MCID: ALP110
MIFTS: 17

Alopecia-Mental Retardation Syndrome

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alopecia-Mental Retardation Syndrome

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome:

Name: Alopecia-Mental Retardation Syndrome 12 36 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080627
KEGG 36 H02303

Summaries for Alopecia-Mental Retardation Syndrome

KEGG : 36 Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder characterized by total or partial absence of hair from the scalp and other parts of the body and associated with mental retardation. Three regions associated with APMR have been identified. Recently, a novel pathogenic, missense mutation in the AHSG has been revealed. AHSG maps within APMR linkage region 1 (APMR1) as reported before.

MalaCards based summary : Alopecia-Mental Retardation Syndrome is related to alopecia-mental retardation syndrome 1 and alopecia-intellectual disability syndrome. An important gene associated with Alopecia-Mental Retardation Syndrome is APMR3 (Alopecia-Mental Retardation Syndrome 3), and among its related pathways/superpathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Sterol Regulatory Element-Binding Proteins (SREBP) signalling.

Disease Ontology : 12 A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation.

Related Diseases for Alopecia-Mental Retardation Syndrome

Graphical network of the top 20 diseases related to Alopecia-Mental Retardation Syndrome:



Diseases related to Alopecia-Mental Retardation Syndrome

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome

Search Clinical Trials , NIH Clinical Center for Alopecia-Mental Retardation Syndrome

Genetic Tests for Alopecia-Mental Retardation Syndrome

Anatomical Context for Alopecia-Mental Retardation Syndrome

Publications for Alopecia-Mental Retardation Syndrome

Articles related to Alopecia-Mental Retardation Syndrome:

# Title Authors PMID Year
1
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. 61
18616779 2008
2
Alopecia-mental retardation syndrome associated with convulsions and hypergonadotropic hypogonadism. 61
8721564 1996
3
Alopecia/mental retardation syndrome. 61
8533801 1995
4
Alopecia, mental retardation, epilepsy and microcephaly in two cousins. 61
1345516 1992
5
A new alopecia/mental retardation syndrome. 61
6842537 1983

Variations for Alopecia-Mental Retardation Syndrome

Expression for Alopecia-Mental Retardation Syndrome

Search GEO for disease gene expression data for Alopecia-Mental Retardation Syndrome.

Pathways for Alopecia-Mental Retardation Syndrome

Pathways related to Alopecia-Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.94 MBTPS2 LSS
2 10.49 MBTPS2 LSS

GO Terms for Alopecia-Mental Retardation Syndrome

Biological processes related to Alopecia-Mental Retardation Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of cholesterol biosynthetic process GO:0045540 8.62 MBTPS2 LSS

Sources for Alopecia-Mental Retardation Syndrome

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
Content
Loading form....