MRD3
MCID: ATS385
MIFTS: 27

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 73
Mrd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070033
UMLS 73 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 biliary tract disease. 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. Affiliated tissues include skin, 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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.06 NR1I2 NR1I3 PPARA PPARG
2 Decreased viability GR00221-A-2 10.06 NR1I2 NR1I3 PPARA PPARG
3 Decreased viability GR00221-A-3 10.06 PPARA PPARG
4 Decreased viability GR00221-A-4 10.06 PPARA PPARG
5 Decreased viability GR00301-A 10.06 NR1I2 NR1I3 PPARA
6 Decreased viability GR00381-A-1 10.06 PPARA
7 Decreased viability GR00402-S-2 10.06 NR1I2 NR1I3 PPARA PPARG

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.35 NR1I2 NR1I3 PPARA PPARG RARA
2 mortality/aging MP:0010768 9.17 GSTA3 HPGDS NR1I2 NR1I3 PPARA PPARG

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

Search Clinical Trials , 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:

41
Skin

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

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 24)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.99 NR1I2 NR1I3 PPARA PPARG RARA
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 NR1I2 NR1I3 PPARA PPARG RARA
3 multicellular organism development GO:0007275 9.93 NR1I2 NR1I3 PPARA PPARG RARA
4 cell differentiation GO:0030154 9.91 NR1I2 NR1I3 PPARA PPARG RARA
5 positive regulation of transcription, DNA-templated GO:0045893 9.88 NR1I2 PPARA PPARG RARA
6 negative regulation of transcription, DNA-templated GO:0045892 9.77 NR1I2 NR1I3 PPARA PPARG RARA
7 fatty acid metabolic process GO:0006631 9.73 HPGDS PPARA PPARG
8 transcription, DNA-templated GO:0006351 9.71 NR1I2 NR1I3 PPARG RARA
9 cellular response to retinoic acid GO:0071300 9.62 PPARG RARA
10 regulation of circadian rhythm GO:0042752 9.61 PPARA PPARG
11 hormone-mediated signaling pathway GO:0009755 9.61 PPARA PPARG RARA
12 response to retinoic acid GO:0032526 9.6 PPARG RARA
13 glutathione derivative biosynthetic process GO:1901687 9.58 GSTA3 HPGDS
14 response to vitamin A GO:0033189 9.57 PPARG RARA
15 transcription initiation from RNA polymerase II promoter GO:0006367 9.55 NR1I2 NR1I3 PPARA PPARG RARA
16 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.52 PPARA PPARG
17 negative regulation of cholesterol storage GO:0010887 9.49 PPARA PPARG
18 positive regulation of fatty acid oxidation GO:0046321 9.48 PPARA PPARG
19 negative regulation of sequestering of triglyceride GO:0010891 9.46 PPARA PPARG
20 response to lipid GO:0033993 9.43 PPARA PPARG RARA
21 negative regulation of receptor biosynthetic process GO:0010871 9.32 PPARA PPARG
22 intracellular receptor signaling pathway GO:0030522 9.26 NR1I2 NR1I3 PPARA PPARG
23 steroid hormone mediated signaling pathway GO:0043401 9.02 NR1I2 NR1I3 PPARA PPARG RARA
24 signal transduction GO:0007165 10.01 HPGDS NR1I2 NR1I3 PPARG RARA

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

(show all 19)
# 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 9.91 NR1I2 NR1I3 PPARA PPARG RARA
3 zinc ion binding GO:0008270 9.89 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 9.76 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 9.57 PPARA PPARG
12 fatty acid binding GO:0005504 9.55 PPARA PPARG
13 nuclear receptor transcription coactivator activity GO:0030374 9.55 NR1I2 NR1I3 PPARA PPARG RARA
14 glutathione transferase activity GO:0004364 9.54 GSTA3 HPGDS
15 alpha-actinin binding GO:0051393 9.52 PPARG RARA
16 thyroid hormone receptor activity GO:0004887 9.48 NR1I2 NR1I3
17 steroid hormone receptor activity GO:0003707 9.35 NR1I2 NR1I3 PPARA PPARG RARA
18 nuclear receptor activity GO:0004879 9.02 NR1I2 NR1I3 PPARA PPARG RARA
19 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 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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