MRD8
MCID: ATS389
MIFTS: 25

Autosomal Dominant Non-Syndromic Intellectual Disability 8 (MRD8)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 8

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 8:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 8 12 15
Mental Retardation, Autosomal Dominant, Type 8 39
Mental Retardation, Autosomal Dominant 8 71
Autosomal Dominant Mental Retardation 8 12
Mrd8 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070038
UMLS 71 C3280282

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 8, also known as mental retardation, autosomal dominant, type 8, is related to neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant and chondrodysplasia-pseudohermaphroditism syndrome. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 8 is TRIT1 (TRNA Isopentenyltransferase 1), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include colon, small intestine and skin.

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 8

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 Autosomal Dominant Non-Syndromic Intellectual Disability 27
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.5
2 chondrodysplasia-pseudohermaphroditism syndrome 10.1 RPS3A FOXL2
3 attenuated familial adenomatous polyposis 10.0 MSH6 MSH2
4 transverse colon cancer 10.0 SIL1 MLH1
5 cervical mucinous adenocarcinoma 10.0 MSH6 MSH2
6 jejunal adenocarcinoma 10.0 MSH6 MLH1
7 legius syndrome 9.9 MSH6 MSH2
8 spherocytosis, type 4 9.9 RPS3A PYDC1
9 rectum signet ring adenocarcinoma 9.9 MSH2 MLH1
10 ascending colon cancer 9.9 MSH2 MLH1
11 lower lip cancer 9.9 MSH2 MLH1
12 anal fistula 9.9 MSH2 MLH1
13 melanocytic nevus syndrome, congenital 9.8 MSH2 MLH1
14 duodenum disease 9.8 MSH2 MLH1
15 ureter, cancer of 9.7 MSH2 MLH1
16 cecum carcinoma 9.7 MSH2 MLH1
17 renal pelvis transitional cell carcinoma 9.6 MSH6 MSH2 MLH1
18 adenosquamous colon carcinoma 9.6 MSH6 MSH2 MLH1
19 extrahepatic bile duct adenoma 9.6 MSH6 MSH2 MLH1
20 adenoma 9.6 MSH6 MSH2 MLH1
21 appendix carcinoid tumor 9.6 MSH6 MSH2 MLH1
22 signet ring cell adenocarcinoma 9.6 SIL1 MSH2 MLH1
23 cervical adenoma malignum 9.6 MSH6 MSH2 MLH1
24 jejunal cancer 9.6 MSH6 MSH2 MLH1
25 colorectal cancer, hereditary nonpolyposis, type 6 9.6 MSH6 MSH2 MLH1
26 sebaceous adenoma 9.6 MSH6 MSH2 MLH1
27 familial colorectal cancer 9.6 MSH2 MLH1
28 sebaceous gland neoplasm 9.6 MSH6 MSH2 MLH1
29 small intestine adenocarcinoma 9.6 MSH6 MSH2 MLH1
30 endometrioid ovary carcinoma 9.6 MSH6 MSH2 MLH1
31 dysplastic nevus syndrome 9.6 MSH6 MSH2 MLH1
32 female reproductive endometrioid cancer 9.6 MSH6 MSH2 MLH1
33 duodenum cancer 9.6 MSH6 MSH2 MLH1
34 sebaceous adenocarcinoma 9.6 MSH6 MSH2 MLH1
35 mismatch repair cancer syndrome 9.6 MSH6 MSH2 MLH1
36 lynch syndrome i 9.6 MSH6 MSH2 MLH1
37 juvenile polyposis syndrome 9.6 MSH6 MSH2 MLH1
38 skin benign neoplasm 9.6 MSH6 MSH2 MLH1
39 retinitis pigmentosa 23 9.6 RPS3A PYDC1 H3-2
40 skin squamous cell carcinoma 9.6 MSH6 MSH2 MLH1
41 endometrial hyperplasia 9.6 MSH6 MSH2 MLH1
42 hereditary breast ovarian cancer syndrome 9.6 MSH6 MSH2 MLH1
43 rectum cancer 9.6 MSH6 MSH2 MLH1
44 colorectal adenocarcinoma 9.5 MSH6 MSH2 MLH1
45 li-fraumeni syndrome 9.5 MSH6 MSH2 MLH1
46 cowden syndrome 9.5 MSH6 MSH2 MLH1
47 melanoma, cutaneous malignant 1 9.5 MSH6 MSH2 MLH1
48 autosomal genetic disease 9.5 MSH6 MSH2 MLH1
49 oligodendroglioma 9.5 MSH6 MSH2 MLH1
50 uterine corpus cancer 9.4 MSH6 MLH1

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 8:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 8

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 8

MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 8:

40
Colon, Small Intestine, Skin, Breast, Ovary, Appendix

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 8.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Pathways related to Autosomal Dominant Non-Syndromic Intellectual Disability 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 MSH6 MSH3 MSH2 MLH1
2 12.35 MSH6 MSH3 MSH2 MLH1
3 11.78 MSH6 MSH3 MSH2 MLH1
4
Show member pathways
11.23 MSH6 MSH3 MSH2 MLH1
5
Show member pathways
11.01 MSH2 MLH1
6 10.79 MSH6 MSH2 MLH1
7 10.79 MSH6 MSH3 MSH2 MLH1

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 8

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.56 MSH6 MSH2 MLH1 H3-2
2 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
3 MutSbeta complex GO:0032302 8.96 MSH3 MSH2
4 mismatch repair complex GO:0032300 8.92 MSH6 MSH3 MSH2 MLH1

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 8 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.85 MSH6 MSH3 MSH2 MLH1
2 DNA repair GO:0006281 9.83 MSH6 MSH3 MSH2 MLH1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.65 MSH6 MSH2 MLH1
4 negative regulation of DNA recombination GO:0045910 9.58 MSH6 MSH3 MSH2
5 reciprocal meiotic recombination GO:0007131 9.56 MSH3 MLH1
6 determination of adult lifespan GO:0008340 9.54 MSH6 MSH2
7 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.51 MSH2 MLH1
9 somatic hypermutation of immunoglobulin genes GO:0016446 9.5 MSH6 MSH2 MLH1
10 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
11 meiotic mismatch repair GO:0000710 9.46 MSH6 MSH3
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MSH2 MLH1
13 positive regulation of helicase activity GO:0051096 9.43 MSH6 MSH3 MSH2
14 maintenance of DNA repeat elements GO:0043570 9.33 MSH6 MSH3 MSH2
15 mismatch repair GO:0006298 9.26 MSH6 MSH3 MSH2 MLH1
16 somatic recombination of immunoglobulin gene segments GO:0016447 8.92 MSH6 MSH3 MSH2 MLH1

Molecular functions related to Autosomal Dominant Non-Syndromic Intellectual Disability 8 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 MSH6 MSH3 MSH2 MLH1
2 single-stranded DNA binding GO:0003697 9.65 MSH3 MSH2 MLH1
3 DNA-dependent ATPase activity GO:0008094 9.61 MSH6 MSH3 MSH2
4 ADP binding GO:0043531 9.52 MSH6 MSH2
5 four-way junction DNA binding GO:0000400 9.51 MSH6 MSH2
6 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
7 oxidized purine DNA binding GO:0032357 9.43 MSH6 MSH3 MSH2
8 dinucleotide insertion or deletion binding GO:0032139 9.4 MSH3 MSH2
9 dinucleotide repeat insertion binding GO:0032181 9.37 MSH3 MSH2
10 single guanine insertion binding GO:0032142 9.33 MSH6 MSH3 MSH2
11 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
12 mismatched DNA binding GO:0030983 9.26 MSH6 MSH3 MSH2 MLH1
13 guanine/thymine mispair binding GO:0032137 8.92 MSH6 MSH3 MSH2 MLH1

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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