MRD44
MCID: ATS477
MIFTS: 13

Autosomal Dominant Non-Syndromic Intellectual Disability 44 (MRD44)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 44

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 44:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 44 12 15
Autosomal Dominant Mental Retardation 44 12
Mrd44 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070074

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of TRIO on chromosome 5p15.2.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 44, also known as autosomal dominant mental retardation 44, is related to intellectual developmental disorder, autosomal dominant 44, with microcephaly and autoinflammation, panniculitis, and dermatosis syndrome. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 44 is UBE2QL1 (Ubiquitin Conjugating Enzyme E2 Q Family Like 1).

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 44.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 44

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 44

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 44 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ubiquitin ligase complex GO:0000151 8.62 MED10 FBXL7

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 44 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 8.96 UBE2QL1 FBXL7
2 protein ubiquitination GO:0016567 8.92 UBE2QL1 MED10 MARCHF11 FBXL7

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 44

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
Content
Loading form....