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 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
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,...

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 33 HP:0010864
2 full cheeks 33 HP:0000293
3 micrognathia 33 HP:0000347
4 arthrogryposis multiplex congenita 33 HP:0002804
5 intellectual disability, progressive 33 HP:0006887
6 camptodactyly of finger 33 HP:0100490
7 hammertoe 33 HP:0001765
8 growth hormone deficiency 33 HP:0000824
9 square face 33 HP:0000321
10 distal arthrogryposis 33 HP:0005684

Symptoms via clinical synopsis from OMIM:

58
Mandible:
micrognathia

Endocrine:
hypopituitarism

Neuro:
severe mental retardation

Nose:
small tipped nose

Lab:
growth hormone deficiency

Facies:
square face
chubby cheeks

Limbs:
hammer toes
arthrogryposis, distal
camptodactyly, fingers

Head:
'boxy' shape

Clinical features from OMIM:

208080

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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