APMR3
MCID: ALP063
MIFTS: 14

Alopecia-Mental Retardation Syndrome 3 (APMR3)

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

Aliases & Classifications for Alopecia-Mental Retardation Syndrome 3

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome 3:

Name: Alopecia-Mental Retardation Syndrome 3 57 13 72
Apmr3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
alopecia-mental retardation syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MedGen 42 C3151362
UMLS 72 C3151362

Summaries for Alopecia-Mental Retardation Syndrome 3

MalaCards based summary : Alopecia-Mental Retardation Syndrome 3, also known as apmr3, is related to alopecia-mental retardation syndrome 1 and alopecia-mental retardation syndrome 2. An important gene associated with Alopecia-Mental Retardation Syndrome 3 is APMR3 (Alopecia-Mental Retardation Syndrome 3). Related phenotypes are intellectual disability, severe and alopecia universalis

More information from OMIM: 613930 PS203650

Related Diseases for Alopecia-Mental Retardation Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia-mental retardation syndrome 1 10.2
2 alopecia-mental retardation syndrome 2 10.2
3 autosomal recessive disease 10.2
4 alopecia 10.2
5 alopecia intellectual disability syndrome 2 10.2
6 alopecia-intellectual disability syndrome 10.2

Graphical network of the top 20 diseases related to Alopecia-Mental Retardation Syndrome 3:



Diseases related to Alopecia-Mental Retardation Syndrome 3

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 3

Human phenotypes related to Alopecia-Mental Retardation Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 32 HP:0010864
2 alopecia universalis 32 HP:0002289

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation, severe

Skin Nails Hair Hair:
alopecia, complete

Clinical features from OMIM:

613930

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome 3

Search Clinical Trials , NIH Clinical Center for Alopecia-Mental Retardation Syndrome 3

Genetic Tests for Alopecia-Mental Retardation Syndrome 3

Anatomical Context for Alopecia-Mental Retardation Syndrome 3

Publications for Alopecia-Mental Retardation Syndrome 3

Articles related to Alopecia-Mental Retardation Syndrome 3:

# Title Authors PMID Year
1
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. 38 8
17451405 2007

Variations for Alopecia-Mental Retardation Syndrome 3

Expression for Alopecia-Mental Retardation Syndrome 3

Search GEO for disease gene expression data for Alopecia-Mental Retardation Syndrome 3.

Pathways for Alopecia-Mental Retardation Syndrome 3

GO Terms for Alopecia-Mental Retardation Syndrome 3

Sources for Alopecia-Mental Retardation Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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