DA6
MCID: ART128
MIFTS: 18

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

Aliases & Classifications for Arthrogryposis, Distal, Type 6

MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:

Name: Arthrogryposis, Distal, Type 6 57
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 59
Arthrogryposis and Sensorineural Deafness 57
Distal Arthrogryposis Type 6 59
Da6 57

Characteristics:

Orphanet epidemiological data:

59
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MESH via Orphanet 45 C535386
ICD10 via Orphanet 34 Q68.8
UMLS via Orphanet 73 C1862471
Orphanet 59 ORPHA1144
MedGen 42 C1862471

Summaries for Arthrogryposis, Distal, Type 6

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)

MalaCards based summary : Arthrogryposis, Distal, Type 6, also known as arthrogryposis-like hand anomaly-sensorineural deafness syndrome, is related to arthrogryposis-like hand anomaly and sensorineural deafness. Related phenotypes are joint stiffness and sensorineural hearing impairment

Related Diseases for Arthrogryposis, Distal, Type 6

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 6

Human phenotypes related to Arthrogryposis, Distal, Type 6:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
6 arthrogryposis multiplex congenita 32 HP:0002804
7 arthrogryposis-like hand anomaly 32 HP:0005612

Symptoms via clinical synopsis from OMIM:

57
Limbs:
arthrogryposis-like hand anomaly

Ears:
sensorineural hearing loss

Clinical features from OMIM:

108200

Drugs & Therapeutics for Arthrogryposis, Distal, Type 6

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

Genetic Tests for Arthrogryposis, Distal, Type 6

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
Arthrogryposis: a review and update. 8
19571066 2009
2
A revised and extended classification of the distal arthrogryposes. 8
8923935 1996
3
Familial hand abnormality and sensori-neural deafness: a new syndrome. 8
5539065 1971

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

Sources for Arthrogryposis, Distal, Type 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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