MCID: ART112
MIFTS: 22

Arthrogryposis, Distal, Type 10

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

Aliases & Classifications for Arthrogryposis, Distal, Type 10

MalaCards integrated aliases for Arthrogryposis, Distal, Type 10:

Name: Arthrogryposis, Distal, Type 10 54 69
Distal Arthrogryposis Type 10 56
Plantar Flexion Contracture 56
Short Achilles Tendon 56
Short Tendo Calcaneus 56
Da10 56

Characteristics:

Orphanet epidemiological data:

56
distal arthrogryposis type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Miscellaneous:
contractures other than plantar are less common and less severe
plantar contractures become apparent with onset of ambulation
toe-walking
variable severity
onset in early childhood

Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 10:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity childhood onset


Classifications:



External Ids:

OMIM 54 187370
Orphanet 56 ORPHA251515
UMLS via Orphanet 70 C1861238
ICD10 via Orphanet 34 Q68.8
ICD10 33 M67.0

Summaries for Arthrogryposis, Distal, Type 10

MalaCards based summary : Arthrogryposis, Distal, Type 10, also known as distal arthrogryposis type 10, is related to arthrogryposis multiplex congenita, distal, type 1 and distal arthrogryposis, and has symptoms including arthrogryposis multiplex congenita, elbow flexion contracture and hamstring contractures. The drugs Nicotine and Autonomic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes.

Description from OMIM: 187370

Related Diseases for Arthrogryposis, Distal, Type 10

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 10 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 arthrogryposis multiplex congenita, distal, type 1 10.9
2 distal arthrogryposis 9.9

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 10

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
normal serum creatine kinase

Skeletal- Hands:
finger contractures

Skeletal- Feet:
plantar flexion contractures

Skeletal- Limbs:
elbow contractures
hamstring contractures
wrist contractures


Clinical features from OMIM:

187370

Human phenotypes related to Arthrogryposis, Distal, Type 10:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 32 HP:0002804
2 elbow flexion contracture 32 HP:0002987
3 hamstring contractures 32 HP:0003089
4 plantar flexion contractures 32 HP:0008112
5 toe walking 32 HP:0040083
6 distal arthrogryposis 32 HP:0005684
7 camptodactyly of finger 32 HP:0100490
8 wrist flexion contracture 32 HP:0001239

Drugs & Therapeutics for Arthrogryposis, Distal, Type 10

Drugs for Arthrogryposis, Distal, Type 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 942 89594
2 Autonomic Agents Phase 4
3 Central Nervous System Stimulants Phase 4
4 Cholinergic Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Nicotinic Agonists Phase 4
7 Peripheral Nervous System Agents Phase 4
8
Ethanol Approved Phase 2 64-17-5 702

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Nicotine Patch for Marijuana Withdrawal Completed NCT01400243 Phase 4 Nicotine;Placebo Patch
2 Substance Treatment and HIV Testing and Referral System Completed NCT01488630 Phase 2
3 Nutritional Status of Cerebral Palsy Patients in Turkey Completed NCT02589704
4 Effectiveness of MOVI Interventions on Adiposity, Cognition and Motor Competence: MOVI-da10! Not yet recruiting NCT03236363

Search NIH Clinical Center for Arthrogryposis, Distal, Type 10

Genetic Tests for Arthrogryposis, Distal, Type 10

Anatomical Context for Arthrogryposis, Distal, Type 10

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 10:

39
Testes

Publications for Arthrogryposis, Distal, Type 10

Variations for Arthrogryposis, Distal, Type 10

Expression for Arthrogryposis, Distal, Type 10

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 10.

Pathways for Arthrogryposis, Distal, Type 10

GO Terms for Arthrogryposis, Distal, Type 10

Sources for Arthrogryposis, Distal, Type 10

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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