Autosomal Dominant Non-Syndromic Intellectual Disability 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MRD1 MCID: ATS383 MIFTS: 15	Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1) Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070031

UMLS ⁷³ C1969562

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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)

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Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	hepatocellular carcinoma	10.1
2	autosomal dominant non-syndromic intellectual disability	9.9	EXOSC8 MBD5

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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

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

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

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Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Genes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	400	Pathogenic ⁶	17847001 27786435 23708187 (more) 22726846
2	EXOSC8	Exosome Component 8	Protein Coding	16.2	DISEASES inferred ¹⁵
3	DNAI2	Dynein Axonemal Intermediate Chain 2	Protein Coding	15.91	DISEASES inferred ¹⁵
4	UTP4	UTP4, Small Subunit Processome Component	Protein Coding	15.77	DISEASES inferred ¹⁵
5	ST5	Suppression Of Tumorigenicity 5	Protein Coding	15.65	DISEASES inferred ¹⁵
6	SLC47A1	Solute Carrier Family 47 Member 1	Protein Coding	15.36	DISEASES inferred ¹⁵
7	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	15.28	DISEASES inferred ¹⁵

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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

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Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

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Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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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

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Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

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²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

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

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

Classifications:

External Ids:

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Diseases in the Non-Syndromic Intellectual Disability family:

Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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:

Drugs & Therapeutics 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

Genes for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Genes related to Autosomal Dominant Non-Syndromic Intellectual Disability 1 (1 elite genes):

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

Expression 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:

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1