MCID: ATS384
MIFTS: 35

Autosomal Dominant Non-Syndromic Intellectual Disability 2

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 74
Mrd2 12

Characteristics:

HPO:

33
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 bilirubin metabolic disorder. 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 Central carbon metabolism in cancer and Nuclear Receptor transcription pathway. The drugs Lenograstim and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include b cells, skin and prostate, and related phenotypes are seizures and intellectual disability

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
Autosomal Dominant Non-Syndromic Intellectual Disability 19 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 11)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 5 10.1 NR1I2 NR1I3
2 bilirubin metabolic disorder 10.0 NR1I3 PKM
3 biliary tract disease 9.9 NR1I2 NR1I3
4 prostate leiomyosarcoma 9.9 HPGDS KIT
5 skin carcinoma in situ 9.8 HPGDS PPARG
6 alcoholic cardiomyopathy 9.8 PPARA PPARG
7 lipodystrophy, familial partial, type 3 9.8 PPARA PPARG
8 idiopathic edema 9.7 PPARA PPARG
9 3-hydroxyacyl-coa dehydrogenase deficiency 9.5 PPARA PPARG
10 large intestine cancer 9.4 HPGDS PKM PPARG
11 autosomal dominant non-syndromic intellectual disability 3 8.9 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:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 occasional (7.5%) HP:0001250
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 delayed speech and language development 33 HP:0000750

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

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 NR1I2 NR1I3 PPARA PPARG KIT PKM
2 Decreased viability GR00221-A-2 10.15 NR1I2 NR1I3 PPARA PPARG
3 Decreased viability GR00221-A-3 10.15 PPARA PPARG
4 Decreased viability GR00221-A-4 10.15 PPARA PPARG PKM
5 Decreased viability GR00231-A 10.15 PKM
6 Decreased viability GR00301-A 10.15 NR1I2 NR1I3 PPARA KIT
7 Decreased viability GR00342-S-1 10.15 PKM
8 Decreased viability GR00342-S-2 10.15 PKM
9 Decreased viability GR00342-S-3 10.15 PKM
10 Decreased viability GR00381-A-1 10.15 PPARA
11 Decreased viability GR00402-S-2 10.15 NR1I2 NR1I3 PPARA PPARG KIT PKM

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 GSTA3 HPGDS KIT NR1I2 NR1I3 PPARA
2 mortality/aging MP:0010768 9.56 GSTA3 HPGDS KIT NR1I2 NR1I3 PKM
3 liver/biliary system MP:0005370 9.55 KIT NR1I2 NR1I3 PPARA PPARG
4 neoplasm MP:0002006 8.92 HPGDS KIT PKM PPARG

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

Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
2
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
3 Adjuvants, Immunologic Phase 2, Phase 3
4 Immunologic Factors Phase 2, Phase 3
5
Blinatumomab Approved, Investigational Phase 2 853426-35-4
6 Immunoglobulins Phase 2
7 Antibodies, Bispecific Phase 2
8 Antibodies Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Prospective Multicenter Clinical Trial of MRD-based Treatment Strategy in Children and Young Adults With AML Recruiting NCT03846362 Phase 3
2 The Effect of G-CSF on MRD After Induction Therapy in Newly Diagnosed AML Recruiting NCT03665480 Phase 2, Phase 3 G-SCF
3 Blinatumomab in High-risk B-cell Precursor Acute Lymphoblastic Leukemia Recruiting NCT03709719 Phase 2 Blinatumomab Injection
4 An Outcomes Assessment of the Utility of Belladerm Acellular Dermal Allograft in Ocular Lower Lid Retraction Repair Completed NCT02133495 Not Applicable
5 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478

Search 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:

42
B Cells, 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 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.97 HPGDS KIT NR1I2 NR1I3 PPARG
2 negative regulation of transcription, DNA-templated GO:0045892 9.83 NR1I2 NR1I3 PPARA PPARG
3 lipid metabolic process GO:0006629 9.8 HPGDS PPARA PPARG SULT1A1
4 cell differentiation GO:0030154 9.73 NR1I2 NR1I3 PPARA PPARG
5 fatty acid metabolic process GO:0006631 9.65 HPGDS PPARA PPARG
6 hormone-mediated signaling pathway GO:0009755 9.57 PPARA PPARG
7 regulation of circadian rhythm GO:0042752 9.56 PPARA PPARG
8 animal organ regeneration GO:0031100 9.55 PKM PPARG
9 response to lipid GO:0033993 9.54 PPARA PPARG
10 glutathione derivative biosynthetic process GO:1901687 9.51 GSTA3 HPGDS
11 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.46 PPARA PPARG
12 transcription initiation from RNA polymerase II promoter GO:0006367 9.46 NR1I2 NR1I3 PPARA PPARG
13 negative regulation of cholesterol storage GO:0010887 9.4 PPARA PPARG
14 positive regulation of fatty acid oxidation GO:0046321 9.37 PPARA PPARG
15 negative regulation of sequestering of triglyceride GO:0010891 9.32 PPARA PPARG
16 negative regulation of receptor biosynthetic process GO:0010871 9.26 PPARA PPARG
17 steroid hormone mediated signaling pathway GO:0043401 9.26 NR1I2 NR1I3 PPARA PPARG
18 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 transferase activity GO:0016740 9.95 GSTA3 HPGDS KIT PKM SULT1A1
2 DNA-binding transcription factor activity GO:0003700 9.86 NR1I2 NR1I3 PPARA PPARG
3 zinc ion binding GO:0008270 9.84 NR1I2 NR1I3 PPARA PPARG
4 sequence-specific DNA binding GO:0043565 9.81 NR1I2 NR1I3 PPARA PPARG
5 transcription factor binding GO:0008134 9.73 NR1I2 NR1I3 PPARA PPARG
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.67 NR1I2 NR1I3 PPARA PPARG
7 signaling receptor activity GO:0038023 9.62 NR1I2 NR1I3 PPARA PPARG
8 drug binding GO:0008144 9.58 NR1I2 PPARA PPARG
9 transcription regulatory region sequence-specific DNA binding GO:0000976 9.56 NR1I2 NR1I3 PPARA PPARG
10 RNA polymerase II repressing transcription factor binding GO:0001103 9.52 PPARA PPARG
11 fatty acid binding GO:0005504 9.48 PPARA PPARG
12 glutathione transferase activity GO:0004364 9.46 GSTA3 HPGDS
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 10.04 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 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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