MCID: ATS383
MIFTS: 25

Autosomal Dominant Non-Syndromic Intellectual Disability 1

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 74
Mrd1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070031
UMLS 74 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). 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)

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:

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

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

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

(show all 42)
# 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 Botulinum Toxins Phase 4
4 Neuromuscular Agents Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Botulinum Toxins, Type A Phase 4
7 Peripheral Nervous System Agents Phase 4
8 abobotulinumtoxinA Phase 4
9 Pharmaceutical Solutions Phase 4,Phase 2
10 Cholinergic Agents Phase 4
11
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
12
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
13 Adjuvants, Immunologic Phase 2, Phase 3
14 Immunologic Factors Phase 2, Phase 3,Phase 1
15
Blinatumomab Approved, Investigational Phase 2 853426-35-4
16
Zoledronic Acid Approved Phase 2 118072-93-8 68740
17
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
19 Immunoglobulins Phase 2,Phase 1
20 Antibodies, Bispecific Phase 2
21 Antibodies Phase 2,Phase 1
22 Diphosphonates Phase 2
23 Calciferol Phase 2
24 Vitamins Phase 2
25 Trace Elements Phase 2
26 Bone Density Conservation Agents Phase 2
27 Nutrients Phase 2
28 Micronutrients Phase 2
29 Calcium, Dietary Phase 2
30
Cytarabine Approved, Experimental, Investigational Phase 1 147-94-4, 65-46-3 6253
31
Daunorubicin Approved Phase 1 20830-81-3 30323
32 Antineoplastic Agents, Immunological Phase 1
33 Immunosuppressive Agents Phase 1
34 Topoisomerase Inhibitors Phase 1
35 Anti-Infective Agents Phase 1
36 Antimetabolites, Antineoplastic Phase 1
37 Antiviral Agents Phase 1
38 Antibodies, Monoclonal Phase 1
39 Antimetabolites Phase 1
40 Anti-Bacterial Agents Phase 1
41 Antibiotics, Antitubercular Phase 1
42 Gemtuzumab Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Completed 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 Blinatumomab in High-risk B-cell Precursor Acute Lymphoblastic Leukemia Recruiting NCT03709719 Phase 2 Blinatumomab Injection
4 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
5 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
6 CPX-351 and Gemtuzumab Ozogamicin in Treating Patients With Relapsed Acute Myeloid Leukemia Not yet recruiting NCT03904251 Phase 1 Gemtuzumab Ozogamicin;Liposome-encapsulated Daunorubicin-Cytarabine
7 Levator Resection with3 Point Fixation Versus 2 Point Fixation Tucking for Congenital Ptosis Completed NCT03240107 Not Applicable
8 Preoperative and Intraoperative Factors Related to the Development of Ptosis After Retinal Surgery Completed NCT01752478
9 NMES to Improve Eyelid Functions in Cranial Nerve (CN) III and VII Palsy Recruiting NCT03239418 Not Applicable
10 Risk of Dry Eye Post Different Surgeries for Blepharoptosis Repair Recruiting NCT02501187 Not Applicable
11 Comparison Between Different Surgical Approaches for the Treatment of INVOLUTIONAL PTOSIS Not yet recruiting NCT03373812 Not Applicable

Search 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

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

42
Bone, Eye, Breast, Bone Marrow, Myeloid, B Cells

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

Articles related to Autosomal Dominant Non-Syndromic Intellectual Disability 1:

# Title Authors Year
1
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013
2
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. ( 22726846 )
2012
3
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. ( 17847001 )
2007

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 305)
# 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.1837A> G (p.Asn613Asp) single nucleotide variant Uncertain significance rs398124341 GRCh37 Chromosome 2, 149227349: 149227349
6 MBD5 NM_018328.4(MBD5): c.1837A> G (p.Asn613Asp) single nucleotide variant Uncertain significance rs398124341 GRCh38 Chromosome 2, 148469780: 148469780
7 MBD5 NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs114314967 GRCh37 Chromosome 2, 149227542: 149227542
8 MBD5 NM_018328.4(MBD5): c.2030G> A (p.Ser677Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs114314967 GRCh38 Chromosome 2, 148469973: 148469973
9 MBD5 NM_018328.4(MBD5): c.2605G> A (p.Val869Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116207524 GRCh37 Chromosome 2, 149240765: 149240765
10 MBD5 NM_018328.4(MBD5): c.2605G> A (p.Val869Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs116207524 GRCh38 Chromosome 2, 148483196: 148483196
11 MBD5 NM_018328.4(MBD5): c.297A> G (p.Leu99=) single nucleotide variant Benign rs77213206 GRCh37 Chromosome 2, 149221388: 149221388
12 MBD5 NM_018328.4(MBD5): c.297A> G (p.Leu99=) single nucleotide variant Benign rs77213206 GRCh38 Chromosome 2, 148463819: 148463819
13 MBD5 NM_018328.4(MBD5): c.1368G> T (p.Ser456=) single nucleotide variant Conflicting interpretations of pathogenicity rs146020786 GRCh37 Chromosome 2, 149226880: 149226880
14 MBD5 NM_018328.4(MBD5): c.1368G> T (p.Ser456=) single nucleotide variant Conflicting interpretations of pathogenicity rs146020786 GRCh38 Chromosome 2, 148469311: 148469311
15 MBD5 NM_018328.4(MBD5): c.1596A> G (p.Val532=) single nucleotide variant Benign/Likely benign rs114611333 GRCh37 Chromosome 2, 149227108: 149227108
16 MBD5 NM_018328.4(MBD5): c.1596A> G (p.Val532=) single nucleotide variant Benign/Likely benign rs114611333 GRCh38 Chromosome 2, 148469539: 148469539
17 MBD5 NM_018328.4(MBD5): c.3243T> A (p.Gly1081=) single nucleotide variant Benign/Likely benign rs115816749 GRCh37 Chromosome 2, 149247143: 149247143
18 MBD5 NM_018328.4(MBD5): c.3243T> A (p.Gly1081=) single nucleotide variant Benign/Likely benign rs115816749 GRCh38 Chromosome 2, 148489574: 148489574
19 MBD5 NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val) single nucleotide variant Benign/Likely benign rs115940994 GRCh37 Chromosome 2, 149247210: 149247210
20 MBD5 NM_018328.4(MBD5): c.3310A> G (p.Ile1104Val) single nucleotide variant Benign/Likely benign rs115940994 GRCh38 Chromosome 2, 148489641: 148489641
21 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh37 Chromosome 2, 149247394: 149247394
22 MBD5 NM_018328.4(MBD5): c.3494G> A (p.Arg1165Gln) single nucleotide variant Uncertain significance rs727503999 GRCh38 Chromosome 2, 148489825: 148489825
23 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh37 Chromosome 2, 149227082: 149227082
24 MBD5 NM_018328.4(MBD5): c.1570C> T (p.Pro524Ser) single nucleotide variant Uncertain significance rs727503998 GRCh38 Chromosome 2, 148469513: 148469513
25 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh37 Chromosome 2, 149227826: 149227826
26 MBD5 NM_018328.4(MBD5): c.2314A> C (p.Asn772His) single nucleotide variant Conflicting interpretations of pathogenicity rs200151142 GRCh38 Chromosome 2, 148470257: 148470257
27 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh37 Chromosome 2, 149247179: 149247179
28 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh38 Chromosome 2, 148489610: 148489610
29 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic NCBI36 Chromosome 2, 148447496: 149377297
30 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh37 Chromosome 2, 148731026: 149660827
31 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic GRCh38 Chromosome 2, 147973457: 148903258
32 NC_000002.10: g.146798229_150310317del3512089 deletion Pathogenic NCBI36 Chromosome 2, 146798229: 150310317
33 MBD5; ORC4 NC_000002.12 deletion Pathogenic NCBI36 Chromosome 2, 148432391: 148737275
34 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh37 Chromosome 2, 148715921: 149020805
35 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 147958352: 148263236
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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