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 54 60
Alopecia Intellectual Disbility Syndrome 1 54
Alopecia with Severe Intellectual Deficit 54
Alopecia-Mental Retardation Syndrome 1 74
Perniola-Krajewska-Carnevale Syndrome 60
Perniola Krajewska Carnevale Syndrome 74
Amr Syndrome 1 54
Apmr1 54

Classifications:



Summaries for Alopecia-Intellectual Disability Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2850Disease definitionAlopecia-intellectual deficit syndrome is an extremely rare syndrome 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 intellectual disability syndrome 2 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). Affiliated tissues include skin, and related phenotypes are intellectual disability and muscular hypotonia

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 intellectual disability syndrome 2 12.3
2 alopecia-mental retardation syndrome 1 12.2

Symptoms & Phenotypes for Alopecia-Intellectual Disability Syndrome

Human phenotypes related to Alopecia-Intellectual Disability Syndrome:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
6 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
7 sparse scalp hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002209
8 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
9 aplasia/hypoplasia of the eyebrow 60 33 hallmark (90%) Very frequent (99-80%) HP:0100840
10 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
11 eeg abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0002353
12 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
13 ichthyosis 60 33 frequent (33%) Frequent (79-30%) HP:0008064
14 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
15 hypergonadotropic hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000815
16 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
17 split hand 60 33 frequent (33%) Frequent (79-30%) HP:0001171
18 short corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0200012
19 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
20 macrotia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000400
21 flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001371
22 abnormal nasal morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005105
23 growth delay 60 Frequent (79-30%)
24 abnormality of skeletal morphology 60 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

Anatomical Context for Alopecia-Intellectual Disability Syndrome

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

42
Skin

Publications for Alopecia-Intellectual Disability Syndrome

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
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
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