MCID: ART128
MIFTS: 23

Arthrogryposis, Distal, Type 6

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

Aliases & Classifications for Arthrogryposis, Distal, Type 6

MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:

Name: Arthrogryposis, Distal, Type 6 53
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 55
Arthrogryposis and Sensorineural Deafness 53
Distal Arthrogryposis Type 6 55
Da6 53

Characteristics:

Orphanet epidemiological data:

55
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 53 108200
Orphanet 55 ORPHA1144
MESH via Orphanet 42 C535386
UMLS via Orphanet 70 C1862471
ICD10 via Orphanet 33 Q68.8
MedGen 39 C1862471

Summaries for Arthrogryposis, Distal, Type 6

OMIM : 53 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 cachexia, joint stiffness and sensorineural hearing impairment. The drugs Cocaine and Naloxone have been mentioned in the context of this disorder.

Related Diseases for Arthrogryposis, Distal, Type 6

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 6

Symptoms via clinical synopsis from OMIM:

53
Ears:
sensorineural hearing loss

Limbs:
arthrogryposis-like hand anomaly


Clinical features from OMIM:

108200

Human phenotypes related to Arthrogryposis, Distal, Type 6:

55 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 55 31 frequent (33%) Frequent (79-30%) HP:0004326
2 joint stiffness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
5 arachnodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001166
6 arthrogryposis multiplex congenita 31 HP:0002804
7 arthrogryposis-like hand anomaly 31 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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
2
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
3
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
4
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 644073 40400
5 Analgesics Phase 1
6 Central Nervous System Depressants Phase 1
7 Narcotic Antagonists Phase 1
8 Narcotics Phase 1
9 Analgesics, Opioid Phase 1
10 Peripheral Nervous System Agents Phase 1
11 Buprenorphine, Naloxone Drug Combination Phase 1

Interventional clinical trials:


# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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