MRD3
MCID: ATS385
MIFTS: 31

Autosomal Dominant Non-Syndromic Intellectual Disability 3 (MRD3)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 3

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 3:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 3 12 15
Mental Retardation, Autosomal Dominant 3 74
Mrd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070033
UMLS 74 C2675488

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CDH15 on chromosome 16q24.3.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 3, also known as mental retardation, autosomal dominant 3, is related to cholestasis, progressive familial intrahepatic, 5 and alcoholic cardiomyopathy. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 3 is CDH15 (Cadherin 15), and among its related pathways/superpathways are Pathways in cancer and Adipogenesis. The drugs Blinatumomab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 3:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 3

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 3

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 3 according to GeneCards Suite gene sharing:

27 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.4 NR1I2 NR1I3 PPARA PPARG
2 Decreased viability GR00221-A-2 10.4 NR1I2 NR1I3 PPARA PPARG
3 Decreased viability GR00221-A-3 10.4 PPARA PPARG
4 Decreased viability GR00221-A-4 10.4 PPARA PPARG
5 Decreased viability GR00301-A 10.4 NR1I2 NR1I3 PPARA
6 Decreased viability GR00381-A-1 10.4 PPARA
7 Decreased viability GR00402-S-2 10.4 NR1I2 NR1I3 PPARA PPARG
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.25 NR1I2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.25 IFNA1 NR1I2 PPARG SULT1A1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.25 IFNA1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.25 IFNA1 PPARG
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.25 SULT1A1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 10.25 SULT1A1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 10.25 PPARG
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 10.25 IFNA1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 10.25 NR1I2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 10.25 NR1I2 SULT1A1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.25 PPARG
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.25 IFNA1 SULT1A1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 10.25 SULT1A1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.25 IFNA1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.25 SULT1A1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.25 NR1I2
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10.25 IFNA1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.25 SULT1A1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.25 SULT1A1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 IFNA1 NR1I2 RARA SULT1A1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.88 SULT1A1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.88 NR1I2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.88 IFNA1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.88 RARA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.88 NR1I2 SULT1A1
33 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.88 NR1I2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.88 SULT1A1
35 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 RARA
36 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.88 IFNA1 NR1I2 SULT1A1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.88 NR1I2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.88 IFNA1 SULT1A1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.88 NR1I2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.88 SULT1A1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.88 IFNA1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 IFNA1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.88 SULT1A1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.88 RARA
45 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.88 SULT1A1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.88 SULT1A1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.88 SULT1A1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.88 IFNA1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 IFNA1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.88 IFNA1

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.02 NR1I2 NR1I3 PPARA PPARG RARA

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Blinatumomab Approved, Investigational Phase 2 853426-35-4
2 Antibodies Phase 2
3 Immunologic Factors Phase 2
4 Immunoglobulins Phase 2
5 Antibodies, Bispecific 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 Not yet recruiting NCT03846362 Phase 3
2 Blinatumomab in High-risk B-cell Precursor Acute Lymphoblastic Leukemia Recruiting NCT03709719 Phase 2 Blinatumomab Injection

Search NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 3

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 3:

42
B Cells

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 3

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH15 NM_004933.2(CDH15): c.178C> T (p.Arg60Cys) single nucleotide variant Pathogenic rs121434539 GRCh37 Chromosome 16, 89245959: 89245959
2 CDH15 NM_004933.2(CDH15): c.178C> T (p.Arg60Cys) single nucleotide variant Pathogenic rs121434539 GRCh38 Chromosome 16, 89179551: 89179551
3 CDH15 NM_004933.2(CDH15): c.274C> T (p.Arg92Trp) single nucleotide variant Uncertain significance rs121434540 GRCh37 Chromosome 16, 89246680: 89246680
4 CDH15 NM_004933.2(CDH15): c.274C> T (p.Arg92Trp) single nucleotide variant Uncertain significance rs121434540 GRCh38 Chromosome 16, 89180272: 89180272
5 CDH15 NM_004933.2(CDH15): c.365C> T (p.Ala122Val) single nucleotide variant Pathogenic rs121434541 GRCh37 Chromosome 16, 89249963: 89249963
6 CDH15 NM_004933.2(CDH15): c.365C> T (p.Ala122Val) single nucleotide variant Pathogenic rs121434541 GRCh38 Chromosome 16, 89183555: 89183555
7 CDH15 NM_004933.2(CDH15): c.2369C> T (p.Ala790Val) single nucleotide variant Likely benign rs146594802 GRCh38 Chromosome 16, 89195079: 89195079
8 CDH15 NM_004933.2(CDH15): c.2369C> T (p.Ala790Val) single nucleotide variant Likely benign rs146594802 GRCh37 Chromosome 16, 89261487: 89261487

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 3.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 3

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 9.02 NR1I2 NR1I3 PPARA PPARG RARA

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 3 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 NR1I2 NR1I3 PPARA PPARG RARA
2 multicellular organism development GO:0007275 9.97 NR1I2 NR1I3 PPARA PPARG RARA
3 cell differentiation GO:0030154 9.91 NR1I2 NR1I3 PPARA PPARG RARA
4 positive regulation of transcription, DNA-templated GO:0045893 9.88 NR1I2 PPARA PPARG RARA
5 lipid metabolic process GO:0006629 9.86 HPGDS PPARA PPARG SULT1A1
6 negative regulation of transcription, DNA-templated GO:0045892 9.8 NR1I2 NR1I3 PPARA PPARG RARA
7 fatty acid metabolic process GO:0006631 9.71 HPGDS PPARA PPARG
8 regulation of circadian rhythm GO:0042752 9.61 PPARA PPARG
9 response to retinoic acid GO:0032526 9.59 PPARG RARA
10 glutathione derivative biosynthetic process GO:1901687 9.55 GSTA3 HPGDS
11 transcription initiation from RNA polymerase II promoter GO:0006367 9.55 NR1I2 NR1I3 PPARA PPARG RARA
12 hormone-mediated signaling pathway GO:0009755 9.54 PPARA PPARG RARA
13 response to vitamin A GO:0033189 9.52 PPARG RARA
14 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.49 PPARA PPARG
15 negative regulation of cholesterol storage GO:0010887 9.48 PPARA PPARG
16 positive regulation of fatty acid oxidation GO:0046321 9.46 PPARA PPARG
17 negative regulation of sequestering of triglyceride GO:0010891 9.43 PPARA PPARG
18 response to lipid GO:0033993 9.43 PPARA PPARG RARA
19 negative regulation of receptor biosynthetic process GO:0010871 9.32 PPARA PPARG
20 intracellular receptor signaling pathway GO:0030522 9.26 NR1I2 NR1I3 PPARA PPARG
21 steroid hormone mediated signaling pathway GO:0043401 9.02 NR1I2 NR1I3 PPARA PPARG RARA
22 regulation of transcription, DNA-templated GO:0006355 10 NR1I2 NR1I3 PPARA PPARG RARA

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 3 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 NR1I2 NR1I3 PPARA PPARG RARA
2 DNA-binding transcription factor activity GO:0003700 9.89 NR1I2 NR1I3 PPARA PPARG RARA
3 zinc ion binding GO:0008270 9.88 NR1I2 NR1I3 PPARA PPARG RARA
4 sequence-specific DNA binding GO:0043565 9.85 NR1I2 NR1I3 PPARA PPARG RARA
5 transcription factor binding GO:0008134 9.83 NR1I2 NR1I3 PPARA PPARG RARA
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.8 NR1I2 NR1I3 PPARA PPARG RARA
7 signaling receptor activity GO:0038023 9.77 NR1I2 NR1I3 PPARA PPARG RARA
8 transcription coactivator activity GO:0003713 9.75 NR1I2 NR1I3 RARA
9 transcription regulatory region sequence-specific DNA binding GO:0000976 9.65 NR1I2 NR1I3 PPARA PPARG RARA
10 drug binding GO:0008144 9.62 NR1I2 PPARA PPARG RARA
11 RNA polymerase II repressing transcription factor binding GO:0001103 9.55 PPARA PPARG
12 nuclear receptor transcription coactivator activity GO:0030374 9.55 NR1I2 NR1I3 PPARA PPARG RARA
13 fatty acid binding GO:0005504 9.54 PPARA PPARG
14 glutathione transferase activity GO:0004364 9.52 GSTA3 HPGDS
15 alpha-actinin binding GO:0051393 9.51 PPARG RARA
16 steroid hormone receptor activity GO:0003707 9.35 NR1I2 NR1I3 PPARA PPARG RARA
17 nuclear receptor activity GO:0004879 9.02 NR1I2 NR1I3 PPARA PPARG RARA
18 metal ion binding GO:0046872 10.1 CDH15 HPGDS NR1I2 NR1I3 PPARA PPARG

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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34 ICD10
35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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