MRD3
MCID: ATS385
MIFTS: 28

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 70
Mrd3 12

Characteristics:

HPO:

31
autosomal dominant non-syndromic intellectual disability 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070033
UMLS 70 C2675488

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 3

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal dominant 3: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 3, also known as mental retardation, autosomal dominant 3, is related to pericholangitis and cholestasis, progressive familial intrahepatic, 5. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 3 is CDH15 (Cadherin 15), and among its related pathways/superpathways are Bile secretion and Nuclear Receptors in Lipid Metabolism and Toxicity. Affiliated tissues include colon, and related phenotypes are intellectual disability and autistic behavior

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.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 3

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 18
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 pericholangitis 10.1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 5 10.1 ABCB4 ABCB11
3 common bile duct disease 10.1 ABCB4 ABCB11
4 hepatic vascular disease 10.1 U2AF1 ABCB4
5 bile duct cysts 10.1 ABCB4 ABCB11
6 cholestasis, intrahepatic, of pregnancy 3 10.1 ABCB4 ABCB11
7 cholestasis, benign recurrent intrahepatic, 2 10.1 ABCB4 ABCB11
8 leber congenital amaurosis 1 10.1 RD3L RD3
9 leber congenital amaurosis 12 10.1 RD3L RD3
10 familial intrahepatic cholestasis 10.1 ABCB4 ABCB11
11 extrahepatic cholestasis 10.1 ABCB4 ABCB11
12 cholestasis, progressive familial intrahepatic, 3 10.0 ABCB4 ABCB11
13 autosomal dominant non-syndromic intellectual disability 2 10.0 ZNF526 GSTA3
14 cholestasis, progressive familial intrahepatic, 2 10.0 ABCB4 ABCB11
15 cholestasis, intrahepatic, of pregnancy, 1 10.0 ABCB4 ABCB11
16 alagille syndrome 1 10.0 ABCB4 ABCB11
17 autosomal dominant non-syndromic intellectual disability 4 10.0 ZNF526 KIRREL3 CDH15
18 cholestasis, progressive familial intrahepatic, 1 10.0 ABCB4 ABCB11
19 progressive familial intrahepatic cholestasis 9.9 ABCB4 ABCB11
20 heart defects, congenital, and other congenital anomalies 9.9 UGT2B4 ABCB11
21 sitosterolemia 9.9 ABCB4 ABCB11
22 biliary atresia 9.8 ABCB4 ABCB11
23 bilirubin metabolic disorder 9.8 UGT2B4 ABCB4 ABCB11
24 cholestasis, progressive familial intrahepatic, 4 9.7 BAAT ABCB4 ABCB11
25 leber plus disease 9.1 UGT2B4 RD3 BAAT ABCB4 ABCB11

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

Human phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 3:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 autistic behavior 31 very rare (1%) HP:0000729
3 seizure 31 very rare (1%) HP:0001250

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:

40
Colon

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 3

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 3:

# Title Authors PMID Year
1
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. 6
19012874 2008
2
Nuclear receptor and target gene mRNA abundance in duodenum and colon of dogs with chronic enteropathies. 61
16446074 2006

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 3

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

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH15 NM_004933.3(CDH15):c.178C>T (p.Arg60Cys) SNV Pathogenic 17642 rs121434539 GRCh37: 16:89245959-89245959
GRCh38: 16:89179551-89179551
2 CDH15 NM_004933.3(CDH15):c.365C>T (p.Ala122Val) SNV Pathogenic 17644 rs121434541 GRCh37: 16:89249963-89249963
GRCh38: 16:89183555-89183555
3 CDH15 NM_004933.3(CDH15):c.100del (p.Trp34fs) Deletion Pathogenic 997578 GRCh37: 16:89245881-89245881
GRCh38: 16:89179473-89179473
4 CDH15 NM_004933.3(CDH15):c.1748del (p.Gly583fs) Deletion Pathogenic 1028311 GRCh37: 16:89258744-89258744
GRCh38: 16:89192336-89192336
5 CDH15 NM_004933.3(CDH15):c.1376-17G>A SNV Uncertain significance 1034129 GRCh37: 16:89258046-89258046
GRCh38: 16:89191638-89191638
6 CDH15 NM_004933.3(CDH15):c.1615+5G>A SNV Uncertain significance 1034130 GRCh37: 16:89258307-89258307
GRCh38: 16:89191899-89191899
7 CDH15 NM_004933.3(CDH15):c.1742G>A (p.Arg581His) SNV Uncertain significance 1034131 GRCh37: 16:89258739-89258739
GRCh38: 16:89192331-89192331
8 CDH15 NM_004933.3(CDH15):c.472A>G (p.Thr158Ala) SNV Uncertain significance 1034132 GRCh37: 16:89250070-89250070
GRCh38: 16:89183662-89183662
9 CDH15 NM_004933.3(CDH15):c.658C>T (p.Arg220Cys) SNV Uncertain significance 1034133 GRCh37: 16:89251736-89251736
GRCh38: 16:89185328-89185328
10 CDH15 NM_004933.3(CDH15):c.1031A>T (p.Asn344Ile) SNV Uncertain significance 816675 rs1597310928 GRCh37: 16:89256703-89256703
GRCh38: 16:89190295-89190295
11 CDH15 NM_004933.3(CDH15):c.1039C>T (p.Pro347Ser) SNV Uncertain significance 1028309 GRCh37: 16:89256711-89256711
GRCh38: 16:89190303-89190303
12 CDH15 NM_004933.3(CDH15):c.1540G>A (p.Gly514Arg) SNV Uncertain significance 1028310 GRCh37: 16:89258227-89258227
GRCh38: 16:89191819-89191819
13 CDH15 NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) SNV Uncertain significance 17643 rs121434540 GRCh37: 16:89246680-89246680
GRCh38: 16:89180272-89180272
14 CDH15 NM_004933.3(CDH15):c.2369C>T (p.Ala790Val) SNV Likely benign 434633 rs146594802 GRCh37: 16:89261487-89261487
GRCh38: 16:89195079-89195079
15 CDH15 NM_004933.3(CDH15):c.568C>T (p.Arg190Trp) SNV Likely benign 803282 rs137923863 GRCh37: 16:89251646-89251646
GRCh38: 16:89185238-89185238
16 CDH15 NM_004933.3(CDH15):c.767A>T (p.Asn256Ile) SNV Likely benign 803283 rs756845157 GRCh37: 16:89253940-89253940
GRCh38: 16:89187532-89187532
17 CDH15 NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del) Deletion Likely benign 803284 rs749690403 GRCh37: 16:89260168-89260173
GRCh38: 16:89193760-89193765

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

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

# Super pathways Score Top Affiliating Genes
1 11.21 UGT2B4 BAAT ABCB4 ABCB11
2 10.8 ABCB4 ABCB11
3 10.39 BAAT ABCB11
4 10.2 UGT2B4 BAAT ABCB4 ABCB11

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 intercellular canaliculus GO:0046581 8.62 ABCB4 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 lipid homeostasis GO:0055088 9.16 ABCB4 ABCB11
2 bile acid biosynthetic process GO:0006699 8.96 BAAT ABCB11
3 bile acid metabolic process GO:0008206 8.62 BAAT ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.62 ABCB4 ABCB11

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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