MCID: ART128
MIFTS: 20

Arthrogryposis, Distal, Type 6

Categories: Ear diseases, Fetal diseases, Rare diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 6

MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:

Name: Arthrogryposis, Distal, Type 6 54
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 56
Distal Arthrogryposis Type 6 56

Characteristics:

Orphanet epidemiological data:

56
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 108200
Orphanet 56 ORPHA1144
MESH via Orphanet 43 C535386
UMLS via Orphanet 70 C1862471
ICD10 via Orphanet 34 Q68.8

Summaries for Arthrogryposis, Distal, Type 6

OMIM : 54
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, and has symptoms including short stature, joint stiffness and arachnodactyly. The drugs Buprenorphine and Cocaine have been mentioned in the context of this disorder.

Related Diseases for Arthrogryposis, Distal, Type 6

Diseases in the Distal Arthrogryposis family:

Arthrogryposis, Distal, Type 10 Arthrogryposis, Distal, Type 5d
Arthrogryposis, Distal, Type 2b Arthrogryposis, Distal, Type 1b
Arthrogryposis, Distal, Type 2a Arthrogryposis, Distal, Type 8
Arthrogryposis, Distal, Type 5 Arthrogryposis, Distal, Type 3
Arthrogryposis, Distal, Type 6 Arthrogryposis, Distal, Type 4

Diseases related to Arthrogryposis, Distal, Type 6 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 arthrogryposis-like hand anomaly and sensorineural deafness 11.0

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 6

Symptoms via clinical synopsis from OMIM:

54

Ears:
sensorineural hearing loss

Limbs:
arthrogryposis-like hand anomaly


Clinical features from OMIM:

108200

Human phenotypes related to Arthrogryposis, Distal, Type 6:

56 32 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001387
3 arachnodactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001166
4 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
5 cachexia 56 32 frequent (33%) Frequent (79-30%) HP:0004326
6 arthrogryposis multiplex congenita 32 HP:0002804
7 arthrogryposis-like hand anomaly 32 HP:0005612

Drugs & Therapeutics for Arthrogryposis, Distal, Type 6

Drugs for Arthrogryposis, Distal, Type 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 40400 644073
2
Cocaine Approved, Illicit Phase 1 50-36-2 5760 446220
3
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
4
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
5 Analgesics Phase 1
6 Analgesics, Opioid Phase 1
7 Buprenorphine, Naloxone Drug Combination Phase 1
8 Central Nervous System Depressants Phase 1
9 Narcotic Antagonists Phase 1
10 Narcotics Phase 1
11 Peripheral Nervous System Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Buprenorphine Naltrexone-P1 A-Cocaine Completed NCT00733720 Phase 1 Suboxone

Search 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

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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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