MAND
MCID: MBD001
MIFTS: 28

Mbd5 Haploinsufficiency (MAND)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mbd5 Haploinsufficiency

MalaCards integrated aliases for Mbd5 Haploinsufficiency:

Name: Mbd5 Haploinsufficiency 24 25
2q23.1 Microdeletion Syndrome 24 53 25 59
2q23.1 Microduplication Syndrome 25 59
Pseudo-Angelman Syndrome 53 59
Monosomy 2q23.1 53 59
Del(2)(q23.1) 53 59
Mand 24 25
Mbd5-Associated Neurodevelopmental Disorders 24
Mbd5-Associated Neurodevelopmental Disorder 25
Mbd5 Associated Neurodevelopmental Disorder 6
Chromosome 2q23.1 Microdeletion Syndrome 53
Trisomy 2q23.1 59
Dup(2)(q23.1) 59

Characteristics:

Orphanet epidemiological data:

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

Genetics Home Reference : 25 MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.

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 11.7
2 kleefstra syndrome 11.3
3 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.4
4 autism 10.1
5 alacrima, achalasia, and mental retardation syndrome 10.1
6 autism spectrum disorder 10.1
7 epilepsy 10.1

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 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 constipation 59 32 frequent (33%) Frequent (79-30%) HP:0002019
6 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
7 self-injurious behavior 59 32 frequent (33%) Frequent (79-30%) HP:0100716
8 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
9 hip dysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001385
10 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
11 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 stereotypy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000733
14 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
15 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
16 short palm 59 32 frequent (33%) Frequent (79-30%) HP:0004279
17 generalized hirsutism 59 32 frequent (33%) Frequent (79-30%) HP:0002230
18 everted lower lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0000232
19 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
20 broad forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000337
21 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
22 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
23 sandal gap 59 32 frequent (33%) Frequent (79-30%) HP:0001852
24 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
25 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
26 polyphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002591
27 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
28 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
29 hyperactivity 59 32 frequent (33%) Frequent (79-30%) HP:0000752
30 macrodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001572
31 paroxysmal bursts of laughter 59 32 frequent (33%) Frequent (79-30%) HP:0000749
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 307)
# 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 MBD5; ORC4 NC_000002.12 deletion Pathogenic NCBI36 Chromosome 2, 148432391: 148737275
31 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh37 Chromosome 2, 148715921: 149020805
32 MBD5; ORC4 NC_000002.12 deletion Pathogenic GRCh38 Chromosome 2, 147958352: 148263236
33 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh37 Chromosome 2, 149241000: 149241000
34 MBD5 NM_018328.4(MBD5): c.2840G> A (p.Gly947Glu) single nucleotide variant Uncertain significance rs114359726 GRCh38 Chromosome 2, 148483431: 148483431
35 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh37 Chromosome 2, 149243509: 149243509
36 MBD5 NM_018328.4(MBD5): c.3044A> G (p.Gln1015Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143028540 GRCh38 Chromosome 2, 148485940: 148485940
37 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh37 Chromosome 2, 149243368: 149243368
38 MBD5 NM_018328.4(MBD5): c.2903C> T (p.Ser968Leu) single nucleotide variant Uncertain significance rs200985982 GRCh38 Chromosome 2, 148485799: 148485799
39 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh37 Chromosome 2, 149216396: 149216396
40 MBD5 NM_018328.4(MBD5): c.69G> A (p.Val23=) single nucleotide variant Conflicting interpretations of pathogenicity rs151204004 GRCh38 Chromosome 2, 148458827: 148458827
41 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh37 Chromosome 2, 149221431: 149221438
42 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh38 Chromosome 2, 148463862: 148463869
43 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh37 Chromosome 2, 149221327: 149221327
44 MBD5 NM_018328.4(MBD5): c.236G> A (p.Gly79Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs34995577 GRCh38 Chromosome 2, 148463758: 148463758
45 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh37 Chromosome 2, 149227791: 149227791
46 MBD5 NM_018328.4(MBD5): c.2279A> G (p.His760Arg) single nucleotide variant Uncertain significance rs763275881 GRCh38 Chromosome 2, 148470222: 148470222
47 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh37 Chromosome 2, 149226308: 149226308
48 MBD5 NM_018328.4(MBD5): c.796A> G (p.Ile266Val) single nucleotide variant Conflicting interpretations of pathogenicity rs568826753 GRCh38 Chromosome 2, 148468739: 148468739
49 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh37 Chromosome 2, 149226111: 149226111
50 MBD5 NM_018328.4(MBD5): c.599G> A (p.Arg200Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs149278000 GRCh38 Chromosome 2, 148468542: 148468542

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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