MRD8
MCID: ATS389
MIFTS: 23

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. Related phenotype is neoplasm.

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 24
Autosomal Dominant Non-Syndromic Intellectual Disability 27 Autosomal Dominant Non-Syndromic Intellectual Disability 32
Autosomal Dominant Non-Syndromic Intellectual Disability 44 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 70)
# 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 esophagus sarcoma 10.0 MSH6 MSH2
6 jejunal adenocarcinoma 9.9 MSH6 MLH1
7 rectum signet ring adenocarcinoma 9.9 MSH2 MLH1
8 legius syndrome 9.9 MSH6 MSH2
9 familial colorectal cancer 9.9 MSH2 MLH1
10 ascending colon cancer 9.9 MSH2 MLH1
11 lower lip cancer 9.9 MSH2 MLH1
12 b-lymphoblastic leukemia/lymphoma 9.9 MSH6 MSH2
13 anal fistula 9.8 MSH2 MLH1
14 spherocytosis, type 4 9.8 RPS3A PYDC1
15 melanocytic nevus syndrome, congenital 9.8 MSH2 MLH1
16 ureter, cancer of 9.8 MSH2 MLH1
17 uterine body mixed cancer 9.7 MSH2 MLH1
18 signet ring cell adenocarcinoma 9.7 SIL1 MSH2 MLH1
19 extrahepatic bile duct adenoma 9.6 MSH6 MSH2 MLH1
20 renal pelvis transitional cell carcinoma 9.6 MSH6 MSH2 MLH1
21 adenosquamous colon carcinoma 9.6 MSH6 MSH2 MLH1
22 appendix carcinoid tumor 9.6 MSH6 MSH2 MLH1
23 jejunal cancer 9.6 MSH6 MSH2 MLH1
24 colorectal cancer, hereditary nonpolyposis, type 6 9.6 MSH6 MSH2 MLH1
25 sebaceous gland neoplasm 9.6 MSH6 MSH2 MLH1
26 sebaceous adenoma 9.6 MSH6 MSH2 MLH1
27 endometrioid ovary carcinoma 9.6 MSH6 MSH2 MLH1
28 duodenum adenocarcinoma 9.6 MSH6 MSH2 MLH1
29 small intestine adenocarcinoma 9.6 MSH6 MSH2 MLH1
30 dysplastic nevus syndrome 9.6 MSH6 MSH2 MLH1
31 breast-ovarian cancer, familial 1 9.6 MSH6 MSH2 MLH1
32 female reproductive endometrioid cancer 9.6 MSH6 MSH2 MLH1
33 duodenum cancer 9.6 MSH6 MSH2 MLH1
34 duodenum disease 9.6 MSH6 MSH2 MLH1
35 sebaceous adenocarcinoma 9.6 MSH6 MSH2 MLH1
36 cecum carcinoma 9.6 MSH6 MSH2 MLH1
37 mismatch repair cancer syndrome 9.6 MSH6 MSH2 MLH1
38 hereditary mixed polyposis syndrome 9.6 MSH6 MSH2 MLH1
39 uterine corpus cancer 9.6 MSH6 MSH2 MLH1
40 lynch syndrome i 9.6 MSH6 MSH2 MLH1
41 retinitis pigmentosa 23 9.6 RPS3A PYDC1 H3-2
42 juvenile polyposis syndrome 9.6 MSH6 MSH2 MLH1
43 skin benign neoplasm 9.6 MSH6 MSH2 MLH1
44 neurofibromatosis, type i 9.6 MSH6 MSH2 MLH1
45 neurofibromatosis 9.6 MSH6 MSH2 MLH1
46 skin squamous cell carcinoma 9.6 MSH6 MSH2 MLH1
47 endometrial hyperplasia 9.6 MSH6 MSH2 MLH1
48 gastrointestinal system benign neoplasm 9.6 MSH6 MSH2 MLH1
49 hereditary breast ovarian cancer syndrome 9.5 MSH6 MSH2 MLH1
50 rectum cancer 9.5 MSH6 MSH2 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

MGI Mouse Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.02 HCK MLH1 MSH2 MSH3 MSH6

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

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 10.79 MSH6 MSH2 MLH1
6 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 MutSbeta complex GO:0032302 9.16 MSH3 MSH2
3 MutSalpha complex GO:0032301 9.13 MSH6 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 9.84 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 isotype switching GO:0045190 9.54 MSH6 MSH2 MLH1
7 determination of adult lifespan GO:0008340 9.52 MSH6 MSH2
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 14)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10 TRIT1 MSH6 MSH3 MSH2 MLH1 HCK
2 enzyme binding GO:0019899 9.81 MSH6 MSH3 MSH2 MLH1
3 single-stranded DNA binding GO:0003697 9.65 MSH3 MSH2 MLH1
4 DNA-dependent ATPase activity GO:0008094 9.61 MSH6 MSH3 MSH2
5 ADP binding GO:0043531 9.54 MSH6 MSH2
6 four-way junction DNA binding GO:0000400 9.49 MSH6 MSH2
7 MutLalpha complex binding GO:0032405 9.46 MSH6 MSH2
8 oxidized purine DNA binding GO:0032357 9.43 MSH6 MSH3 MSH2
9 dinucleotide insertion or deletion binding GO:0032139 9.4 MSH3 MSH2
10 dinucleotide repeat insertion binding GO:0032181 9.37 MSH3 MSH2
11 single guanine insertion binding GO:0032142 9.33 MSH6 MSH3 MSH2
12 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
13 mismatched DNA binding GO:0030983 9.26 MSH6 MSH3 MSH2 MLH1
14 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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