MCID: MBD001
MIFTS: 27

Mbd5 Haploinsufficiency

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Mbd5 Haploinsufficiency

MalaCards integrated aliases for Mbd5 Haploinsufficiency:

Name: Mbd5 Haploinsufficiency 24
2q23.1 Microdeletion Syndrome 24 53 59
Pseudo-Angelman Syndrome 53 59
Monosomy 2q23.1 53 59
Del(2)(q23.1) 53 59
Mbd5-Associated Neurodevelopmental Disorders 24
Mbd5 Associated Neurodevelopmental Disorder 6
Chromosome 2q23.1 Microdeletion Syndrome 53
Mand 24

Characteristics:

Orphanet epidemiological data:

59
2q23.1 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

24
Penetrance Clinical features of mbd5 haploinsufficiency are apparent in all individuals with de novo inactivation of one mbd5 allele; however, both phenotypic heterogeneity and variable expressivity are observed...

Classifications:



Summaries for Mbd5 Haploinsufficiency

NIH Rare Diseases : 53 2q23.1 microdeletion syndrome is a rare chromosome disorder.  Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and developmental delays (learn to crawl, sit or walk later than other babies). Children affected by 2q23.1 microdeletion syndrome may also have low muscle tone (hypotonia), slow weight gain, and may be shorter than family members. 2q23.1 deletion syndrome is caused by the loss of a small piece of DNA in one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our bodies. Most cases of 2q23.1 deletion syndrome are de novo, which means the deletion was not passed down from either parent. Diagnosis of 2q23.1 microdeletion syndrome may be suspected by symptoms but is confirmed by genetic testing. Treatment is based on the signs and symptoms of each person and may include seizure medication, speech therapy, behavior therapy, physical, and occupational therapy, and special education programs. 

MalaCards based summary : Mbd5 Haploinsufficiency, also known as 2q23.1 microdeletion syndrome, is related to mbd25-related intellectual disability and kleefstra syndrome. An important gene associated with Mbd5 Haploinsufficiency is MBD5 (Methyl-CpG Binding Domain Protein 5). Affiliated tissues include testes, and related phenotypes are cryptorchidism and open mouth

GeneReviews: NBK390803

Related Diseases for Mbd5 Haploinsufficiency

Diseases related to Mbd5 Haploinsufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mbd25-related intellectual disability 11.5
2 kleefstra syndrome 11.2
3 autism 10.0
4 alacrima, achalasia, and mental retardation syndrome 10.0
5 autism spectrum disorder 10.0
6 epilepsy 10.0
7 neuronitis 10.0
8 fragile x syndrome 10.0

Graphical network of the top 20 diseases related to Mbd5 Haploinsufficiency:



Diseases related to Mbd5 Haploinsufficiency

Symptoms & Phenotypes for Mbd5 Haploinsufficiency

Human phenotypes related to Mbd5 Haploinsufficiency:

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
3 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
4 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
7 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
8 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
9 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
10 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
11 paroxysmal bursts of laughter 59 32 frequent (33%) Frequent (79-30%) HP:0000749
12 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
13 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
14 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
15 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
16 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
17 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
18 macrodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001572
19 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
20 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
21 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
22 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
23 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
24 polyphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002591
25 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
26 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
27 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
28 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
29 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
30 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
31 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
32 growth delay 59 Frequent (79-30%)

Drugs & Therapeutics for Mbd5 Haploinsufficiency

Search Clinical Trials , NIH Clinical Center for Mbd5 Haploinsufficiency

Genetic Tests for Mbd5 Haploinsufficiency

Anatomical Context for Mbd5 Haploinsufficiency

MalaCards organs/tissues related to Mbd5 Haploinsufficiency:

41
Testes

Publications for Mbd5 Haploinsufficiency

Articles related to Mbd5 Haploinsufficiency:

# Title Authors Year
1
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. ( 25271084 )
2015
2
Trapping MBD5 to understand 2q23.1 microdeletion syndrome. ( 25001217 )
2014
3
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome. ( 25001218 )
2014
4
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. ( 22407754 )
2012
5
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. ( 21981781 )
2011
6
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. ( 19809484 )
2010
7
MBD5 Haploinsufficiency ( 27786435 )
1993

Variations for Mbd5 Haploinsufficiency

ClinVar genetic disease variations for Mbd5 Haploinsufficiency:

6
(show top 50) (show all 216)
# 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.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 GRCh37 Chromosome 2, 149247179: 149247179
8 MBD5 NM_018328.4(MBD5): c.3279C> T (p.Val1093=) single nucleotide variant Benign/Likely benign rs35692977 GRCh38 Chromosome 2, 148489610: 148489610
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.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh37 Chromosome 2, 149216396: 149216396
21 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh38 Chromosome 2, 148458827: 148458827
22 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh37 Chromosome 2, 149221431: 149221438
23 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh38 Chromosome 2, 148463862: 148463869
24 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh37 Chromosome 2, 149221327: 149221327
25 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh38 Chromosome 2, 148463758: 148463758
26 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh37 Chromosome 2, 149227791: 149227791
27 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh38 Chromosome 2, 148470222: 148470222
28 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh37 Chromosome 2, 149226308: 149226308
29 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh38 Chromosome 2, 148468739: 148468739
30 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh37 Chromosome 2, 149226111: 149226111
31 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh38 Chromosome 2, 148468542: 148468542
32 MBD5 NM_018328.4(MBD5): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs116413446 GRCh37 Chromosome 2, 149227150: 149227150
33 MBD5 NM_018328.4(MBD5): c.1638C> T (p.Ala546=) single nucleotide variant Benign/Likely benign rs116413446 GRCh38 Chromosome 2, 148469581: 148469581
34 MBD5 NM_018328.4(MBD5): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs771325235 GRCh37 Chromosome 2, 149226156: 149226156
35 MBD5 NM_018328.4(MBD5): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs771325235 GRCh38 Chromosome 2, 148468587: 148468587
36 MBD5 NM_018328.4(MBD5): c.890_891delTA (p.Ile297Thrfs) deletion Pathogenic rs796052719 GRCh38 Chromosome 2, 148468833: 148468834
37 MBD5 NM_018328.4(MBD5): c.890_891delTA (p.Ile297Thrfs) deletion Pathogenic rs796052719 GRCh37 Chromosome 2, 149226402: 149226403
38 MBD5 NM_018328.4(MBD5): c.935A> T (p.Lys312Ile) single nucleotide variant Uncertain significance rs146031838 GRCh37 Chromosome 2, 149226447: 149226447
39 MBD5 NM_018328.4(MBD5): c.935A> T (p.Lys312Ile) single nucleotide variant Uncertain significance rs146031838 GRCh38 Chromosome 2, 148468878: 148468878
40 MBD5 NM_018328.4(MBD5): c.1111C> G (p.Gln371Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs536900412 GRCh38 Chromosome 2, 148469054: 148469054
41 MBD5 NM_018328.4(MBD5): c.1111C> G (p.Gln371Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs536900412 GRCh37 Chromosome 2, 149226623: 149226623
42 MBD5 NM_018328.4(MBD5): c.1382G> A (p.Arg461His) single nucleotide variant Likely benign rs139964770 GRCh38 Chromosome 2, 148469325: 148469325
43 MBD5 NM_018328.4(MBD5): c.1382G> A (p.Arg461His) single nucleotide variant Likely benign rs139964770 GRCh37 Chromosome 2, 149226894: 149226894
44 MBD5 NM_018328.4(MBD5): c.1510A> G (p.Met504Val) single nucleotide variant Uncertain significance rs114251920 GRCh38 Chromosome 2, 148469453: 148469453
45 MBD5 NM_018328.4(MBD5): c.1510A> G (p.Met504Val) single nucleotide variant Uncertain significance rs114251920 GRCh37 Chromosome 2, 149227022: 149227022
46 MBD5 NM_018328.4(MBD5): c.1535C> T (p.Ser512Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201695275 GRCh37 Chromosome 2, 149227047: 149227047
47 MBD5 NM_018328.4(MBD5): c.1535C> T (p.Ser512Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201695275 GRCh38 Chromosome 2, 148469478: 148469478
48 MBD5 NM_018328.4(MBD5): c.1961A> T (p.Asp654Val) single nucleotide variant Likely benign rs115495710 GRCh38 Chromosome 2, 148469904: 148469904
49 MBD5 NM_018328.4(MBD5): c.1961A> T (p.Asp654Val) single nucleotide variant Likely benign rs115495710 GRCh37 Chromosome 2, 149227473: 149227473
50 MBD5 NM_018328.4(MBD5): c.1963G> A (p.Ala655Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs576930680 GRCh37 Chromosome 2, 149227475: 149227475

Copy number variations for Mbd5 Haploinsufficiency from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 137593 2 148400000 149600000 Microdeletion EPC2 2q23.1 microdeletion syndrome
2 137595 2 148400000 149600000 Microdeletion MBD5 2q23.1 microdeletion syndrome

Expression for Mbd5 Haploinsufficiency

Search GEO for disease gene expression data for Mbd5 Haploinsufficiency.

Pathways for Mbd5 Haploinsufficiency

GO Terms for Mbd5 Haploinsufficiency

Sources for Mbd5 Haploinsufficiency

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