MRD1
MCID: ATS383
MIFTS: 37

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 71
Mrd1 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070031
UMLS 71 C1969562

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 1

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 1, also known as mental retardation, autosomal dominant 1, is related to mbd5 haploinsufficiency and helix syndrome. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 1 is MBD5 (Methyl-CpG Binding Domain Protein 5), and among its related pathways/superpathways are Gene Expression and rRNA processing in the nucleus and cytosol. Affiliated tissues include thyroid, eye and bone marrow, and related phenotypes are Decreased vesicular stomatitis virus (VSV) infection and Decreased vesicular stomatitis virus (VSV) infection

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.

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-1 9.35 DCAF13 NOP58 PWP2
2 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-2 9.35 DCAF13 PWP2
3 Decreased human parainfluenza virus type 3 (HPIV3) infection GR00241-A-4 9.16 DCAF13 PWP2
4 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.32 NOP58

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

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

40
Thyroid, Eye, Bone Marrow, Skin, Bone, Myeloid, Liver

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

(show top 50) (show all 205)
# Title Authors PMID Year
1
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
2
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 6
22726846 2012
3
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. 6
17847001 2007
4
Postoperative Clinical Outcomes Using Standard Variables Following Levator-Mullerectomy Advancement Blepharoptosis Surgery. 61
33606440 2021
5
External levator resection for involutional ptosis: is intraoperative suture adjustment necessary for good outcomes? 61
32048532 2021
6
Efficacy and predictability of Muller's muscle-conjunctival resection with different tarsectomy lengths for unilateral blepharoptosis treatment. 61
33579223 2021
7
Revisiting Anchor Epicanthoplasty in Mild to Moderate Asian Epicanthal Folds: A Clinicopathological Study. 61
32767037 2021
8
Augmented fascia temporalis sling for paralytic ectropion of the lower lid. 61
33607927 2021
9
Effect of brimonidine tartrate 0.15% on scotopic pupil size and upper eyelid position: controlled trial. 61
32518394 2021
10
New insight into the physiologic function of Müller's muscle. 61
33130032 2021
11
The Function-Preserving Frontalis Orbicularis Oculi Muscle Flap for the Correction of Severe Blepharoptosis With Poor Levator Function. 61
33400770 2021
12
Effect of topical Phenylephrine on the upper eyelid crease position. 61
32378788 2020
13
The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family. 61
33374027 2020
14
Current Upper Blepharoplasty and Ptosis Management Practice Patterns Among The Aesthetic Society Members. 61
33346340 2020
15
Effect of Congenital Lower Eyelid Epiblepharon Surgery on Asymmetric Margin Reflex Distance 1. 61
33249930 2020
16
Early peripheral blast cell clearance predicts minimal residual disease status and refines disease prognosis in acute myeloid leukemia. 61
32697337 2020
17
Recurrent upper eyelid trachomatous entropion repair: long-term efficacy of a five-step approach. 61
33235346 2020
18
Outcomes of conjunctival-Müller's muscle resection surgery with and without epinephrine in local anesthetic. 61
33153357 2020
19
Postoperative Blepharoptosis After Pars Plana Vitrectomy Procedure. 61
33229954 2020
20
Surgical outcomes following Muller Muscle-Conjunctival Resection in patients with glaucoma filtering surgery. 61
31809630 2020
21
Single-triangle versus Fox pentagon frontalis suspension for unilateral severe congenital ptosis correction. 61
33045376 2020
22
Müller Muscle Conjunctiva Resection for Revision of Residual Ptosis After External Levator Advancement Surgery. 61
32022751 2020
23
Outcomes After Müller Muscle Conjunctival Resection Versus External Levator Advancement in Severe Involutional Blepharoptosis. 61
32387434 2020
24
Prevalence and risk factors of childhood blepharoptosis in Koreans: the Korea National Health and Nutrition Examination Survey. 61
31772383 2020
25
Time-dependent Response of Eyelid Height with a Single Drop of 2.5% Phenylephrine in Korean Ptotic Patients. 61
32783424 2020
26
Evaluation of intraoperative lagophthalmos formula for levator resection in congenital ptosis in Egyptian patients. 61
32806945 2020
27
Surgical management of ptosis in chronic progressive external ophthalmoplegia. 61
32847396 2020
28
Natural history of inflammatory and non-inflammatory dry eye in thyroid eye disease. 61
32847459 2020
29
[Triamcinolone acetonide deep fornix injection for the treatment of upper eyelid retraction in patients with thyroid-associated ophthalmopathy]. 61
32842335 2020
30
Increased rate of ptosis following glaucoma drainage device placement and other anterior segment surgery: a prospective analysis. 61
32103333 2020
31
Adult T-cell acute lymphoblastic leukemias with IL7R pathway mutations are slow-responders who do not benefit from allogeneic stem-cell transplantation. 61
31992840 2020
32
Lagophthalmos after congenital ptosis surgery: comparison between maximal levator resection and frontalis sling operation. 61
32651544 2020
33
Outcomes of Early Correction of Congenital Myogenic Ptosis Using Transconjunctival Levator Plication. 61
32801437 2020
34
Long-Term Outcomes of Upper Eyelid Loading with Platinum Segment Chains for Lagophthalmos: An Adjustable Approach. 61
31765627 2020
35
The Effect of Early Postoperative Swelling on Change in Upper Eyelid Position After External Levator Resection and Blepharoplasty. 61
32501883 2020
36
Changes in Lower Eyelid Position and Shape After Inferior Orbital Wall Reconstruction. 61
32028368 2020
37
Corticosteroid eyedrops induced blepharoptosis and atrophy of levator muscle. 61
32060728 2020
38
Postoperative Blepharoptosis After Modern Phacoemulsification Procedure. 61
31926884 2020
39
The Effect of a Ptosis Procedure Compared to an Upper Blepharoplasty on Dry Eye Syndrome. 61
31770512 2020
40
Contralateral Mueller's muscle-conjunctiva resection: a therapeutic option in thyroid eye disease patients with unilateral eyelid retraction. 61
31162982 2020
41
Mild to moderate blepharoptosis correction: Outcomes of levator aponeurosis posterior layer plication. 61
32195929 2020
42
Course of upper eyelid retraction in thyroid eye disease. 61
31079052 2020
43
A modified Fox pentagon technique performed using a polytetrafluoroethylene sling in frontalis suspension to treat blepharophimosis syndrome. 61
32008456 2020
44
Eyebrow Elevation as a Prognostic Factor for Success of Frontalis Suspension in Severe Congenital Ptosis. 61
32546941 2020
45
Conjunctival Sparing Ptosis Correction by White-Line Advancement Technique. 61
32733700 2020
46
Comparison between hyaluronic acid filler and botulinum toxin type A in the treatment of thyroid upper eyelid retraction. 61
33447731 2020
47
Surgical Predictors of Reduced Marginal Reflex Distance After Upper Blepharoplasty. 61
30908469 2019
48
A Novel Approach for Automated Eyelid Measurements in Blepharoptosis Using Digital Image Analysis. 61
31148484 2019
49
The effect of eyebrow stenting on the measurement of levator excursion in normal and ptotic eyelids. 61
30411993 2019
50
Postoperative levator function change in patients with unilateral myogenic versus aponeurotic blepharoptosis. 61
31272877 2019

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 321)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MBD5 nsv513766 Deletion Pathogenic 921
2 MBD5 MBD5, THR157GLNFSTER4 Variation Pathogenic 60718
3 MBD5 NM_018328.4(MBD5):c.150del (p.Thr52fs) Deletion Pathogenic 88896 rs398122412 2:149220186-149220186 2:148462617-148462617
4 MBD5 NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) SNV Pathogenic 267726 rs886041003 2:149225952-149225952 2:148468383-148468383
5 MBD5 NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs) Deletion Pathogenic 406455 rs1060501153 2:149227808-149227811 2:148470239-148470242
6 MBD5 NM_018328.4(MBD5):c.4455del (p.Lys1486fs) Deletion Pathogenic 406452 rs1060501151 2:149270475-149270475 2:148512906-148512906
7 MBD5 NM_018328.5:c.728del Deletion Pathogenic 812175 2:149226238-149226238 2:148468669-148468669
8 MBD5 NC_000002.12:g.(?_148458759)_(148512941_?)del Deletion Pathogenic 830448 2:149216328-149270510
9 MBD5 NC_000002.12:g.(?_148458739)_(148463939_?)del Deletion Pathogenic 831961 2:149216308-149221508
10 MBD5 NC_000002.12:g.(?_148458739)_(148512961_?)del Deletion Pathogenic 832942 2:149216308-149270530
11 MBD5 NM_018328.5(MBD5):c.698del (p.Gly233fs) Deletion Pathogenic 841779 2:149226209-149226209 2:148468640-148468640
12 MBD5 NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter) SNV Pathogenic 561057 rs1559099927 2:149248135-149248135 2:148490566-148490566
13 MBD5 NM_018328.4(MBD5):c.1000del (p.Gln334fs) Deletion Pathogenic 665197 rs1574459612 2:149226509-149226509 2:148468940-148468940
14 MBD5 NM_018328.4(MBD5):c.2633del (p.Pro878fs) Deletion Pathogenic 468775 rs1553519853 2:149240791-149240791 2:148483222-148483222
15 MBD5 NM_018328.4(MBD5):c.379del (p.Ser127fs) Deletion Pathogenic 536672 rs1553517984 2:149221470-149221470 2:148463901-148463901
16 MBD5 NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) Deletion Pathogenic 948874 2:149226044-149226056 2:148468475-148468487
17 MBD5 NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) SNV Pathogenic 951543 2:149247630-149247630 2:148490061-148490061
18 MBD5 NM_001378120.1(MBD5):c.947del (p.Asn316fs) Deletion Pathogenic 966643 2:149226458-149226458 2:148468889-148468889
19 MBD5 NM_018328.4(MBD5):c.2321del (p.Pro774fs) Deletion Pathogenic 536673 rs1553518752 2:149227832-149227832 2:148470263-148470263
20 MBD5 NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs) Deletion Pathogenic 576080 rs1559094754 2:149240746-149240827 2:148483177-148483258
21 MBD5 NM_001378120.1(MBD5):c.217-1G>C SNV Pathogenic 973733 2:149221307-149221307 2:148463738-148463738
22 MBD5 NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs) Microsatellite Pathogenic 206110 rs796052719 2:149226399-149226400 2:148468830-148468831
23 MBD5 NM_018328.4(MBD5):c.1025dup (p.Ser343fs) Duplication Pathogenic 536668 rs1553518511 2:149226535-149226536 2:148468966-148468967
24 MBD5 NM_018328.4(MBD5):c.340_347del (p.Lys114fs) Deletion Pathogenic 198890 rs794727928 2:149221428-149221435 2:148463859-148463866
25 MBD5 NM_018328.4(MBD5):c.397+1G>A SNV Pathogenic 536667 rs1553517991 2:149221489-149221489 2:148463920-148463920
26 EPC2 NC_000002.10:g.148447496_149377297del Deletion Pathogenic 183383 2:148731026-149660827 2:147973457-148903258
27 MBD5 NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del Deletion Pathogenic 183385 2:148715921-149020805 2:147958352-148263236
28 MBD5 NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) SNV Likely pathogenic 931316 2:149226342-149226342 2:148468773-148468773
29 MBD5 NM_001378120.1(MBD5):c.1119del (p.Val374fs) Deletion Likely pathogenic 977793 2:149226631-149226631 2:148469062-148469062
30 MBD5 NM_018328.4(MBD5):c.114-2A>T SNV Likely pathogenic 658842 rs1574451881 2:149220149-149220149 2:148462580-148462580
31 MBD5 NM_001378120.1(MBD5):c.1A>G (p.Met1Val) SNV Likely pathogenic 813806 2:149216328-149216328 2:148458759-148458759
32 MBD5 NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) SNV Conflicting interpretations of pathogenicity 279846 rs199626531 2:149247153-149247153 2:148489584-148489584
33 MBD5 NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) SNV Conflicting interpretations of pathogenicity 206103 rs752035001 2:149247439-149247439 2:148489870-148489870
34 MBD5 NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) SNV Conflicting interpretations of pathogenicity 211440 rs543329958 2:149248058-149248058 2:148490489-148490489
35 MBD5 NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) SNV Conflicting interpretations of pathogenicity 198891 rs34995577 2:149221327-149221327 2:148463758-148463758
36 MBD5 NM_018328.4(MBD5):c.1382G>A (p.Arg461His) SNV Conflicting interpretations of pathogenicity 206112 rs139964770 2:149226894-149226894 2:148469325-148469325
37 MBD5 NM_018328.4(MBD5):c.2502A>C (p.Gln834His) SNV Uncertain significance 389768 rs147272790 2:149228014-149228014 2:148470445-148470445
38 MBD5 NM_018328.4(MBD5):c.4033G>A (p.Val1345Ile) SNV Uncertain significance 206055 rs376249586 2:149247933-149247933 2:148490364-148490364
39 MBD5 NM_018328.4(MBD5):c.2213A>G (p.His738Arg) SNV Uncertain significance 512606 rs528789050 2:149227725-149227725 2:148470156-148470156
40 MBD5 NM_018328.4(MBD5):c.1591A>G (p.Asn531Asp) SNV Uncertain significance 206073 rs757922781 2:149227103-149227103 2:148469534-148469534
41 MBD5 NM_018328.4(MBD5):c.2870C>A (p.Thr957Asn) SNV Uncertain significance 509817 rs774999439 2:149243335-149243335 2:148485766-148485766
42 MBD5 NM_018328.4(MBD5):c.2840G>A (p.Gly947Glu) SNV Uncertain significance 193727 rs114359726 2:149241000-149241000 2:148483431-148483431
43 MBD5 NM_018328.4(MBD5):c.980T>C (p.Met327Thr) SNV Uncertain significance 199153 rs776228346 2:149226492-149226492 2:148468923-148468923
44 MBD5 NM_018328.4(MBD5):c.2903C>T (p.Ser968Leu) SNV Uncertain significance 193912 rs200985982 2:149243368-149243368 2:148485799-148485799
45 MBD5 NM_018328.4(MBD5):c.1406A>G (p.His469Arg) SNV Uncertain significance 199150 rs766571687 2:149226918-149226918 2:148469349-148469349
46 MBD5 NM_018328.4(MBD5):c.2311A>G (p.Ser771Gly) SNV Uncertain significance 515645 rs777686665 2:149227823-149227823 2:148470254-148470254
47 MBD5 NM_001378120.1(MBD5):c.2612T>C (p.Val871Ala) SNV Uncertain significance 982999 2:149240772-149240772 2:148483203-148483203
48 MBD5 NM_001378120.1(MBD5):c.4397A>G (p.Asn1466Ser) SNV Uncertain significance 846073 2:149247598-149247598 2:148490029-148490029
49 MBD5 NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp) SNV Uncertain significance 930565 2:149247534-149247534 2:148489965-148489965
50 MBD5 NM_018328.4(MBD5):c.3494G>A (p.Arg1165Gln) SNV Uncertain significance 167265 rs727503999 2:149247394-149247394 2:148489825-148489825

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.29 UTP4 UTP20 RRP7A PWP2 PDCD11 NOP58
2
Show member pathways
12.13 UTP4 UTP20 RRP7A PWP2 PDCD11 NOP58
3 11.47 UTP4 RRP7A PWP2 NOP58 NOL6 MPHOSPH10

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 1

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 UTP4 UTP20 RBM19 PWP2 PDCD11 NOP58
2 nucleoplasm GO:0005654 10 UTP4 UTP20 RRP7A RBM19 PWP2 PDCD11
3 chromosome GO:0005694 9.85 UTP4 RBM19 NOL6 MPHOSPH10 MBD5
4 nucleolus GO:0005730 9.7 UTP4 UTP20 RBM19 PWP2 PDCD11 NOP58
5 90S preribosome GO:0030686 9.43 UTP4 UTP20
6 small nucleolar ribonucleoprotein complex GO:0005732 9.37 NOP58 MPHOSPH10
7 UTP-C complex GO:0034456 9.32 RRP7A NOL6
8 CURI complex GO:0032545 9.26 RRP7A NOL6
9 small-subunit processome GO:0032040 9.23 UTP4 UTP20 PWP2 PDCD11 NOP58 NOL6

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 ribosomal small subunit assembly GO:0000028 9.4 RRP7A PWP2
2 rRNA processing GO:0006364 9.4 UTP4 UTP20 RRP7A RBFA PWP2 PDCD11
3 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000447 9.37 UTP20 ABT1
4 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.33 UTP4 PWP2 DCAF13
5 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000480 9.32 UTP20 ABT1
6 endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000472 9.26 UTP20 ABT1
7 ribosome biogenesis GO:0042254 9.26 UTP4 NOP58 MPHOSPH10 DCAF13

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

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.44 UTP4 UTP20 RRP7A RBM19 PWP2 PDCD11

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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