Raras
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Zigodactilia tipo 3
ORPHA:295191CID-10 · Q70.0CID-11 · LB79.YDOENÇA RARA

O pica-pau-bico-de-marfim ou pica-pau-de-bico-marfim é uma espécie de pica-pau possivelmente extinto, nativo dos pântanos norte-americanos e das florestas temperadas de coníferas do sul dos Estados Unidos e de Cuba. A destruição de seu habitat e a caça reduziram as populações de forma tão devastadora que a espécie está listada como Criticamente Ameaçada na Lista Vermelha da IUCN, e como "definitivamente ou provavelmente extinta" pela American Birding Association. O último avistamento universalmente aceito de um pica-pau-bico-de-marfim americano ocorreu na Luisiana em 1944, e o último avistamento universalmente aceito de um pica-pau-bico-de-marfim cubano ocorreu em 1987; relatos esporádicos de avistamentos e outras evidências da persistência da espécie continuaram desde então.

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Introdução

O que você precisa saber de cara

📋

Zigodactilia tipo 3 é uma anomalia congênita rara caracterizada pela fusão dos dedos dos pés, comumente os 2º e 3º, associada a alterações ósseas e cutâneas. A condição é causada por mutações no gene HOXD13.

Publicações científicas
22 artigos
Último publicado: 2019 Feb 18
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q70.0
🇧🇷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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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2desde 2024
Total histórico22PubMed
Últimos 10 anos19publicações
Pico20239 papers
Linha do tempo
2024Hoje · 2026📈 2023Ano de pico
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

1 gene identificado com associação a esta condição.

Autosomal dominant
HOXD13Homeobox protein Hox-D13Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:24789103). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity)

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Synpolydactyly 1

Limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cólon sigmoide
34.0 TPM
Vagina
31.9 TPM
Cervix Ectocervix
28.0 TPM
Próstata
19.3 TPM
Cervix Endocervix
10.6 TPM
OUTRAS DOENÇAS (8)
syndactyly type 5synpolydactyly type 1brachydactyly type E1brachydactyly-syndactyly syndrome
HGNC:5136UniProt:P35453

Variantes genéticas (ClinVar)

87 variantes patogênicas registradas no ClinVar.

🧬 HOXD13: GRCh37/hg19 2q31.1-32.2(chr2:171436894-189531954)x1 ()
🧬 HOXD13: NM_000523.4(HOXD13):c.502A>G (p.Met168Val) ()
🧬 HOXD13: NM_000523.4(HOXD13):c.468C>A (p.His156Gln) ()
🧬 HOXD13: NM_000523.4(HOXD13):c.461C>A (p.Ser154Ter) ()
🧬 HOXD13: NM_000523.4(HOXD13):c.979C>G (p.Arg327Gly) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Zigodactilia tipo 3

🗺️

Selecione um estado ou use sua localização para ver resultados.

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.

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Publicações mais relevantes

Timeline de publicações
8 papers (10 anos)
#1

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology2024

The 'Improved White Ponni' (IWP) rice variety, which is susceptible to lodging, leading to yield losses. Our primary goal is to develop new rice lines with non-lodging traits, enhancing stem strength and resistance to adverse conditions. Additionally, we aim to improve yield-contributing agronomic traits, benefiting farmers, food security, and the environment. Our work contributes to scientific knowledge and addresses a significant issue in Southern Indian rice cultivation. In the present study, early and semi-dwarf early mutants of IWP were developed without altering the native grain quality traits using gamma ray-mediated mutagenesis. The seeds (500) were irradiated with γ-rays after fixing the Lethal Dose 50 (LD50), and selection for semi-dwarfism and earliness was imposed on a large M2 population. The selected traits were confirmed by evaluating the M3 lines at morpho-physiological, biochemical, and molecular levels. The response of mutants to gibberellic acid has been studied, which identified responsive mutants as well as slow-responding mutant lines including IWP-11-2, IWP-48-2, IWP-50-11, and IWP-33-2. Agar plate assay indicated low α- amylase content in IWP-50-11, IWP-33-2, IWP-43-1, IWP-47-2, and IWP-18-1. The scanning electron microscopy demonstrated that the mutants displayed an increased cellular dimension in comparison to the wild type. In dwarf mutants, null alleles were observed for the SD1 gene-specific primers which depicts gene undergone mutation. Further sequencing revealed the presence of single nucleotide polymorphisms in the SD1 gene resulting in semi-dwarfism in the mutant IWP-D-1. The impact of a defective gibberellic acid-mediated signaling pathway in mutants to produce a novel high-yielding and early maturing semi-dwarf rice variety.

#2

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Journal of clinical lipidology2024

Familial hypobetalipoproteinemias (FHBL) are rare genetic diseases characterized by lipid malabsorption. We focused on abetalipoproteinemia (FHBL-SD1) and chylomicron retention disease (FHBL-SD3), caused by mutations in microsomal triglyceride transfer protein (MTTP) and SAR1B genes, respectively. Treatments include a low-fat diet and high-dose fat-soluble vitamin supplementations. However, patients are not supplemented in carotenoids, a group of lipid-soluble pigments essential for eye health. Our aim was to evaluate carotenoid absorption and status in the context of hypobetalipoproteinemia. We first used knock-out Caco-2/TC7 cell models of FHBL-SD1 and FHBL-SD3 to evaluate carotenoid absorption. We then characterized FHBL-SD1 and FHBL-SD3 patient status in the main dietary carotenoids and compared it to that of control subjects. In vitro results showed a significant decrease in basolateral secretion of α- and β-carotene, lutein, and zeaxanthin (-88.8 ± 2.2 % to -95.3 ± 5.8 %, -79.2 ± 4.4 % to -96.1 ± 2.6 %, -91.0 ± 4.5 % to -96.7 ± 0.3 % and -65.4 ± 3.6 % to -96.6 ± 1.9 %, respectively). Carotenoids plasma levels in patients confirmed significant deficiencies, with decreases ranging from -89 % for zeaxanthin to -98 % for α-carotene, compared to control subjects. Given the continuous loss in visual function despite fat-soluble vitamin treatment in some patients, carotenoid supplementation may be of clinical utility. Future studies should assess the correlation between carotenoid status and visual function in aging patients and investigate whether carotenoid supplementation could prevent their visual impairment.

#3

Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.

The Journal of asthma : official journal of the Association for the Care of Asthma2024 Apr

To evaluate referral rates and factors associated with referrals to a community agency for children evaluated for an asthma exacerbation at a pediatric emergency department (PED) and compare PED visits for asthma the following year between those referred and not referred. We reviewed electronic health records of children 2-18 years evaluated in our PED from 01/01/2019 to 12/31/2019 with an ICD-10 diagnostic code for asthma (J45x) following the introduction of a portal where clinicians could refer children to a community agency focused on improving health outcomes for asthma. We abstracted data on demographics, PED visits, and hospitalizations and used multivariate logistic regression to evaluate factors associated with referrals. Of the 2262 charts analyzed, the majority of patients were male (61%), Black (76%), and held public insurance (71%). Only a minority of patients (n = 140, 6%) were referred. Age [6-12 years (AOR: 1.93, 95% CI: 1.21-3.08, p = .006), 13-18 years (AOR: 10.61, 95% CI: 6.53-17.24, p = .001)] and lifetime number of PED asthma visits [≥3 visits (AOR: 1.91, 95% CI, 1.01-3.62, p = .05)] were associated with referral. There was no significant difference in the mean number of PED visits in one year [referred: 0.59 (SD1.2) vs. not referred: 0.79 (SD1.3), t = 1.70, p = .09] between the two groups. The referral rate to community agency from PED for asthma is low. There was no difference in short-term PED utilization for asthma between those referred and not referred.

#4

Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice.

PloS one2023

Probiotics provide health benefits in various aspects and are believed to modulate the immune system by balancing gut microbiota homeostasis, termed the "microbiota-immune axis". Recent evidence supports that several Lactobacillus strains possess glucose-lowering and anti-inflammatory effects in an animal model of type 1 diabetes (T1D). Although probiotics of Lacticaseibacillus paracasei SD1 (SD1) and Lacticaseibacillus rhamnosus SD11 (SD11) exert human oral health benefits by reducing harmful bacterial populations, their clinical application regarding hypoglycemic-related traits as well as the underlying mechanisms are still lacking. In this report, we used multiple low doses of streptozotocin (STZ)-induced diabetic BALB/c mice to explore the effects of SD1 and SD11 supplementation on the regulation of markers related to T1D. Experimental mice were randomly assigned into five groups, non-STZ + V, STZ + V, STZ + SD1, STZ + SD11, and STZ + SDM (mixture of SD1 and SD11), and physiological data were measured every week. Blood and pancreas samples were collected at 4- and 8-weeks. Our results indicate that supplementation with SD1, SD11, or SDM for 8 weeks significantly improved body weights, glycemic levels, glucose tolerance, insulin levels, and lipid profiles. Probiotic administration also preserved islet integrity and increased β-cell mass in STZ-injected mice, as well as prevented infiltration of macrophages, CD4+, and CD8+ T cells into the islets. Significantly, SD1 and SD11 suppressed the levels of IL1-β, TNF-α and IFN-γ and increased IL-10, which is concomitant with the inhibition of cleaved caspase 3, caspase 9, caspase 8, proapoptotic Bax, NF-κBp65, pSTAT1, and iNOS. Additionally, the survival ability of β-cells was mediated by upregulated anti-apoptotic Bcl2. We conclude that SD1 and SD11 attenuate STZ-induced diabetic mice by stabilizing glycemic levels and reducing inflammation, thereby protecting β-cells. Among the probiotic treatment groups, SD11 revealed the best results in almost all parameters, indicating its potential use for alleviating hyperglycemia-associated symptoms.

#5

The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal.

Noise & health2023

Although it is known that sound exposure evokes changes in autonomic activity, the effects of noise and music on the nonlinear behavior of heart rate fluctuations remain poorly understood and controversial. This study aims to assess the influence of sound subjective emotional valence and arousal on the nonlinear characteristics of the autonomic nervous system during passive listening. In this study, 42 subjects listened to four sounds: (1) white noise, (2) road traffic noise, (3) excitatory music, and (4) a lullaby. The experiment consisted of two consecutive sessions: 5 minutes of rest, followed by 5 minutes of listening. RR intervals were recorded during both sessions. The following linear and nonlinear heart rate variability (HRV) indices were computed: Standard deviation of NN (SDNN), The root mean square of successive differences between normal heartbeats (RMSSD), F, high frequency (HF), approximate entropy (ApEn) and sample entropy (SampEn), correlation dimension (D2), Poincaré plot indices (SD1, SD2), fractal scaling exponents (alpha1, alpha2), and recurrence plot indices (mean line length [Lmean], maximum line length [Lmax], determinism [DET], laminarity [LAM], maximal vertical length [Vmax], trapping time [TT], Shannon entropy of line length distribution [ShanEn]). Excitatory music was associated with a significant decrease in SDNN (from 47.3 ± 3.59 to 38.31 ± 3.16, P < 0.01), RMSSD (from 51.07 ± 4.75 to 42.53 ± 3.9, P < 0.05), HF (from 1516.26 ± 245.74 to 884.07 ± 183.44, P < 0.001), and low frequency (LF; from 973.33 ± 176.09 to 760.28 ± 150.35, P < 0.05). Excitatory music exposure induced significant increases in DET (P < 0.01), SD1 (P < 0.05), and SD2 (P < 0.05), but changes in detrended fluctuation analysis (DFA), SampEn, and D2 were nonsignificant. Traffic noise, white noise, and the lullaby did not cause significant changes in the measures of HRV. Presentation of excitatory music that evokes strong negative emotions elicits a prominent decrease in respiratory sinus arrhythmia. Poincaré plot and recurrence plot measures possess high sensitivity to excitatory music. Contrary to previous studies, we did not find the effects of relaxing music on HRV.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC11 artigos no totalmostrando 19

2024

Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.

International journal of radiation biology
2024

Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.

Journal of clinical lipidology
2024

Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.

The Journal of asthma : official journal of the Association for the Care of Asthma
2023

The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal.

Noise &amp; health
2023

Interactions between sulfonamide homologues and glycosyltransferase induced metabolic disorders in rice (Oryza sativa L.).

Environmental pollution (Barking, Essex : 1987)
2023

Longitudinal outcomes for educational placement and quality of life in a prospectively recruited multinational cohort of children with cochlear implants.

International journal of pediatric otorhinolaryngology
2023

Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and β-cell death in streptozotocin-induced type 1 diabetic mice.

PloS one
2023

Organ Transplantation Outcomes of Deceased Organ Donors in Organ Procurement Organization-Based Recovery Facilities Versus Acute-Care Hospitals.

Progress in transplantation (Aliso Viejo, Calif.)
2023

Mathematical model presenting to assess variations in heart rate of ‎different age groups.

Bratislavske lekarske listy
2023

Deciphering the network of cholesterol biosynthesis in Paris polyphylla laid a base for efficient diosgenin production in plant chassis.

Metabolic engineering
2023

Validation of Knock-Out Caco-2 TC7 Cells as Models of Enterocytes of Patients with Familial Genetic Hypobetalipoproteinemias.

Nutrients
2023

Heart Rate Variability Analysis May Identify Individuals With Williams-Beuren Syndrome at Risk of Sudden Death.

JACC. Clinical electrophysiology
2022

Classical heart rate variability and nonlinear heart rate analysis in mice under Napentobarbital and ketamine/xylazine anesthesia.

Turkish journal of medical sciences
2022

Factors important in the correct evaluation of oral high-risk lesions during the telehealth era.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2022

Reliability of the heart rate variability threshold during treadmill exercise.

Clinical physiology and functional imaging
2022

Physicochemical characterization of the recombinant lectin scytovirin and microbicidal activity of the SD1 domain produced in rice against HIV-1.

Plant cell reports
2021

Nucleotide sequences of the infectious DNA clones of two mink enteritis virus isolates exhibit the diversity of the terminal palindromic sequences and predicted secondary structures.

Virus research
2022

Heart rate variability kinetics during different intensity domains of cycling exercise in healthy subjects.

European journal of sport science
2019

Haplotype Characterization of the sd1 Semidwarf Gene in United States Rice.

The plant genome

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Zigodactilia tipo 3.

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Zigodactilia tipo 3

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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. Molecular and physiological characterization of early semi-dwarf mutants of rice and localization of SNP variants in Sd1 locus generated through gamma radiation.
    International journal of radiation biology· 2024· PMID 38285971mais citado
  2. Carotenoids in familial hypobetalipoproteinemia disorders: Malabsorption in Caco2 cell models and severe deficiency in patients.
    Journal of clinical lipidology· 2024· PMID 37989694mais citado
  3. Utilization of electronic portal referrals to a community agency for children presenting with an asthma exacerbation to a pediatric emergency department.
    The Journal of asthma : official journal of the Association for the Care of Asthma· 2024· PMID 37847783mais citado
  4. Probiotics of Lacticaseibacillus paracasei SD1 and Lacticaseibacillus rhamnosus SD11 attenuate inflammation and &#x3b2;-cell death in streptozotocin-induced type 1 diabetic mice.
    PloS one· 2023· PMID 37040355mais citado
  5. The Effect of Auditory Stimulation on the Nonlinear Dynamics of Heart Rate: The Impact of Emotional Valence and Arousal.
    Noise &amp; health· 2023· PMID 37815078mais citado
  6. Oldest Finch-Beaked Birds Reveal Parallel Ecological Radiations in the Earliest Evolution of Passerines.
    Curr Biol· 2019· PMID 30744971recente
  7. Behavioral correlates of semi-zygodactyly in Ospreys (Pandion haliaetus) based on analysis of internet images.
    PeerJ· 2019· PMID 30740269recente
  8. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
    Eur J Hum Genet· 2018· PMID 29581481recente
  9. Zygodactyly (Syndactyly Type A1) Associated With Midfoot Charcot Neuropathy and Diabetes.
    Diabetes Care· 2018· PMID 29472431recente
  10. Early Paleocene landbird supports rapid phylogenetic and morphological diversification of crown birds after the K-Pg mass extinction.
    Proc Natl Acad Sci U S A· 2017· PMID 28696285recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:295191(Orphanet)
  2. MONDO:0017544(MONDO)
  3. GARD:21215(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55787168(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

Zigodactilia tipo 3
Compêndio · Raras BR

Zigodactilia tipo 3

ORPHA:295191 · MONDO:0017544
CID-10
Q70.0 · Coalescência dos dedos (dedos da mão fundidos)
CID-11
MedGen
UMLS
C5679983
EuropePMC
Wikidata
Papers 10a
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