MCID: MBD001
MIFTS: 28

Mbd5 Haploinsufficiency

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Mbd5 Haploinsufficiency

MalaCards integrated aliases for Mbd5 Haploinsufficiency:

Name: Mbd5 Haploinsufficiency 23
2q23.1 Microdeletion Syndrome 23 49 55
Pseudo-Angelman Syndrome 49 55
Monosomy 2q23.1 49 55
Del(2)(q23.1) 49 55
Mbd5-Associated Neurodevelopmental Disorders 23
Chromosome 2q23.1 Microdeletion Syndrome 49
Mand 23

Characteristics:

Orphanet epidemiological data:

55
2q23.1 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

GeneReviews:

23
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 : 49 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.  Last updated: 9/1/2016

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

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 11.6
2 kleefstra syndrome 11.2
3 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.2
4 autism 10.0
5 alacrima, achalasia, and mental retardation syndrome 10.0
6 autism spectrum disorder 10.0
7 epilepsy 10.0
8 neuronitis 10.0
9 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:

55 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
2 open mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000194
3 everted lower lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0000232
4 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
5 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
6 malar flattening 55 31 frequent (33%) Frequent (79-30%) HP:0000272
7 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
8 broad forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000337
9 synophrys 55 31 frequent (33%) Frequent (79-30%) HP:0000664
10 stereotypy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000733
11 paroxysmal bursts of laughter 55 31 frequent (33%) Frequent (79-30%) HP:0000749
12 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
13 hyperactivity 55 31 frequent (33%) Frequent (79-30%) HP:0000752
14 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
15 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
16 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
17 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
18 macrodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001572
19 sandal gap 55 31 frequent (33%) Frequent (79-30%) HP:0001852
20 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
21 generalized hirsutism 55 31 frequent (33%) Frequent (79-30%) HP:0002230
22 sleep disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0002360
23 highly arched eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0002553
24 polyphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002591
25 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
26 short palm 55 31 frequent (33%) Frequent (79-30%) HP:0004279
27 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
28 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
29 tented upper lip vermilion 55 31 frequent (33%) Frequent (79-30%) HP:0010804
30 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
31 self-injurious behavior 55 31 frequent (33%) Frequent (79-30%) HP:0100716
32 growth delay 55 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:

38
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
MBD5 Haploinsufficiency ( 27786435 )
1993

Variations for Mbd5 Haploinsufficiency

ClinVar genetic disease variations for Mbd5 Haploinsufficiency:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 MBD5 MBD5, THR157GLNFSTER4 undetermined variant Pathogenic
2 MBD5 NM_018328.4(MBD5): c.150delT (p.Thr52Hisfs) deletion Pathogenic rs398122412 GRCh37 Chromosome 2, 149220187: 149220187
3 EPC2; KIF5C; MBD5; ORC4 NC_000002.12: g.147973457_148903258del deletion Pathogenic NCBI36 Chromosome 2, 148447496: 149377297
4 NC_000002.10: g.146798229_150310317del3512089 deletion Pathogenic NCBI36 Chromosome 2, 146798229: 150310317
5 MBD5; ORC4 NC_000002.12 deletion Pathogenic NCBI36 Chromosome 2, 148432391: 148737275
6 MBD5 NM_018328.4(MBD5): c.340_347delAAAAGCAT (p.Lys114Glyfs) deletion Pathogenic rs794727928 GRCh37 Chromosome 2, 149221431: 149221438
7 MBD5 nsv513766 deletion Pathogenic
8 MBD5 NM_018328.4(MBD5): c.890_891delTA (p.Ile297Thrfs) deletion Pathogenic rs796052719 GRCh38 Chromosome 2, 148468833: 148468834
9 MBD5 NM_018328.4(MBD5): c.440C> G (p.Ser147Ter) single nucleotide variant Pathogenic rs886041003 GRCh38 Chromosome 2, 148468383: 148468383
10 ACVR2A NC_000002.11: g.(?_148384665)_(148560710_?)del deletion Pathogenic GRCh37 Chromosome 2, 148384665: 148560710
11 ACVR2A NC_000002.11: g.(?_148483962)_(148694158_?)del deletion Pathogenic GRCh37 Chromosome 2, 148483962: 148694158
12 ACVR2A NC_000002.11: g.(?_148064362)_(148777233_?)del deletion Pathogenic GRCh37 Chromosome 2, 148064362: 148777233
13 MBD5 NC_000002.11: g.(?_148596092)_(148979574_?)del deletion Pathogenic GRCh37 Chromosome 2, 148596092: 148979574
14 ORC4 NC_000002.11: g.(?_148447295)_(148651456_?)del deletion Pathogenic GRCh37 Chromosome 2, 148447295: 148651456
15 LRP1B NC_000002.11: g.(?_140621941)_(149324662_?)dup duplication Pathogenic GRCh37 Chromosome 2, 140621941: 149324662
16 ORC4 NC_000002.11: g.(?_148400000)_(149600000_?)dup duplication Pathogenic GRCh37 Chromosome 2, 148400000: 149600000
17 MBD5 NM_018328.4(MBD5): c.2299_2302delAACT (p.Asn767Leufs) deletion Pathogenic rs1060501153 GRCh38 Chromosome 2, 148470242: 148470245
18 MBD5 NM_018328.4(MBD5): c.4455delC (p.Lys1486Asnfs) deletion Pathogenic rs1060501151 GRCh38 Chromosome 2, 148512911: 148512911
19 ACVR2A; ORC4 NC_000002.11: g.(?_148496550)_(148737336_?)dup duplication Pathogenic GRCh37 Chromosome 2, 148496550: 148737336
20 ACVR2A; EPC2; MBD5; ORC4 NC_000002.11: g.(?_148099735)_(149441341_?)dup duplication Pathogenic GRCh37 Chromosome 2, 148099735: 149441341
21 MBD5 NM_018328.4(MBD5): c.2633delC (p.Pro878Hisfs) deletion Pathogenic GRCh38 Chromosome 2, 148483224: 148483224

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

Cellular components related to Mbd5 Haploinsufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.62 ACVR2A LRP1B

Sources for Mbd5 Haploinsufficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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