MCID: ART054
MIFTS: 12

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 57
Contractures of Fingers and Jaw 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
arthrogryposis, distal, type 2e:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 121070
MedGen 42 C1852597

Summaries for Arthrogryposis, Distal, Type 2e

MalaCards based summary : Arthrogryposis, Distal, Type 2e, is also known as contractures of fingers and jaw. Related phenotypes are microcephaly and micrognathia

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:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 micrognathia 32 HP:0000347
3 narrow mouth 32 HP:0000160
4 arthrogryposis multiplex congenita 32 HP:0002804
5 talipes equinovarus 32 HP:0001762
6 trismus 32 HP:0000211
7 distal arthrogryposis 32 HP:0005684
8 mild microcephaly 32 HP:0040196
9 joint contracture of the hand 32 HP:0009473
10 absent antihelix 32 HP:0011234
11 joint contractures involving the joints of the feet 32 HP:0100492

Symptoms via clinical synopsis from OMIM:

57
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

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. 8
7039311 1982
2
A new arthrogryposis syndrome with facial and limb anomalies. 8
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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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