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DA6
MCID: ART128
MIFTS: 29
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Arthrogryposis, Distal, Type 6 (DA6)
Categories:
Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases
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MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:
Characteristics:Orphanet epidemiological data:58
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Ear diseases Muscle diseases Neuronal diseases Eye diseases Skin diseases Respiratory diseases Bone diseases Smell/Taste diseases Oral diseases
ICD10:
33
Orphanet: 58
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis External Ids:
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NIH Rare Diseases :
52
The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1144 Definition A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. Visit the Orphanet disease page for more resources.
MalaCards based summary : Arthrogryposis, Distal, Type 6, also known as distal arthrogryposis type 6, is related to branchiootic syndrome 1 and brachydactyly, type a4. An important gene associated with Arthrogryposis, Distal, Type 6 is ENY2 (ENY2 Transcription And Export Complex 2 Subunit), and among its related pathways/superpathways is Folate biosynthesis. Related phenotypes are joint stiffness and sensorineural hearing impairment Disease Ontology : 12 A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. OMIM : 56 Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). (108200) |
Human phenotypes related to Arthrogryposis, Distal, Type 6:58 31 (show all 7)
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Cochrane evidence based reviews: arthrogryposis-like hand anomaly and sensorineural deafness |
Genetic tests related to Arthrogryposis, Distal, Type 6:
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Articles related to Arthrogryposis, Distal, Type 6:
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Genes related to Arthrogryposis, Distal, Type 6 (0 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Arthrogryposis, Distal, Type 6.
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Biological processes related to Arthrogryposis, Distal, Type 6 according to GeneCards Suite gene sharing:
Molecular functions related to Arthrogryposis, Distal, Type 6 according to GeneCards Suite gene sharing:
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