DA6
MCID: ART128
MIFTS: 28

Arthrogryposis, Distal, Type 6 (DA6)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 6

MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:

Name: Arthrogryposis, Distal, Type 6 57 20
Distal Arthrogryposis Type 6 12 20 58 15
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 12 58 29
Da6 57 12 20
Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 20 44
Familial Hand Abnormality and Sensori-Neural Deafness 12 20
Arthrogryposis and Sensorineural Deafness 57 12
Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome 58

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;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 6:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111609
OMIM® 57 108200
MeSH 44 C535386
SNOMED-CT 67 720515009
MESH via Orphanet 45 C535386
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 72 C1862471
Orphanet 58 ORPHA1144
MedGen 41 C1862471

Summaries for Arthrogryposis, Distal, Type 6

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1144DefinitionA 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 thiamine-responsive megaloblastic anemia syndrome. An important gene associated with Arthrogryposis, Distal, Type 6 is ENY2 (ENY2 Transcription And Export Complex 2 Subunit). Related phenotypes are joint stiffness and sensorineural hearing impairment

Disease Ontology : 12 A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness.

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for Arthrogryposis, Distal, Type 6

Graphical network of the top 20 diseases related to Arthrogryposis, Distal, Type 6:



Diseases related to Arthrogryposis, Distal, Type 6

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 6

Human phenotypes related to Arthrogryposis, Distal, Type 6:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
6 arthrogryposis multiplex congenita 31 HP:0002804
7 arthrogryposis-like hand anomaly 31 HP:0005612

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Limbs:
arthrogryposis-like hand anomaly

Ears:
sensorineural hearing loss

Clinical features from OMIM®:

108200 (Updated 05-Mar-2021)

Drugs & Therapeutics for Arthrogryposis, Distal, Type 6

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 6

Cochrane evidence based reviews: arthrogryposis-like hand anomaly and sensorineural deafness

Genetic Tests for Arthrogryposis, Distal, Type 6

Genetic tests related to Arthrogryposis, Distal, Type 6:

# Genetic test Affiliating Genes
1 Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 29

Anatomical Context for Arthrogryposis, Distal, Type 6

Publications for Arthrogryposis, Distal, Type 6

Articles related to Arthrogryposis, Distal, Type 6:

# Title Authors PMID Year
1
Familial hand abnormality and sensori-neural deafness: a new syndrome. 61 57
5539065 1971
2
Arthrogryposis: a review and update. 57
19571066 2009
3
A revised and extended classification of the distal arthrogryposes. 57
8923935 1996

Variations for Arthrogryposis, Distal, Type 6

Expression for Arthrogryposis, Distal, Type 6

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 6.

Pathways for Arthrogryposis, Distal, Type 6

GO Terms for Arthrogryposis, Distal, Type 6

Biological processes related to Arthrogryposis, Distal, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic limb morphogenesis GO:0030326 8.62 MYH3 FBN2

Sources for Arthrogryposis, Distal, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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