MCID: ART055
MIFTS: 11

Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

MalaCards integrated aliases for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies:

Name: Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

MalaCards based summary : Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies Related phenotypes are intellectual disability, severe and full cheeks

Description from OMIM: 208080

Related Diseases for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Symptoms & Phenotypes for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Symptoms via clinical synopsis from OMIM:

57
Mandible:
micrognathia

Endocrine:
hypopituitarism

Limbs:
hammer toes
arthrogryposis, distal
camptodactyly, fingers

Nose:
small tipped nose

Lab:
growth hormone deficiency

Neuro:
severe mental retardation

Facies:
square face
chubby cheeks

Head:
'boxy' shape


Clinical features from OMIM:

208080

Human phenotypes related to Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 32 HP:0010864
2 full cheeks 32 HP:0000293
3 micrognathia 32 HP:0000347
4 arthrogryposis multiplex congenita 32 HP:0002804
5 intellectual disability, progressive 32 HP:0006887
6 camptodactyly of finger 32 HP:0100490
7 hammertoe 32 HP:0001765
8 growth hormone deficiency 32 HP:0000824
9 square face 32 HP:0000321
10 distal arthrogryposis 32 HP:0005684

Drugs & Therapeutics for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies

Genetic Tests for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Anatomical Context for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Publications for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Variations for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Expression for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Search GEO for disease gene expression data for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies.

Pathways for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

GO Terms for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

Sources for Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation,...

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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