APMR1
MCID: ALP076
MIFTS: 21

Alopecia-Mental Retardation Syndrome 1 (APMR1)

Categories: Eye diseases, Genetic 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 56 12 73 13 71
Amr Syndrome 56 73
Apmr1 56 73
Alopecia with Severe Intellectual Deficit 73
Amr Syndrome 1 73
Apmr 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
alopecia-mental retardation syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080628
OMIM 56 203650
OMIM Phenotypic Series 56 PS203650
MedGen 41 C1859878
SNOMED-CT via HPO 68 258211005 40700009 86166000
UMLS 71 C1859878

Summaries for Alopecia-Mental Retardation Syndrome 1

OMIM : 56 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-mental retardation syndrome and alopecia-intellectual disability syndrome. 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

Disease Ontology : 12 An alopecia-mental retardation syndrome that has material basis in homozygous mutation in the AHSG gene on chromosome 3q27.

UniProtKB/Swiss-Prot : 73 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 family:

Alopecia-Mental Retardation Syndrome 1 Alopecia-Mental Retardation Syndrome 2
Alopecia-Mental Retardation Syndrome 3 Alopecia-Mental Retardation Syndrome 4

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-mental retardation syndrome 31.7 APMR1 AHSG
2 alopecia-intellectual disability syndrome 11.5
3 alopecia-mental retardation syndrome 4 11.3
4 alopecia intellectual disability syndrome 2 11.2
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 alopecia 10.2

Graphical network of the top 20 diseases related to Alopecia-Mental Retardation Syndrome 1:



Diseases related to Alopecia-Mental Retardation Syndrome 1

Symptoms & Phenotypes for Alopecia-Mental Retardation Syndrome 1

Human phenotypes related to Alopecia-Mental Retardation Syndrome 1:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 31 HP:0010864
2 intellectual disability, progressive 31 HP:0006887
3 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:

203650

Drugs & Therapeutics for Alopecia-Mental Retardation Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Exposure Physical Therapy Or Conservative Therapy for Patients With Complex Regional Pain Syndrome Type I Completed NCT00817128 Phase 2, Phase 3

Search 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

Articles related to Alopecia-Mental Retardation Syndrome 1:

# Title Authors PMID Year
1
Association of AHSG with alopecia and mental retardation (APMR) syndrome. 6 56
28054173 2017
2
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. 56 61
17451405 2007
3
Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3. 56
16273389 2006
4
A new alopecia/mental retardation syndrome. 56
6842537 1983
5
Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage. 56
6777601 1980

Variations for Alopecia-Mental Retardation Syndrome 1

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AHSG NM_001622.4(AHSG):c.950G>A (p.Arg317His)SNV Pathogenic 488189 rs201849460 3:186338565-186338565 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 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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