Uma síndrome caracterizada pela associação de acondroplasia grave com atraso no desenvolvimento e acantose nigricans. Ela foi descrita em quatro pessoas sem parentesco. Anomalias estruturais do sistema nervoso central, convulsões e perda auditiva também foram relatadas, juntamente com o encurvamento da clavícula, fêmur, tíbia e fíbula em alguns casos. A síndrome é causada por uma substituição Lys650Met na região quinase do receptor 3 do fator de crescimento de fibroblastos (codificado pelo gene FGFR3; 4p16.3).
Introdução
O que você precisa saber de cara
Uma síndrome caracterizada pela associação de acondroplasia grave com atraso no desenvolvimento e acantose nigricans. Ela foi descrita em quatro pessoas sem parentesco. Anomalias estruturais do sistema nervoso central, convulsões e perda auditiva também foram relatadas, juntamente com o encurvamento da clavícula, fêmur, tíbia e fíbula em alguns casos. A síndrome é causada por uma substituição Lys650Met na região quinase do receptor 3 do fator de crescimento de fibroblastos (codificado pelo gene FGFR3; 4p16.3).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 23 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 58 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat
Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Variantes genéticas (ClinVar)
416 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 35 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
16 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de acondroplasia grave-perturbação do desenvolvimento-acantose nigricans
Centros de Referência SUS
37 centros habilitados pelo SUS para Síndrome de acondroplasia grave-perturbação do desenvolvimento-acantose nigricans
Centros para Síndrome de acondroplasia grave-perturbação do desenvolvimento-acantose nigricans
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
The present review aims to ascertain whether reproductive disorders are associated with specific physical, mental, personality, and social traits. This information may be used to support or reject the hypothesis on the origin of infecundity, which proposes that women/men with preferred characteristics, including high resource holding potential, genetic quality, and/or reproductive potential have advantage over women/men displaying less preferred traits in selecting partners with preferred traits. A literature search of the reported associations of endometriosis, polycystic ovary syndrome, diminished ovarian reserve in women < 35 years, and low semen quality with specific physical, mental, personality, and social characteristics was carried out using the PubMed database. Endometriosis is associated with lower body mass index and waist-to-hip ratio, greater breast-to-underbreast ratio, severe teenage acne, red hair, fair skin, nevi and freckles, light eyes, and high sensitivity to sun exposure. Polycystic ovary syndrome is linked to central adiposity, waist-to-hip ratio > 0.80, acne vulgaris, acanthosis nigricans, and hirsutism in both obese and lean women, and lower cognitive performance on memory, executive function, attention, information processing speed, and visuospatial skills. Diminished ovarian reserve in women < 35 years is associated with shorter cycle length and menstrual bleeding length, either shorter or longer than 4-6 days. Sperm quality is negatively correlated with body mass index, waist circumference, weight gain since age 17 years, extraversion, and psychoticism, but positively correlated with general intelligence. The four reproductive disorders analyzed are significantly associated with high levels of anxiety, stress, and/or depression, as well as economic burden (endometriosis) or lower socioeconomic status (polycystic ovary syndrome, diminished ovarian reserve, and low semen quality). This study discloses specific physical, mental, personality, and social traits associated with four reproductive disorders. More efforts are warranted to evaluate traits associated with reproductive disorders using a multiethnic and multicultural viewpoint.
De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.
Acanthosis nigricans (AN) is commonly associated with impaired glucose tolerance, but early, severe presentation in individuals with normoglycemia may identify individuals at risk for systemic disease. While gain of function epidermal growth factor receptor (EGFR) pathogenic variants are associated with pulmonary cancers, their role in syndromic skin disease has not been clearly defined. This study identified activating EGFR variants that were associated with a syndrome characterized by generalized acquired keratoderma accentuated at flexural sites, woolly hair, palmoplantar keratoderma, and pulmonary disease with lung nodules, and the results suggest EGFR inhibitor therapeutic efficacy. To determine the genetic basis of early-onset, syndromic AN and assess response to pathogenesis-directed therapy. Patients included 2 individuals with normoglycemia with early-onset periorificial hyperpigmentation and flexural skin thickening that subsequently generalized and 1 individual with an original diagnosis of widespread epidermal nevus. Participants underwent whole-exome sequencing and studies of affected skin and keratinocytes. EGFR variant identification and assessment of pathway activation in lesional skin and keratinocytes, pulmonary function testing, lung imaging, and clinical response to EGFR inhibition. All 3 participants (aged 8, 18, and 17 years; 2 male individuals and 1 female individual) had an EGFR L858R variant, which arose as either de novo in generalized cases or a somatic variant in mosaic disease. Lesional skin and cultured keratinocytes demonstrated increased EGFR pathway activity, which was suppressed by pharmacologic inhibition in vitro. Systemic treatment with EGFR inhibitors was associated with skin disease regression, improvement in pulmonary disease, and resolution or reduction of the number of pulmonary nodules. The findings of this case series study define a syndromic disorder with increased risk of pulmonary disease and lung nodules in patients with acquired, generalized AN that is associated with activating EGFR variants. Pulmonary nodules are precursor lesions for lung cancer, and treatment with EGFR inhibitions is associated with near-complete resolution of skin and pulmonary disease. Early recognition of syndromic EGFR AN will permit identification of individuals at risk for systemic disease who are candidates for EGFR-targeted therapy.
Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.
Rabson-Mendenhall syndrome (RMS) is an extremely rare monogenic form of diabetes caused by mutations in the insulin receptor (INSR) gene, with only about 50 cases reported worldwide to date. Here, we report a case of RMS caused by a previously unreported c.1123+2 T>C splice mutation. The patient was diagnosed with acanthosis nigricans and hypertrichosis at birth, and the growth rate was slower than that of normal children. At age 5, the patient had severe hyperinsulinemia, congenital heart abnormalities, and pineal cysts. At age 13, he was diagnosed with diabetes and exhibited symptoms of hyperinsulinemia, low body weight, growth retardation, acanthosis nigricans, dental anomalies, an oversized penis, and a pineal cyst. Sequencing results indicated an INSR c.1123+2 T>C mutation, and bioinformatic analysis suggested that this mutation led to splicing abnormalities, thereby affecting INSR function. Both parents carried the mutated gene, whereas his brother had a normal genotype. Genetic diagnosis is vital in RMS; c.1123+2 T>C mutation of INSR causes pancreatic decline; current treatments show limited effectiveness.
Insulin Resistance, Metabolic Syndrome, and Inflammatory Skin Disease.
Background/Objectives: The skin is an important indicator of overall health, and its relationship with insulin resistance (IR) and metabolic syndrome (MetS) has garnered increasing attention. This review explores the connection between glucose dysregulation and various dermatological conditions, aiming to highlight integrative approaches for management. Methods: A comprehensive literature search was conducted in June and July 2024 across PubMed, Google Scholar, and Embase. Peer-reviewed studies on glucose dysregulation in dermatology were identified using terms such as "insulin," "metabolic syndrome," and "dermatological manifestations." Relevant studies were selected based on their contributions to understanding these relationships. Results: The review identified significant associations between glucose dysregulation, MetS, and conditions such as psoriasis, acne, acanthosis nigricans, seborrheic dermatitis, and hidradenitis suppurativa. Key findings indicated that elevated insulin levels and inflammatory markers correlate with the severity of these skin disorders. Notably, dietary interventions and probiotics show potential in modulating inflammation and improving metabolic health. Conclusions: There is a clear link between glucose dysregulation and several dermatological conditions, underscoring the importance of a holistic treatment approach. By addressing glucose control and incorporating lifestyle modifications, clinicians can improve patient outcomes and mitigate the complications associated with IR and MetS. Further research is essential to refine these integrative strategies and assess their effectiveness in clinical practice.
A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.
Type A insulin resistance syndrome (TAIRS) is a rare autosomal dominant disorder associated with variants in the Insulin Receptor (INSR) gene. It is characterized by insulin resistance, hyperandrogenism, and acanthosis nigricans. The severity of the condition may be influenced by homozygosity or heterozygosity, with some female patients being misdiagnosed with polycystic ovary syndrome (PCOS). A 13-year-old female proband from a family was identified with hyperinsulinemia, hyperandrogenism, acanthosis nigricans, hirsutism, acne, oligomenorrhea, and masculinization. Exome sequencing and Sanger sequencing confirmed that the proband was a carrier of the INSR (NM_000208.2): c.3734 T > A(p.V1245E) variant. This variant is not listed in the Human Gene Mutation Database (HGMD) or ClinVar. The novel variant was predicted to be deleterious by the bioinformatic tools SIFT, MutationTaster, and Condel. According to the American College of Medical Genetics and Genomics (ACMG) criteria, it was evaluated as PM6, PM2_Supporting, and PP3, and classified as uncertain significance. The variant was not detected in the proband's parents or other family members, all of whom lacked the associated clinical phenotypes. The p.V1245E variant was found to be a de novo variant. SWISS-MODEL analysis suggested that the p.V1245E variant induces structural changes in the three-dimensional configuration of the INSR protein, potentially impairing its normal function. RT-qPCR revealed a significant reduction in INSR mRNA expression in the proband. In a 293 T cell model transfected with lentivirus carrying the p.V1245E variant, both Western blotting and RT-qPCR demonstrated decreased INSR mRNA and protein expression, while immunofluorescence showed reduced INSR protein levels with altered localization. Therefore, the ACMG evaluation (PS2, PS3, PM2_Supporting, PP3) was further upgraded to pathogenic. In conclusion, this de novo variant represents the pathogenic variant responsible for TAIRS in this family, expanding the variant spectrum of the INSR gene.
Publicações recentes
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Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report.
Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.
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📚 EuropePMCmostrando 122
Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
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World journal of diabetesClinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.
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Indian journal of dermatologyA New Mutation of the INSR Gene in a 13-Year-Old Girl with Severe Insulin Resistance Syndrome in China.
BioMed research internationalAn adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome.
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PloS oneUnusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion.
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Journal of pediatric endocrinology & metabolism : JPEMRabson-Mendenhall Syndrome in a brother-sister pair in Kuwait: Diagnosis and 5 year follow up.
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Endocrinology, diabetes & metabolism case reportsTwo Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.
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Oman medical journalLiraglutide administration improves hormonal/metabolic profile and reproductive features in women with HAIR-AN syndrome.
Endocrinology, diabetes & metabolism case reportsA novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome.
Journal of pediatric endocrinology & metabolism : JPEMArg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyType A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.
Journal of medical case reportsPostoperative expression of Cushing disease in a young male: metamorphosis of silent corticotroph adenoma?
Endocrinology, diabetes & metabolism case reportsFatty Liver and Autoimmune Hepatitis: Two Forms of Liver Involvement in Lipodystrophies.
GE Portuguese journal of gastroenterologyGnRH Agonist Improves Hyperandrogenism in an Adolescent Girl With an Insulin Receptor Gene Mutation.
Journal of the Endocrine SocietyMajewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.
BMJ case reportsEffectiveness and Safety of Metformin versus Canthex™ in Patients with Acanthosis Nigricans: A Randomized, Double-blind Controlled Trial.
Indian journal of dermatologyPosterior Distraction First or Fronto-Orbital Advancement First for Severe Syndromic Craniosynostosis.
The Journal of craniofacial surgerySíndrome metabólico y aterosclerosis carotídea subclínica en niños y adolescentes mexicanos con acantosis nigricans.
Gaceta medica de MexicoClinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Journal of diabetesA new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria.
Endocrine researchEvaluation of nonalcoholic fatty liver disease using magnetic resonance in obese children and adolescents.
Jornal de pediatriaAcanthosis nigricans and the metabolic syndrome.
Clinics in dermatologyImaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Radiographics : a review publication of the Radiological Society of North America, IncPrevalence of dermatologic manifestations and metabolic biomarkers in women with polycystic ovary syndrome in north China.
Journal of cosmetic dermatologyA Mutation in INSR in a Child Presenting with Severe Acanthosis Nigricans.
Journal of clinical research in pediatric endocrinologySevere, Malignant Acanthosis Nigricans Associated with Adenocarcinoma of the Endometrium in a Young Obese Female.
Case reports in dermatologyHormonal therapies for acne.
Clinics in dermatologyMolecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases.
Pediatric diabetesMild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
American journal of medical genetics. Part ADiagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.
Pediatric diabetesGlucagon-like peptide-1 analogues - an efficient therapeutic option for the severe insulin resistance of lipodystrophic syndromes: two case reports.
Journal of medical case reportsPalmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.
Pediatric dermatologyAchondroplasia: Development, pathogenesis, and therapy.
Developmental dynamics : an official publication of the American Association of AnatomistsSkin manifestations of Cushing's syndrome.
Reviews in endocrine & metabolic disordersRabson Mendenhall Syndrome caused by a novel missense mutation.
International journal of pediatric endocrinologyPediatric non-alcoholic fatty liver disease: Recent solutions, unresolved issues, and future research directions.
World journal of gastroenterologyLelis Syndrome: A Rare Cause of Acanthosis Nigricans.
Pediatric dermatologyParaneoplastic pemphigus as a presentation of acute myeloid leukemia: Early diagnosis and remission.
Hematology/oncology and stem cell therapyA Heterozygous ZMPSTE24 Mutation Associated with Severe Metabolic Syndrome, Ectopic Fat Accumulation, and Dilated Cardiomyopathy.
CellsPseudoacromegaly in congenital generalised lipodystrophy (Berardinelli-Seip syndrome).
BMJ case reportsFitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl.
BMC pediatrics[Acantosis nigricans in severe insulin resistance syndromes].
Anales de pediatria (Barcelona, Spain : 2003)First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
Molecular biology reportsCutaneous Findings and Systemic Associations in Women With Polycystic Ovary Syndrome.
JAMA dermatologyA novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.
European journal of medical geneticsThe prevalence of obstructive sleep apnea in symptomatic patients with syndromic craniosynostosis.
International journal of oral and maxillofacial surgeryFibroblast growth factor receptor signaling in kidney and lower urinary tract development.
Pediatric nephrology (Berlin, Germany)Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.
Diabetic medicine : a journal of the British Diabetic Association[Detection and treatment of respiratory disorders in obese children: Obstructive sleep apnea syndrome and obesity hypoventilation syndrome].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieHyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome.
Case reports in endocrinologyIdentification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.
Hormone research in paediatrics[Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia].
Terapevticheskii arkhivCostello syndrome with severe nodulocystic acne: unexpected significant improvement of acanthosis nigricans after oral isotretinoin treatment.
Case reports in pediatricsDonohue syndrome: a new case with a new complication.
Journal of pediatric endocrinology & metabolism : JPEM[Familial partial lipodystrophy type 1. A rare or underdiagnosed syndrome?].
MedicinaAssociações
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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.
- Associations Between Reproductive Disorders and Specific Physical, Mental, Personality, and Social Characteristics: A Narrative Review.
- De Novo Germline L858R EGFR Variants and Generalized Acanthosis Nigricans.
- Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.
- Insulin Resistance, Metabolic Syndrome, and Inflammatory Skin Disease.
- A de novo INSR variant in Type A insulin resistance syndrome: familial investigation and genetic implications.
- Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome.
- Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
- Arg1201Gln mutation of insulin receptor impairs tyrosine kinase activity and causes insulin resistance: a case report.
- Type A insulin resistance syndrome misdiagnosed as polycystic ovary syndrome: a case report.
- Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR) gene.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:85165(Orphanet)
- OMIM OMIM:616482(OMIM)
- MONDO:0014658(MONDO)
- GARD:9443(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q259765(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
