APMR2
MCID: ALP075
MIFTS: 17

Alopecia-Mental Retardation Syndrome 2 (APMR2)

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

Aliases & Classifications for Alopecia-Mental Retardation Syndrome 2

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome 2:

Name: Alopecia-Mental Retardation Syndrome 2 57 12 13 15 70
Apmr2 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see apmr1


HPO:

31
alopecia-mental retardation syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080629
OMIM® 57 610422
OMIM Phenotypic Series 57 PS203650
MedGen 41 C1835852
UMLS 70 C1835852

Summaries for Alopecia-Mental Retardation Syndrome 2

Disease Ontology : 12 An alopecia-mental retardation syndrome that has material basis in linkage to chromosome 3q26.2-q26.31 locus APMR2.

MalaCards based summary : Alopecia-Mental Retardation Syndrome 2, also known as apmr2, is related to alopecia intellectual disability syndrome 2 and alopecia, congenital. An important gene associated with Alopecia-Mental Retardation Syndrome 2 is APMR2 (Alopecia With Mental Retardation Syndrome 2). Related phenotypes are intellectual disability and alopecia universalis

More information from OMIM: 610422 PS203650

Related Diseases for Alopecia-Mental Retardation Syndrome 2

Diseases in the Alopecia-Mental Retardation Syndrome family:

Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2
Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome 4

Diseases related to Alopecia-Mental Retardation Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia intellectual disability syndrome 2 11.3
2 alopecia, congenital 9.9
3 autosomal recessive disease 9.9
4 alopecia 9.9

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 2

Human phenotypes related to Alopecia-Mental Retardation Syndrome 2:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 alopecia universalis 31 HP:0002289

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation, mild to moderate

Skin Nails Hair Hair:
alopecia, complete

Clinical features from OMIM®:

610422 (Updated 05-Apr-2021)

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome 2

Search Clinical Trials , NIH Clinical Center for Alopecia-Mental Retardation Syndrome 2

Genetic Tests for Alopecia-Mental Retardation Syndrome 2

Anatomical Context for Alopecia-Mental Retardation Syndrome 2

Publications for Alopecia-Mental Retardation Syndrome 2

Articles related to Alopecia-Mental Retardation Syndrome 2:

# Title Authors PMID Year
1
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. 57 61
16922726 2006
2
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. 61
17451405 2007

Variations for Alopecia-Mental Retardation Syndrome 2

Expression for Alopecia-Mental Retardation Syndrome 2

Search GEO for disease gene expression data for Alopecia-Mental Retardation Syndrome 2.

Pathways for Alopecia-Mental Retardation Syndrome 2

GO Terms for Alopecia-Mental Retardation Syndrome 2

Sources for Alopecia-Mental Retardation Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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