APMR2
MCID: ALP075
MIFTS: 14

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 58 13 74
Apmr2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity, see apmr1


HPO:

33
alopecia-mental retardation syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 610422
MedGen 43 C1835852
UMLS 74 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 cone-rod dystrophy and hearing loss 2. 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 11.4
2 cone-rod dystrophy and hearing loss 2 11.1
3 alopecia 10.1

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 2

Human phenotypes related to Alopecia-Mental Retardation Syndrome 2:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 alopecia universalis 33 HP:0002289

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
mental retardation, mild to moderate

Skin Nails Hair Hair:
alopecia, complete

Clinical features from OMIM:

610422

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:

42
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 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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