MCID: ALP076
MIFTS: 17

Alopecia-Mental Retardation Syndrome 1

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Alopecia-Mental Retardation Syndrome 1

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome 1:

Name: Alopecia-Mental Retardation Syndrome 1 57 75 13 73
Amr Syndrome 57 75
Apmr1 57 75
Alopecia with Severe Intellectual Deficit 75
Alopecia Mental Retardation Syndrome 1 6
Amr Syndrome 1 75
Apmr 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous iranian family with a confirmed ahsg mutation has been reported (last curated january 2018)


HPO:

32
alopecia-mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 203650
MedGen 42 C1859878
SNOMED-CT via HPO 69 258211005 86166000 40700009
UMLS 73 C1859878

Summaries for Alopecia-Mental Retardation Syndrome 1

OMIM : 57 Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by Wali et al., 2007). (203650)

MalaCards based summary : Alopecia-Mental Retardation Syndrome 1, also known as amr syndrome, is related to alopecia-intellectual disability syndrome and alopecia. An important gene associated with Alopecia-Mental Retardation Syndrome 1 is AHSG (Alpha 2-HS Glycoprotein). Related phenotypes are intellectual disability, severe and intellectual disability, progressive

UniProtKB/Swiss-Prot : 75 Alopecia-mental retardation syndrome 1: A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe mental retardation.

Related Diseases for Alopecia-Mental Retardation Syndrome 1

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

# Related Disease Score Top Affiliating Genes
1 alopecia-intellectual disability syndrome 11.2
2 alopecia 10.0

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation, severe

Skin Nails Hair Hair:
alopecia, complete


Clinical features from OMIM:

203650

Human phenotypes related to Alopecia-Mental Retardation Syndrome 1:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 32 HP:0010864
2 intellectual disability, progressive 32 HP:0006887
3 alopecia universalis 32 HP:0002289

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome 1

Search Clinical Trials , NIH Clinical Center for Alopecia-Mental Retardation Syndrome 1

Genetic Tests for Alopecia-Mental Retardation Syndrome 1

Anatomical Context for Alopecia-Mental Retardation Syndrome 1

Publications for Alopecia-Mental Retardation Syndrome 1

Variations for Alopecia-Mental Retardation Syndrome 1

ClinVar genetic disease variations for Alopecia-Mental Retardation Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AHSG NM_001622.3(AHSG): c.950G> A (p.Arg317His) single nucleotide variant Pathogenic rs201849460 GRCh37 Chromosome 3, 186338565: 186338565
2 AHSG NM_001622.3(AHSG): c.950G> A (p.Arg317His) single nucleotide variant Pathogenic rs201849460 GRCh38 Chromosome 3, 186620776: 186620776

Expression for Alopecia-Mental Retardation Syndrome 1

Search GEO for disease gene expression data for Alopecia-Mental Retardation Syndrome 1.

Pathways for Alopecia-Mental Retardation Syndrome 1

GO Terms for Alopecia-Mental Retardation Syndrome 1

Sources for Alopecia-Mental Retardation Syndrome 1

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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