APMR3
MCID: ALP063
MIFTS: 13

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 58 13 74
Apmr3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

33
alopecia-mental retardation syndrome 3:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613930
MedGen 43 C3151362
SNOMED-CT via HPO 70 258211005 40700009 86166000
UMLS 74 C3151362

Summaries for Alopecia-Mental Retardation Syndrome 3

MalaCards based summary : Alopecia-Mental Retardation Syndrome 3, also known as apmr3, is related to alopecia. 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

Description from OMIM: 613930

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 10.1

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 3

Human phenotypes related to Alopecia-Mental Retardation Syndrome 3:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 33 HP:0010864
2 alopecia universalis 33 HP:0002289

Symptoms via clinical synopsis from OMIM:

58
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 Year
1
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. ( 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
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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