MCID: ART112
MIFTS: 26

Arthrogryposis, Distal, Type 10

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

Aliases & Classifications for Arthrogryposis, Distal, Type 10

MalaCards integrated aliases for Arthrogryposis, Distal, Type 10:

Name: Arthrogryposis, Distal, Type 10 53 69
Da10 53 55
Congenital Plantar Contractures 53
Distal Arthrogryposis Type 10 55
Plantar Flexion Contracture 55
Tendo Calcaneus, Short 53
Short Achilles Tendon 55
Short Tendo Calcaneus 55

Characteristics:

Orphanet epidemiological data:

55
distal arthrogryposis type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
arthrogryposis, distal, type 10:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity childhood onset


Classifications:



External Ids:

OMIM 53 187370
Orphanet 55 ORPHA251515
UMLS via Orphanet 70 C1861238
ICD10 via Orphanet 33 Q68.8
MedGen 39 C1861238
ICD10 32 M67.0
UMLS 69 C1861238

Summaries for Arthrogryposis, Distal, Type 10

MalaCards based summary : Arthrogryposis, Distal, Type 10, also known as da10, is related to arthrogryposis, distal, type 1a and arthrogryposis multiplex congenita, neurogenic, with myelin defect, and has symptoms including arthrogryposis multiplex congenita, camptodactyly of finger and wrist flexion contracture. 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

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 10

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
wrist contractures
hamstring contractures
elbow contractures

Skeletal Feet:
plantar flexion contractures

Skeletal Hands:
finger contractures

Laboratory Abnormalities:
normal serum creatine kinase


Clinical features from OMIM:

187370

Human phenotypes related to Arthrogryposis, Distal, Type 10:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 31 HP:0002804
2 camptodactyly of finger 31 HP:0100490
3 wrist flexion contracture 31 HP:0001239
4 toe walking 31 HP:0040083
5 plantar flexion contractures 31 HP:0008112
6 elbow flexion contracture 31 HP:0002987
7 hamstring contractures 31 HP:0003089
8 distal arthrogryposis 31 HP:0005684

Drugs & Therapeutics for Arthrogryposis, Distal, Type 10

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved Phase 4 54-11-5 89594 942
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:


# 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:

38
Testes

Publications for Arthrogryposis, Distal, Type 10

Articles related to Arthrogryposis, Distal, Type 10:

# Title Authors Year
1
A new distal arthrogryposis syndrome characterized by plantar flexion contractures. ( 17103435 )
2006

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
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
Content
Loading form....