APMR2
MCID: ALP075
MIFTS: 15

Alopecia-Mental Retardation Syndrome 2 (APMR2)

Categories: Eye diseases, Mental diseases, Neuronal diseases, Rare 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 13 73
Apmr2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see apmr1


HPO:

32
alopecia-mental retardation syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 610422
MedGen 42 C1835852
UMLS 73 C1835852

Summaries for Alopecia-Mental Retardation Syndrome 2

MalaCards based summary : Alopecia-Mental Retardation Syndrome 2, also known as apmr2, is related to alopecia intellectual disability syndrome 2 and perrault syndrome 1. An important gene associated with Alopecia-Mental Retardation Syndrome 2 is APMR2 (Alopecia With Mental Retardation Syndrome 2). Affiliated tissues include eye, and related phenotypes are intellectual disability and alopecia universalis

Description from OMIM: 610422

Related Diseases for Alopecia-Mental Retardation Syndrome 2

Diseases in the Alopecia-Mental Retardation Syndrome 1 family:

Alopecia-Mental Retardation Syndrome 2 Alopecia-Mental Retardation Syndrome 3

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 perrault syndrome 1 11.1
3 alopecia 10.1

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation, mild to moderate

Skin Nails Hair Hair:
alopecia, complete


Clinical features from OMIM:

610422

Human phenotypes related to Alopecia-Mental Retardation Syndrome 2:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 alopecia universalis 32 HP:0002289

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

MalaCards organs/tissues related to Alopecia-Mental Retardation Syndrome 2:

41
Eye

Publications for Alopecia-Mental Retardation Syndrome 2

Articles related to Alopecia-Mental Retardation Syndrome 2:

# Title Authors Year
1
A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. ( 16922726 )
2006

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 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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