DA6
MCID: ART128
MIFTS: 23

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, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 6

MalaCards integrated aliases for Arthrogryposis, Distal, Type 6:

Name: Arthrogryposis, Distal, Type 6 58
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome 60
Arthrogryposis and Sensorineural Deafness 58
Distal Arthrogryposis Type 6 60
Da6 58

Characteristics:

Orphanet epidemiological data:

60
arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
arthrogryposis, distal, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 108200
MESH via Orphanet 46 C535386
ICD10 via Orphanet 35 Q68.8
UMLS via Orphanet 75 C1862471
Orphanet 60 ORPHA1144
MedGen 43 C1862471

Summaries for Arthrogryposis, Distal, Type 6

OMIM : 58 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. The drugs Buprenorphine and Ethanol have been mentioned in the context of this disorder. 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:

60 33 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
4 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
5 cachexia 60 33 frequent (33%) Frequent (79-30%) HP:0004326
6 arthrogryposis multiplex congenita 33 HP:0002804
7 arthrogryposis-like hand anomaly 33 HP:0005612

Symptoms via clinical synopsis from OMIM:

58
Ears:
sensorineural hearing loss

Limbs:
arthrogryposis-like hand anomaly

Clinical features from OMIM:

108200

Drugs & Therapeutics for Arthrogryposis, Distal, Type 6

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 40400 644073
2
Ethanol Approved Phase 1 64-17-5 702
3
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
4
Naltrexone Approved, Investigational, Vet_approved Phase 1 16590-41-3 5360515
5
Cocaine Approved, Illicit Phase 1 50-36-2 446220 5760
6 Narcotics Phase 1
7 Narcotic Antagonists Phase 1
8 Peripheral Nervous System Agents Phase 1
9 Central Nervous System Depressants Phase 1
10 Analgesics Phase 1
11 Buprenorphine, Naloxone Drug Combination Phase 1
12 Analgesics, Opioid 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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