MRD2
MCID: ATS384
MIFTS: 34

Autosomal Dominant Non-Syndromic Intellectual Disability 2 (MRD2)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 2:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 2 12 15
Mental Retardation, Autosomal Dominant 2 73
Mrd2 12

Characteristics:

HPO:

32
autosomal dominant non-syndromic intellectual disability 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DOCK8 on chromosome 9p24.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 2, also known as mental retardation, autosomal dominant 2, is related to cholestasis, progressive familial intrahepatic, 5 and biliary tract disease. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 2 is GSTA3 (Glutathione S-Transferase Alpha 3), and among its related pathways/superpathways are PPAR signaling pathway and Nuclear Receptor transcription pathway. Affiliated tissues include skin and prostate, and related phenotypes are intellectual disability and seizures

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 10.1 NR1I2 NR1I3
2 biliary tract disease 10.0 NR1I2 NR1I3
3 bilirubin metabolic disorder 10.0 NR1I3 PKM
4 prostate leiomyosarcoma 10.0 HPGDS KIT
5 pigmentation disease 10.0 KIT PKM
6 skin carcinoma in situ 9.9 HPGDS PPARG
7 alcoholic cardiomyopathy 9.9 PPARA PPARG
8 lipodystrophy, familial partial, type 3 9.9 PPARA PPARG
9 idiopathic edema 9.9 PPARA PPARG
10 3-hydroxyacyl-coa dehydrogenase deficiency 9.8 PPARA PPARG
11 overnutrition 9.8 PPARA PPARG
12 lipid metabolism disorder 9.8 PPARA PPARG
13 large intestine cancer 9.7 HPGDS PKM PPARG
14 proteasome-associated autoinflammatory syndrome 1 9.7 PPARA PPARG
15 autosomal dominant non-syndromic intellectual disability 3 9.3 GSTA3 HPGDS NR1I2 NR1I3 PPARA PPARG

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 2

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 global developmental delay 32 HP:0001263
4 delayed speech and language development 32 HP:0000750

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.26 PKM PPARA PPARG NR1I2 NR1I3 KIT
2 Decreased viability GR00221-A-2 10.26 PPARA PPARG NR1I2 NR1I3
3 Decreased viability GR00221-A-3 10.26 PPARA PPARG
4 Decreased viability GR00221-A-4 10.26 PKM PPARA PPARG
5 Decreased viability GR00231-A 10.26 PKM
6 Decreased viability GR00301-A 10.26 PPARA NR1I2 NR1I3 KIT
7 Decreased viability GR00342-S-1 10.26 PKM
8 Decreased viability GR00342-S-2 10.26 PKM
9 Decreased viability GR00342-S-3 10.26 PKM
10 Decreased viability GR00381-A-1 10.26 PPARA
11 Decreased viability GR00402-S-2 10.26 PKM PPARA PPARG NR1I2 NR1I3 KIT

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 HPGDS KIT NR1I2 NR1I3 PPARA PPARG
2 homeostasis/metabolism MP:0005376 9.8 GSTA3 HPGDS KIT NR1I2 NR1I3 PPARA
3 mortality/aging MP:0010768 9.56 GSTA3 HPGDS KIT NR1I2 NR1I3 PKM
4 liver/biliary system MP:0005370 9.55 KIT NR1I2 NR1I3 PPARA PPARG
5 neoplasm MP:0002006 8.92 HPGDS KIT PKM PPARG

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 2

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 2:

41
Skin, Prostate

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 2.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 2

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 2

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.92 NR1I2 NR1I3 PPARA PPARG

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.96 HPGDS KIT NR1I2 NR1I3 PPARG
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.9 NR1I2 NR1I3 PPARA PPARG
3 multicellular organism development GO:0007275 9.89 NR1I2 NR1I3 PPARA PPARG
4 cell differentiation GO:0030154 9.83 KIT NR1I2 NR1I3 PPARA PPARG
5 negative regulation of transcription, DNA-templated GO:0045892 9.8 NR1I2 NR1I3 PPARA PPARG
6 transcription, DNA-templated GO:0006351 9.71 NR1I2 NR1I3 PPARG
7 fatty acid metabolic process GO:0006631 9.65 HPGDS PPARA PPARG
8 response to nutrient GO:0007584 9.61 PKM PPARG
9 response to insulin GO:0032868 9.58 PKM PPARA
10 hormone-mediated signaling pathway GO:0009755 9.58 PPARA PPARG
11 regulation of circadian rhythm GO:0042752 9.57 PPARA PPARG
12 animal organ regeneration GO:0031100 9.55 PKM PPARG
13 response to lipid GO:0033993 9.52 PPARA PPARG
14 glutathione derivative biosynthetic process GO:1901687 9.51 GSTA3 HPGDS
15 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.46 PPARA PPARG
16 transcription initiation from RNA polymerase II promoter GO:0006367 9.46 NR1I2 NR1I3 PPARA PPARG
17 negative regulation of cholesterol storage GO:0010887 9.4 PPARA PPARG
18 positive regulation of fatty acid oxidation GO:0046321 9.37 PPARA PPARG
19 negative regulation of sequestering of triglyceride GO:0010891 9.32 PPARA PPARG
20 negative regulation of receptor biosynthetic process GO:0010871 9.26 PPARA PPARG
21 steroid hormone mediated signaling pathway GO:0043401 9.26 NR1I2 NR1I3 PPARA PPARG
22 intracellular receptor signaling pathway GO:0030522 8.92 NR1I2 NR1I3 PPARA PPARG

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.86 NR1I2 NR1I3 PPARA PPARG
2 zinc ion binding GO:0008270 9.85 NR1I2 NR1I3 PPARA PPARG
3 sequence-specific DNA binding GO:0043565 9.8 NR1I2 NR1I3 PPARA PPARG
4 transcription factor binding GO:0008134 9.73 NR1I2 NR1I3 PPARA PPARG
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.67 NR1I2 NR1I3 PPARA PPARG
6 signaling receptor activity GO:0038023 9.62 NR1I2 NR1I3 PPARA PPARG
7 drug binding GO:0008144 9.58 NR1I2 PPARA PPARG
8 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 NR1I2 NR1I3 PPARA PPARG
9 RNA polymerase II repressing transcription factor binding GO:0001103 9.54 PPARA PPARG
10 fatty acid binding GO:0005504 9.52 PPARA PPARG
11 glutathione transferase activity GO:0004364 9.51 GSTA3 HPGDS
12 thyroid hormone receptor activity GO:0004887 9.46 NR1I2 NR1I3
13 nuclear receptor transcription coactivator activity GO:0030374 9.46 NR1I2 NR1I3 PPARA PPARG
14 steroid hormone receptor activity GO:0003707 9.26 NR1I2 NR1I3 PPARA PPARG
15 nuclear receptor activity GO:0004879 8.92 NR1I2 NR1I3 PPARA PPARG
16 metal ion binding GO:0046872 10.02 HPGDS KIT NR1I2 NR1I3 PKM PPARA

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 2

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
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