APMR1
MCID: ALP068
MIFTS: 23

Alopecia-Intellectual Disability Syndrome (APMR1)

Categories: Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia-Intellectual Disability Syndrome

MalaCards integrated aliases for Alopecia-Intellectual Disability Syndrome:

Name: Alopecia-Intellectual Disability Syndrome 20 58 29
Amr Syndrome 1 20 6
Alopecia Intellectual Disbility Syndrome 1 20
Alopecia with Severe Intellectual Deficit 20
Alopecia-Mental Retardation Syndrome 1 71
Perniola-Krajewska-Carnevale Syndrome 58
Perniola Krajewska Carnevale Syndrome 71
Apmr1 20

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Alopecia-Intellectual Disability Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2850DefinitionAn extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.Visit the Orphanet disease page for more resources.

MalaCards based summary : Alopecia-Intellectual Disability Syndrome, also known as amr syndrome 1, is related to alopecia-mental retardation syndrome and alopecia-mental retardation syndrome 1, and has symptoms including seizures An important gene associated with Alopecia-Intellectual Disability Syndrome is AHSG (Alpha 2-HS Glycoprotein). Related phenotypes are intellectual disability and hearing impairment

Related Diseases for Alopecia-Intellectual Disability Syndrome

Diseases in the Alopecia-Intellectual Disability Syndrome family:

Alopecia Intellectual Disability Syndrome 2

Diseases related to Alopecia-Intellectual Disability Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alopecia-mental retardation syndrome 31.2 LSS AHSG
2 alopecia-mental retardation syndrome 1 11.4
3 alopecia intellectual disability syndrome 2 11.3
4 alopecia-mental retardation syndrome 4 10.9
5 alopecia 9.7 LSS AHSG

Graphical network of the top 20 diseases related to Alopecia-Intellectual Disability Syndrome:



Diseases related to Alopecia-Intellectual Disability Syndrome

Symptoms & Phenotypes for Alopecia-Intellectual Disability Syndrome

Human phenotypes related to Alopecia-Intellectual Disability Syndrome:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
6 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
7 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
8 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
9 hypotonia 31 hallmark (90%) HP:0001252
10 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
13 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
14 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
15 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
16 hypergonadotropic hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000815
17 short corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0200012
18 seizure 31 frequent (33%) HP:0001250
19 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
20 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
21 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
22 abnormal nasal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005105
23 seizures 58 Frequent (79-30%)
24 muscular hypotonia 58 Very frequent (99-80%)
25 growth delay 58 Frequent (79-30%)
26 abnormality of skeletal morphology 58 Frequent (79-30%)

UMLS symptoms related to Alopecia-Intellectual Disability Syndrome:


seizures

Drugs & Therapeutics for Alopecia-Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Alopecia-Intellectual Disability Syndrome

Genetic Tests for Alopecia-Intellectual Disability Syndrome

Genetic tests related to Alopecia-Intellectual Disability Syndrome:

# Genetic test Affiliating Genes
1 Alopecia-Intellectual Disability Syndrome 29

Anatomical Context for Alopecia-Intellectual Disability Syndrome

Publications for Alopecia-Intellectual Disability Syndrome

Articles related to Alopecia-Intellectual Disability Syndrome:

# Title Authors PMID Year
1
Association of AHSG with alopecia and mental retardation (APMR) syndrome. 6
28054173 2017
2
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. 61
17451405 2007

Variations for Alopecia-Intellectual Disability Syndrome

ClinVar genetic disease variations for Alopecia-Intellectual Disability Syndrome:

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-Intellectual Disability Syndrome

Search GEO for disease gene expression data for Alopecia-Intellectual Disability Syndrome.

Pathways for Alopecia-Intellectual Disability Syndrome

GO Terms for Alopecia-Intellectual Disability Syndrome

Sources for Alopecia-Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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