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MRD1
MCID: ATS383
MIFTS: 23

Autosomal Dominant Non-Syndromic Intellectual Disability 1 (MRD1)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Drugs
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Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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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 74
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 74 C1969562
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Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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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). The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and breast, and 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

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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 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 10.2
2 autosomal dominant non-syndromic intellectual disability 9.8 EXOSC8 MBD5

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

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

27 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.98 EXOSC8 SIN3A
2 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.98 SIN3A
3 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.98 SIN3A
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.98 EXOSC8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.98 EXOSC8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.98 EXOSC8 SIN3A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.98 EXOSC8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.98 EXOSC8
9 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.98 SIN3A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.98 EXOSC8 SIN3A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.98 SIN3A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.98 SIN3A
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Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Drugs for Autosomal Dominant Non-Syndromic Intellectual Disability 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2 Neurotransmitter Agents Phase 4
3 Peripheral Nervous System Agents Phase 4
4 Botulinum Toxins, Type A Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Pharmaceutical Solutions Phase 4,Phase 2
7 Neuromuscular Agents Phase 4
8 abobotulinumtoxinA Phase 4
9 Cholinergic Agents Phase 4
10 Botulinum Toxins Phase 4
11
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
12
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
13 Immunologic Factors Phase 2, Phase 3
14 Adjuvants, Immunologic Phase 2, Phase 3
15
Zoledronic Acid Approved Phase 2 118072-93-8 68740
16
Blinatumomab Approved, Investigational Phase 2 853426-35-4
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
18
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
19 Calcium, Dietary Phase 2
20 Vitamins Phase 2
21 Bone Density Conservation Agents Phase 2
22 Micronutrients Phase 2
23 Diphosphonates Phase 2
24 Trace Elements Phase 2
25 Calciferol Phase 2
26 Nutrients Phase 2
27 Antibodies Phase 2
28 Immunoglobulins Phase 2
29 Antibodies, Bispecific Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Active, not recruiting NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
2 The Effect of G-CSF on MRD After Induction Therapy in Newly Diagnosed AML Recruiting NCT03665480 Phase 2, Phase 3 G-SCF
3 Zoledronic Acid in the Treatment of Breast Cancer With Minimal Residual Disease in the Bone Marrow Terminated NCT00172068 Phase 2 Zoledronic acid + Calcium/Vitamin D
4 Blinatumomab in High-risk B-cell Precursor Acute Lymphoblastic Leukemia Recruiting NCT03709719 Phase 2 Blinatumomab Injection
5 A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa Recruiting NCT03019406 Phase 2 avalglucosidase alfa GZ402666;alglucosidase alfa GZ419829
6 Levator Resection with3 Point Fixation Versus 2 Point Fixation Tucking for Congenital Ptosis Completed NCT03240107 Not Applicable
7 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Not yet recruiting NCT03373812 Not Applicable
8 NMES to Improve Eyelid Functions in Cranial Nerve (CN) III and VII Palsy Recruiting NCT03239418 Not Applicable
9 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
10 Risk of Dry Eye Post Different Surgeries for Blepharoptosis Repair Recruiting NCT02501187 Not Applicable

Search 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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MalaCards organs/tissues related to Autosomal Dominant Non-Syndromic Intellectual Disability 1:

42
Bone, Eye, Breast, Bone Marrow, B Cells
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Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

6 (show top 50) (show all 299)
# Gene Variation Type Significance SNP ID Assembly Location
1 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh37 Chromosome 2, 149247394: 149247394
2 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh38 Chromosome 2, 148489825: 148489825
3 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh37 Chromosome 2, 149227082: 149227082
4 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh38 Chromosome 2, 148469513: 148469513
5 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh37 Chromosome 2, 149227826: 149227826
6 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh38 Chromosome 2, 148470257: 148470257
7 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh38 Chromosome 2, 148489610: 148489610
8 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh37 Chromosome 2, 149247179: 149247179
9 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic NCBI36 Chromosome 2, 148447496: 149377297
10 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh37 Chromosome 2, 148731026: 149660827
11 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh38 Chromosome 2, 147973457: 148903258
12 NC_000002.10: g.146798229_150310317del3512089 deletion Pathogenic NCBI36 Chromosome 2, 146798229: 150310317
13 MBD5; ORC4 NC_000002.12 deletion Pathogenic NCBI36 Chromosome 2, 148432391: 148737275
14 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh37 Chromosome 2, 148715921: 149020805
15 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 147958352: 148263236
16 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh37 Chromosome 2, 149241000: 149241000
17 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh38 Chromosome 2, 148483431: 148483431
18 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh37 Chromosome 2, 149243509: 149243509
19 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh38 Chromosome 2, 148485940: 148485940
20 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh37 Chromosome 2, 149243368: 149243368
21 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh38 Chromosome 2, 148485799: 148485799
22 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh37 Chromosome 2, 149216396: 149216396
23 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh38 Chromosome 2, 148458827: 148458827
24 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh37 Chromosome 2, 149221431: 149221438
25 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh38 Chromosome 2, 148463862: 148463869
26 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh37 Chromosome 2, 149221327: 149221327
27 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh38 Chromosome 2, 148463758: 148463758
28 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh37 Chromosome 2, 149227791: 149227791
29 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh38 Chromosome 2, 148470222: 148470222
30 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh37 Chromosome 2, 149226308: 149226308
31 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh38 Chromosome 2, 148468739: 148468739
32 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh37 Chromosome 2, 149226111: 149226111
33 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh38 Chromosome 2, 148468542: 148468542
34 MBD5 NM_018328.4(MBD5): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs116413446 GRCh37 Chromosome 2, 149227150: 149227150
35 MBD5 NM_018328.4(MBD5): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs116413446 GRCh38 Chromosome 2, 148469581: 148469581
36 MBD5 NM_018328.4(MBD5): c.980T> C (p.Met327Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs776228346 GRCh37 Chromosome 2, 149226492: 149226492
37 MBD5 NM_018328.4(MBD5): c.980T> C (p.Met327Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs776228346 GRCh38 Chromosome 2, 148468923: 148468923
38 MBD5 NM_018328.4(MBD5): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs771325235 GRCh37 Chromosome 2, 149226156: 149226156
39 MBD5 NM_018328.4(MBD5): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs771325235 GRCh38 Chromosome 2, 148468587: 148468587
40 MBD5 NM_018328.4(MBD5): c.884C> G (p.Thr295Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs368339420 GRCh37 Chromosome 2, 149226396: 149226396
41 MBD5 NM_018328.4(MBD5): c.884C> G (p.Thr295Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs368339420 GRCh38 Chromosome 2, 148468827: 148468827
42 MBD5 NM_018328.4(MBD5): c.890_891delTA (p.Ile297Thrfs) deletion Pathogenic rs796052719 GRCh38 Chromosome 2, 148468833: 148468834
43 MBD5 NM_018328.4(MBD5): c.890_891delTA (p.Ile297Thrfs) deletion Pathogenic rs796052719 GRCh37 Chromosome 2, 149226402: 149226403
44 MBD5 NM_018328.4(MBD5): c.935A> T (p.Lys312Ile) single nucleotide variant Uncertain significance rs146031838 GRCh37 Chromosome 2, 149226447: 149226447
45 MBD5 NM_018328.4(MBD5): c.935A> T (p.Lys312Ile) single nucleotide variant Uncertain significance rs146031838 GRCh38 Chromosome 2, 148468878: 148468878
46 MBD5 NM_018328.4(MBD5): c.961A> G (p.Met321Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369869865 GRCh37 Chromosome 2, 149226473: 149226473
47 MBD5 NM_018328.4(MBD5): c.961A> G (p.Met321Val) single nucleotide variant Conflicting interpretations of pathogenicity rs369869865 GRCh38 Chromosome 2, 148468904: 148468904
48 MBD5 NM_018328.4(MBD5): c.1111C> G (p.Gln371Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs536900412 GRCh38 Chromosome 2, 148469054: 148469054
49 MBD5 NM_018328.4(MBD5): c.1111C> G (p.Gln371Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs536900412 GRCh37 Chromosome 2, 149226623: 149226623
50 MBD5 NM_018328.4(MBD5): c.1382G> A (p.Arg461His) single nucleotide variant Conflicting interpretations of pathogenicity rs139964770 GRCh38 Chromosome 2, 148469325: 148469325
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Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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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

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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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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