MCID: ART054
MIFTS: 16

Arthrogryposis, Distal, Type 2e

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Arthrogryposis, Distal, Type 2e

MalaCards integrated aliases for Arthrogryposis, Distal, Type 2e:

Name: Arthrogryposis, Distal, Type 2e 56
Contractures of Fingers and Jaw 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
arthrogryposis, distal, type 2e:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Arthrogryposis, Distal, Type 2e

MalaCards based summary : Arthrogryposis, Distal, Type 2e, is also known as contractures of fingers and jaw. Affiliated tissues include eye, bone and skin, and related phenotypes are micrognathia and microcephaly

More information from OMIM: 121070

Related Diseases for Arthrogryposis, Distal, Type 2e

Symptoms & Phenotypes for Arthrogryposis, Distal, Type 2e

Human phenotypes related to Arthrogryposis, Distal, Type 2e:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 HP:0000347
2 microcephaly 31 HP:0000252
3 arthrogryposis multiplex congenita 31 HP:0002804
4 narrow mouth 31 HP:0000160
5 talipes equinovarus 31 HP:0001762
6 trismus 31 HP:0000211
7 distal arthrogryposis 31 HP:0005684
8 mild microcephaly 31 HP:0040196
9 joint contracture of the hand 31 HP:0009473
10 absent antihelix 31 HP:0011234
11 joint contractures involving the joints of the feet 31 HP:0100492

Symptoms via clinical synopsis from OMIM:

56
Head:
mild microcephaly

Ears:
antihelix absent

Mouth:
small mouth
small jaw
limited jaw movement
horizontal depression above the chin

Limbs:
severe flexion contractures of hands and feet
subluxation of fingers
clubfeet

Clinical features from OMIM:

121070

Drugs & Therapeutics for Arthrogryposis, Distal, Type 2e

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, Type 2e

Genetic Tests for Arthrogryposis, Distal, Type 2e

Anatomical Context for Arthrogryposis, Distal, Type 2e

MalaCards organs/tissues related to Arthrogryposis, Distal, Type 2e:

40
Eye, Bone, Skin

Publications for Arthrogryposis, Distal, Type 2e

Articles related to Arthrogryposis, Distal, Type 2e:

# Title Authors PMID Year
1
The distal arthrogryposes: delineation of new entities--review and nosologic discussion. 56
7039311 1982
2
A new arthrogryposis syndrome with facial and limb anomalies. 56
1130329 1975

Variations for Arthrogryposis, Distal, Type 2e

Expression for Arthrogryposis, Distal, Type 2e

Search GEO for disease gene expression data for Arthrogryposis, Distal, Type 2e.

Pathways for Arthrogryposis, Distal, Type 2e

GO Terms for Arthrogryposis, Distal, Type 2e

Sources for Arthrogryposis, Distal, Type 2e

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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