MCID: ART112
MIFTS: 27

Arthrogryposis, Distal, Type 10

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

Aliases & Classifications for Arthrogryposis, Distal, Type 10

MalaCards integrated aliases for Arthrogryposis, Distal, Type 10:

Name: Arthrogryposis, Distal, Type 10 57 73
Da10 57 59
Congenital Plantar Contractures 57
Distal Arthrogryposis Type 10 59
Plantar Flexion Contracture 59
Tendo Calcaneus, Short 57
Short Achilles Tendon 59
Short Tendo Calcaneus 59

Characteristics:

Orphanet epidemiological data:

59
distal arthrogryposis type 10
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

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


Classifications:



External Ids:

OMIM 57 187370
Orphanet 59 ORPHA251515
ICD10 via Orphanet 34 Q68.8
UMLS via Orphanet 74 C1861238
MedGen 42 C1861238
ICD10 33 M67.0
UMLS 73 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 brain injury. The drugs Nicotine and Central Nervous System Stimulants have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are wrist flexion contracture and arthrogryposis multiplex congenita

Description from OMIM: 187370

Related Diseases for Arthrogryposis, Distal, Type 10

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 10

Symptoms via clinical synopsis from OMIM:

57
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:

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

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 54-11-5 942 89594
2 Central Nervous System Stimulants Phase 4
3 Cholinergic Agents Phase 4
4 Neurotransmitter Agents Phase 4
5 Nicotinic Agonists Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Autonomic 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! Recruiting NCT03236363 Not Applicable

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:

41
Testes, Brain

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
2
Use of a static adjustable ankle-foot orthosis following tibial nerve block to reduce plantar-flexion contracture in an individual with brain injury. ( 12405873 )
2002

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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