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 53 59
Alopecia Intellectual Disbility Syndrome 1 53
Alopecia with Severe Intellectual Deficit 53
Alopecia-Mental Retardation Syndrome 1 73
Perniola-Krajewska-Carnevale Syndrome 59
Perniola Krajewska Carnevale Syndrome 73
Amr Syndrome 1 53
Apmr1 53

Classifications:



Summaries for Alopecia-Intellectual Disability Syndrome

NIH Rare Diseases : 53 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 seizures

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 12.1

Symptoms & Phenotypes for Alopecia-Intellectual Disability Syndrome

Human phenotypes related to Alopecia-Intellectual Disability Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
5 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
6 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
7 macrotia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000400
8 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
12 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
13 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
14 abnormal nasal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005105
15 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
16 hypergonadotropic hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000815
17 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
18 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
19 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
20 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
21 aplasia/hypoplasia of the eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0100840
22 short corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0200012
23 growth delay 59 Frequent (79-30%)
24 abnormality of skeletal morphology 59 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....