APMR3
MCID: ALP063
MIFTS: 15

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 56 13 71
Apmr3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
alopecia-mental retardation syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 56 613930
OMIM Phenotypic Series 56 PS203650
MedGen 41 C3151362
SNOMED-CT via HPO 68 258211005 40700009 86166000
UMLS 71 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). Affiliated tissues include eye, and 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:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 HP:0010864
2 alopecia universalis 31 HP:0002289

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Alopecia-Mental Retardation Syndrome 3:

40
Eye

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. 61 56
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 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
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