MCID: XLN157
MIFTS: 11

X-Linked Intellectual Disability, Porteous Type

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Porteous Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Porteous Type:

Name: X-Linked Intellectual Disability, Porteous Type 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual Disability, Porteous Type

MalaCards based summary : X-Linked Intellectual Disability, Porteous Type An important gene associated with X-Linked Intellectual Disability, Porteous Type is PQBP1 (Polyglutamine Binding Protein 1). Related phenotypes are global developmental delay and intellectual disability, mild

Related Diseases for X-Linked Intellectual Disability, Porteous Type

Symptoms & Phenotypes for X-Linked Intellectual Disability, Porteous Type

Human phenotypes related to X-Linked Intellectual Disability, Porteous Type:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
4 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
8 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
9 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
10 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
11 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
12 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
13 cupped ear 58 31 frequent (33%) Frequent (79-30%) HP:0000378
14 frontal balding 58 31 frequent (33%) Frequent (79-30%) HP:0002292

Drugs & Therapeutics for X-Linked Intellectual Disability, Porteous Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Porteous Type

Genetic Tests for X-Linked Intellectual Disability, Porteous Type

Anatomical Context for X-Linked Intellectual Disability, Porteous Type

Publications for X-Linked Intellectual Disability, Porteous Type

Variations for X-Linked Intellectual Disability, Porteous Type

Expression for X-Linked Intellectual Disability, Porteous Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Porteous Type.

Pathways for X-Linked Intellectual Disability, Porteous Type

GO Terms for X-Linked Intellectual Disability, Porteous Type

Sources for X-Linked Intellectual Disability, Porteous Type

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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