence. Retrospective data were collected from the registry of inherited retinal diseases at Oslo university hospital. DNA was analysed by whole-exome sequencing and Sanger sequencing. The ARL3 missense variant was visualized in a 3D-protein structure. The phenotype was non-syndromic retinitis pigmentosa with cataract associated with early onset of decreased central vision and central retinal thinning. Sanger sequencing confirmed the presence of a de novo ARL3 missense variant p.(Tyr90Cys) in the index patient and his affected son. We did not find any other cases with rare ARL3 variants in a cohort of 431 patients with retinitis pigmentosa-like disease. By visualizing Tyr90 in the 3D protein structure, it seems to play an important role in packing of the α/β structure of ADP-ribosylation factor-like 3 (ARL3). When changing Tyr90 to cysteine, we observe a loss of interactions in the core of the α/β structure that is likely to affect folding and stability of ARL3. Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa.

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Case Series on Autosomal Recessive Non-Syndromic Retinitis Pigmentosa Caused by POMGNT1 Mutations with a Report of a New Variant.
    Journal of clinical medicine· 2023· PMID 38137617mais citado
  2. A novel CRYBB2 mutation causes autosomal dominant cataract: A report from a Chinese family.
    European journal of ophthalmology· 2021· PMID 32498547mais citado
  3. Dominant ARL3-related retinitis pigmentosa.
    Ophthalmic genetics· 2019· PMID 30932721mais citado
  4. Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.
    Ophthalmic Genet· 2015· PMID 25469533recente
  5. Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
    Clin Genet· 2014· PMID 24172257recente
  6. Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.
    Eye (Lond)· 2000· PMID 11584843recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:91492(Orphanet)
  2. OMIM OMIM:601371(OMIM)
  3. MONDO:0011060(MONDO)
  4. GARD:16801(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18387306(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

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Catarata não-sindrômica de início precoce

ORPHA:91492 · MONDO:0011060
CID-10
Q12.0 · Catarata congênita
CID-11
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MedGen
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