MRD1
MCID: ATS383
MIFTS: 15

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

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

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 1:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 1 12 15
Mental Retardation, Autosomal Dominant 1 73
Mrd1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070031
UMLS 73 C1969562

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of MBD5 on chromosome 2q23.1.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 1, also known as mental retardation, autosomal dominant 1, is related to hepatocellular carcinoma and autosomal dominant non-syndromic intellectual disability. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 1 is MBD5 (Methyl-CpG Binding Domain Protein 5). Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.95 EXOSC8 SIN3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.95 SIN3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.95 EXOSC8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.95 EXOSC8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.95 EXOSC8 SIN3A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.95 EXOSC8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.95 EXOSC8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.95 SIN3A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.95 EXOSC8 SIN3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.95 SIN3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.95 SIN3A

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

ClinVar genetic disease variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1:

6 (show top 50) (show all 301)
# Gene Variation Type Significance SNP ID Assembly Location
1 MBD5 nsv513766 deletion Pathogenic
2 MBD5 MBD5, THR157GLNFSTER4 undetermined variant Pathogenic
3 MBD5 NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs) deletion Pathogenic rs398122412 GRCh37 Chromosome 2, 149220187: 149220187
4 MBD5 NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs) deletion Pathogenic rs398122412 GRCh38 Chromosome 2, 148462618: 148462618
5 MBD5 NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs114314967 GRCh37 Chromosome 2, 149227542: 149227542
6 MBD5 NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs114314967 GRCh38 Chromosome 2, 148469973: 148469973
7 MBD5 NM_018328.4(MBD5): c.2605G> A (p.Val869Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116207524 GRCh37 Chromosome 2, 149240765: 149240765
8 MBD5 NM_018328.4(MBD5): c.2605G> A (p.Val869Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116207524 GRCh38 Chromosome 2, 148483196: 148483196
9 MBD5 NM_018328.4(MBD5): c.297A> G (p.Leu99=) single nucleotide variant Benign rs77213206 GRCh37 Chromosome 2, 149221388: 149221388
10 MBD5 NM_018328.4(MBD5): c.297A> G (p.Leu99=) single nucleotide variant Benign rs77213206 GRCh38 Chromosome 2, 148463819: 148463819
11 MBD5 NM_018328.4(MBD5): c.1368G> T (p.Ser456=) single nucleotide variant Conflicting interpretations of pathogenicity rs146020786 GRCh37 Chromosome 2, 149226880: 149226880
12 MBD5 NM_018328.4(MBD5): c.1368G> T (p.Ser456=) single nucleotide variant Conflicting interpretations of pathogenicity rs146020786 GRCh38 Chromosome 2, 148469311: 148469311
13 MBD5 NM_018328.4(MBD5): c.1596A> G (p.Val532=) single nucleotide variant Benign/Likely benign rs114611333 GRCh37 Chromosome 2, 149227108: 149227108
14 MBD5 NM_018328.4(MBD5): c.1596A> G (p.Val532=) single nucleotide variant Benign/Likely benign rs114611333 GRCh38 Chromosome 2, 148469539: 148469539
15 MBD5 NM_018328.4(MBD5): c.3243T> A (p.Gly1081=) single nucleotide variant Benign rs115816749 GRCh37 Chromosome 2, 149247143: 149247143
16 MBD5 NM_018328.4(MBD5): c.3243T> A (p.Gly1081=) single nucleotide variant Benign rs115816749 GRCh38 Chromosome 2, 148489574: 148489574
17 MBD5 NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val) single nucleotide variant Benign/Likely benign rs115940994 GRCh37 Chromosome 2, 149247210: 149247210
18 MBD5 NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val) single nucleotide variant Benign/Likely benign rs115940994 GRCh38 Chromosome 2, 148489641: 148489641
19 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh37 Chromosome 2, 149247394: 149247394
20 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh38 Chromosome 2, 148489825: 148489825
21 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh37 Chromosome 2, 149227082: 149227082
22 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh38 Chromosome 2, 148469513: 148469513
23 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh37 Chromosome 2, 149227826: 149227826
24 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh38 Chromosome 2, 148470257: 148470257
25 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh37 Chromosome 2, 149247179: 149247179
26 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh38 Chromosome 2, 148489610: 148489610
27 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic NCBI36 Chromosome 2, 148447496: 149377297
28 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh37 Chromosome 2, 148731026: 149660827
29 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh38 Chromosome 2, 147973457: 148903258
30 Pathogenic NC_000002.10: g.146798229_150310317del3512089 deletion 0 rsRCV000162198 Chromosome 2, 146798229:150310317 183384
31 Pathogenic NC_000002.10: g.146798229_150310317del3512089 deletion 0 rsRCV000162198 Chromosome 2, 146798229:150310317 183384
32 MBD5; ORC4 NC_000002.12 deletion Pathogenic NCBI36 Chromosome 2, 148432391: 148737275
33 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh37 Chromosome 2, 148715921: 149020805
34 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 147958352: 148263236
35 Pathogenic chr17 deletion 0 rsRCV000162200 183386
36 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh37 Chromosome 2, 149241000: 149241000
37 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh38 Chromosome 2, 148483431: 148483431
38 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh37 Chromosome 2, 149243509: 149243509
39 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh38 Chromosome 2, 148485940: 148485940
40 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh37 Chromosome 2, 149243368: 149243368
41 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh38 Chromosome 2, 148485799: 148485799
42 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh37 Chromosome 2, 149216396: 149216396
43 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh38 Chromosome 2, 148458827: 148458827
44 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh37 Chromosome 2, 149221431: 149221438
45 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh38 Chromosome 2, 148463862: 148463869
46 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh37 Chromosome 2, 149221327: 149221327
47 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh38 Chromosome 2, 148463758: 148463758
48 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh37 Chromosome 2, 149227791: 149227791
49 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh38 Chromosome 2, 148470222: 148470222
50 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh37 Chromosome 2, 149226308: 149226308

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 1.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 1

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 8.62 EXOSC8 UTP4

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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