APMR1
MCID: ALP068
MIFTS: 22

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 52 58 29
Alopecia Intellectual Disbility Syndrome 1 52
Alopecia with Severe Intellectual Deficit 52
Alopecia-Mental Retardation Syndrome 1 71
Perniola-Krajewska-Carnevale Syndrome 58
Perniola Krajewska Carnevale Syndrome 71
Amr Syndrome 1 52
Apmr1 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases


Summaries for Alopecia-Intellectual Disability Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2850 Definition An 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 alopecia intellectual disbility syndrome 1, is related to alopecia-mental retardation syndrome and alopecia intellectual disability syndrome 2, and has symptoms including seizures An important gene associated with Alopecia-Intellectual Disability Syndrome is AHSG (Alpha 2-HS Glycoprotein). Affiliated tissues include skin, and related phenotypes are hearing impairment and intellectual disability

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 31.9 LSS AHSG
2 alopecia intellectual disability syndrome 2 12.5
3 alopecia-mental retardation syndrome 1 12.3
4 alopecia-mental retardation syndrome 4 11.3
5 alopecia 9.5 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 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
6 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
7 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
8 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
9 aplasia/hypoplasia of the eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0100840
10 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
11 ichthyosis 58 31 frequent (33%) Frequent (79-30%) HP:0008064
12 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
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 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
20 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
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 growth delay 58 Frequent (79-30%)
25 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

MalaCards organs/tissues related to Alopecia-Intellectual Disability Syndrome:

40
Skin

Publications for Alopecia-Intellectual Disability Syndrome

Articles related to Alopecia-Intellectual Disability Syndrome:

# Title Authors PMID Year
1
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

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
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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