APMR1
MCID: ALP076
MIFTS: 19

Alopecia-Mental Retardation Syndrome 1 (APMR1)

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

Aliases & Classifications for Alopecia-Mental Retardation Syndrome 1

MalaCards integrated aliases for Alopecia-Mental Retardation Syndrome 1:

Name: Alopecia-Mental Retardation Syndrome 1 58 76 13 74
Amr Syndrome 58 76
Apmr1 58 76
Alopecia with Severe Intellectual Deficit 76
Alopecia Mental Retardation Syndrome 1 6
Amr Syndrome 1 76
Apmr 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
alopecia-mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 203650
MedGen 43 C1859878
SNOMED-CT via HPO 70 258211005 40700009 86166000
UMLS 74 C1859878

Summaries for Alopecia-Mental Retardation Syndrome 1

OMIM : 58 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 intellectual disability syndrome 2. An important gene associated with Alopecia-Mental Retardation Syndrome 1 is AHSG (Alpha 2-HS Glycoprotein). Affiliated tissues include eye, and related phenotypes are intellectual disability, severe and intellectual disability, progressive

UniProtKB/Swiss-Prot : 76 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 11.4
2 alopecia intellectual disability syndrome 2 11.1
3 alopecia 10.1

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 1

Human phenotypes related to Alopecia-Mental Retardation Syndrome 1:

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 33 HP:0010864
2 intellectual disability, progressive 33 HP:0006887
3 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:

203650

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

MalaCards organs/tissues related to Alopecia-Mental Retardation Syndrome 1:

42
Eye

Publications for Alopecia-Mental Retardation Syndrome 1

Articles related to Alopecia-Mental Retardation Syndrome 1:

# Title Authors Year
1
Association of AHSG with alopecia and mental retardation (APMR) syndrome. ( 28054173 )
2017

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 GRCh38 Chromosome 3, 186620776: 186620776
2 AHSG NM_001622.3(AHSG): c.950G> A (p.Arg317His) single nucleotide variant Pathogenic rs201849460 GRCh37 Chromosome 3, 186338565: 186338565

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 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
Content
Loading form....