MAND
MCID: MBD001
MIFTS: 41

Mbd5 Haploinsufficiency (MAND)

Categories: Fetal diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mbd5 Haploinsufficiency

MalaCards integrated aliases for Mbd5 Haploinsufficiency:

Name: Mbd5 Haploinsufficiency 25 20 43
2q23.1 Microdeletion Syndrome 25 20 43 58
Mbd5 Associated Neurodevelopmental Disorder 6 17
2q23.1 Microduplication Syndrome 43 58
Pseudo-Angelman Syndrome 20 58
Monosomy 2q23.1 20 58
Del(2)(q23.1) 20 58
Mand 25 43
Mbd5-Associated Neurodevelopmental Disorders 25
Autosomal Dominant Intellectual Disability 1 20
Mbd5-Associated Neurodevelopmental Disorder 43
Chromosome 2q23.1 Microdeletion Syndrome 20
Mbd25-Related Intellectual Disability 20
Trisomy 2q23.1 58
Dup(2)(q23.1) 58

Characteristics:

Orphanet epidemiological data:

58
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:

25
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:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mbd5 Haploinsufficiency

MedlinePlus Genetics : 43 MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.Children with MAND have mild to severe intellectual disability and developmental delay. They often have poor coordination and do not walk until age 2 or 3. Their walking style (gait) is often unbalanced and wide-based. Language skills, both the production of speech and the ability to understand speech, are very limited in affected individuals. By age 2, most children with MAND develop recurring seizures (epilepsy). Most affected children have feeding problems due to weak muscle tone (hypotonia). Constipation also frequently occurs.Sleep problems are common in MAND and include night terrors, waking frequently during the night, and waking early in the morning. As a result, many affected individuals are extremely tired during the day due to lack of sleep and poor-quality sleep. Most people with MAND have behavior problems similar to autism spectrum disorder, a developmental condition that affects communication and social interaction. They have a short attention span; perform repetitive hand movements (stereotypies), such as clapping, hand licking, and hand sucking; and grind their teeth.People with MAND tend to have subtle facial features, including a broad forehead, thick and highly arched eyebrows, abnormalities of the outer ear, a short nose, a wide or depressed nasal bridge, downturned corners of the mouth, an upper lip that points outward (called a tented lip), and a full lower lip. Some affected individuals have mild skeletal abnormalities including small hands and feet, short fingers (brachydactyly), curved pinky fingers (fifth-finger clinodactyly), or a wide gap between the first and second toes (known as a sandal gap). Rarely, individuals with MAND have heart abnormalities.

MalaCards based summary : Mbd5 Haploinsufficiency, also known as 2q23.1 microdeletion syndrome, is related to microcephaly and global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies. An important gene associated with Mbd5 Haploinsufficiency is MBD5 (Methyl-CpG Binding Domain Protein 5). The drugs Anesthetics and Antibiotics, Antitubercular have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are global developmental delay and delayed speech and language development

GARD : 20 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.

GeneReviews: NBK390803

Related Diseases for Mbd5 Haploinsufficiency

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:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 stereotypy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000733
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
6 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
7 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
8 abnormality of the outer ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000356
9 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
10 seizure 31 hallmark (90%) HP:0001250
11 sleep disturbance 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002360
12 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
13 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
14 self-injurious behavior 58 31 frequent (33%) Frequent (79-30%) HP:0100716
15 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
16 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
17 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
18 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
19 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
20 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
21 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
22 open mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000194
23 sandal gap 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0001852
24 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004209
25 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002553
26 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
27 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
28 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
29 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
30 broad forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000337
31 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
32 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
33 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
34 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
35 broad-based gait 58 31 frequent (33%) Frequent (79-30%) HP:0002136
36 long eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0000527
37 poor eye contact 58 31 frequent (33%) Frequent (79-30%) HP:0000817
38 short palm 58 31 frequent (33%) Frequent (79-30%) HP:0004279
39 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
40 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
41 polyphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002591
42 prominent nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0005274
43 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
44 poor coordination 58 31 frequent (33%) Frequent (79-30%) HP:0002370
45 paroxysmal bursts of laughter 58 31 frequent (33%) Frequent (79-30%) HP:0000749
46 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
47 hypotonia 31 frequent (33%) HP:0001252
48 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
49 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
50 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020

Drugs & Therapeutics for Mbd5 Haploinsufficiency

Drugs for Mbd5 Haploinsufficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Antibiotics, Antitubercular
3 Antiemetics
4 Anti-Bacterial Agents
5 Anti-Inflammatory Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Instructional Programming to Promote the Emergence of Generative Language in Children With Autism Spectrum Disorder Completed NCT02555241
2 Impact of Maxillomandibular Advancement Upon the Pharyngeal Airway Volume and the Apnea-hypopnea Index in the Treatment of Obstructive Sleep Apnea Enrolling by invitation NCT03796078

Search NIH Clinical Center for Mbd5 Haploinsufficiency

Genetic Tests for Mbd5 Haploinsufficiency

Anatomical Context for Mbd5 Haploinsufficiency

MalaCards organs/tissues related to Mbd5 Haploinsufficiency:

40
Eye

Publications for Mbd5 Haploinsufficiency

Articles related to Mbd5 Haploinsufficiency:

(show all 32)
# Title Authors PMID Year
1
Extended spectrum of MBD5 mutations in neurodevelopmental disorders. 6 25 61
23422940 2013
2
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. 61 6 25
21981781 2011
3
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. 61 25 6
19904302 2010
4
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. 25 6 61
19809484 2010
5
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. 25 6
23587880 2014
6
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
7
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes. 61 25
25271084 2015
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
9
Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome. 25 61
25001218 2014
10
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. 6
24885232 2014
11
If not Angelman, what is it? A review of Angelman-like syndromes. 25 61
24779060 2014
12
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. 25 61
23632792 2014
13
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6
23708187 2013
14
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. 6
22726846 2012
15
Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature. 25 61
22407754 2012
16
2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? 61 25
18812405 2009
17
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. 6
17847001 2007
18
Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND). 25
27514998 2016
19
Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. 25
25853262 2015
20
MBD5 regulates iron metabolism via methylation-independent genomic targeting of Fth1 through KAT2A in mice. 25
24750026 2014
21
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. 25
23494922 2013
22
2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features. 25
22085995 2012
23
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. 25
21271666 2011
24
The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. 25
20700456 2010
25
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. 61
32503625 2020
26
[De novo heterozygous mutation in the MBD5 gene associated with bilateral band heterotopia and polymicrogyria]. 61
31820818 2019
27
[Genetic diagnosis of a child with aortic stenosis and thumb aplasia]. 61
30098250 2018
28
MBD5 Haploinsufficiency 61
27786435 2016
29
Trapping MBD5 to understand 2q23.1 microdeletion syndrome. 61
25001217 2014
30
The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. 61
26942102 2014
31
Severe intellectual disability and autistic features associated with microduplication 2q23.1. 61
22085900 2012
32
The essential role of Mbd5 in the regulation of somatic growth and glucose homeostasis in mice. 61
23077600 2012

Variations for Mbd5 Haploinsufficiency

ClinVar genetic disease variations for Mbd5 Haploinsufficiency:

6 (show top 50) (show all 385)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MBD5 nsv513766 Deletion Pathogenic 921 GRCh37:
GRCh38:
2 MBD5 MBD5, THR157GLNFSTER4 Variation Pathogenic 60718 GRCh37:
GRCh38:
3 MBD5 NM_018328.4(MBD5):c.150del (p.Thr52fs) Deletion Pathogenic 88896 rs398122412 GRCh37: 2:149220186-149220186
GRCh38: 2:148462617-148462617
4 MBD5 NM_018328.4(MBD5):c.2299_2302del (p.Asn767fs) Deletion Pathogenic 406455 rs1060501153 GRCh37: 2:149227808-149227811
GRCh38: 2:148470239-148470242
5 MBD5 NM_018328.4(MBD5):c.4455del (p.Lys1486fs) Deletion Pathogenic 406452 rs1060501151 GRCh37: 2:149270475-149270475
GRCh38: 2:148512906-148512906
6 MBD5 NM_018328.4(MBD5):c.4235C>A (p.Ser1412Ter) SNV Pathogenic 561057 rs1559099927 GRCh37: 2:149248135-149248135
GRCh38: 2:148490566-148490566
7 MBD5 NM_018328.5:c.728del Deletion Pathogenic 812175 GRCh37: 2:149226238-149226238
GRCh38: 2:148468669-148468669
8 MBD5 NC_000002.12:g.(?_148458759)_(148512941_?)del Deletion Pathogenic 830448 GRCh37: 2:149216328-149270510
GRCh38:
9 MBD5 NC_000002.12:g.(?_148458739)_(148463939_?)del Deletion Pathogenic 831961 GRCh37: 2:149216308-149221508
GRCh38:
10 MBD5 NC_000002.12:g.(?_148458739)_(148512961_?)del Deletion Pathogenic 832942 GRCh37: 2:149216308-149270530
GRCh38:
11 MBD5 NM_018328.5(MBD5):c.698del (p.Gly233fs) Deletion Pathogenic 841779 GRCh37: 2:149226209-149226209
GRCh38: 2:148468640-148468640
12 MBD5 NM_018328.4(MBD5):c.1000del (p.Gln334fs) Deletion Pathogenic 665197 rs1574459612 GRCh37: 2:149226509-149226509
GRCh38: 2:148468940-148468940
13 MBD5 NM_018328.4(MBD5):c.2633del (p.Pro878fs) Deletion Pathogenic 468775 rs1553519853 GRCh37: 2:149240791-149240791
GRCh38: 2:148483222-148483222
14 MBD5 NM_018328.4(MBD5):c.379del (p.Ser127fs) Deletion Pathogenic 536672 rs1553517984 GRCh37: 2:149221470-149221470
GRCh38: 2:148463901-148463901
15 MBD5 NM_001378120.1(MBD5):c.535_547del (p.Gly179fs) Deletion Pathogenic 948874 GRCh37: 2:149226044-149226056
GRCh38: 2:148468475-148468487
16 MBD5 NM_001378120.1(MBD5):c.4429C>T (p.Gln1477Ter) SNV Pathogenic 951543 GRCh37: 2:149247630-149247630
GRCh38: 2:148490061-148490061
17 MBD5 NM_001378120.1(MBD5):c.947del (p.Asn316fs) Deletion Pathogenic 966643 GRCh37: 2:149226458-149226458
GRCh38: 2:148468889-148468889
18 MBD5 NM_018328.4(MBD5):c.2321del (p.Pro774fs) Deletion Pathogenic 536673 rs1553518752 GRCh37: 2:149227832-149227832
GRCh38: 2:148470263-148470263
19 MBD5 NM_018328.4(MBD5):c.2586_2667del (p.Ser863fs) Deletion Pathogenic 576080 rs1559094754 GRCh37: 2:149240746-149240827
GRCh38: 2:148483177-148483258
20 EPC2 and overlap with 8 gene(s) Duplication Pathogenic 403691 GRCh37: 2:140621941-149324662
GRCh38:
21 KIF5C and overlap with 4 gene(s) Duplication Pathogenic 403692 GRCh37: 2:148400000-149600000
GRCh38:
22 overlap with 4 genes Duplication Pathogenic 417821 GRCh37: 2:148099735-149441341
GRCh38:
23 overlap with 2 genes Duplication Pathogenic 417820 GRCh37: 2:148496550-148737336
GRCh38:
24 MBD5 NM_001378120.1(MBD5):c.217-1G>C SNV Pathogenic 973733 GRCh37: 2:149221307-149221307
GRCh38: 2:148463738-148463738
25 MBD5 NM_018328.4(MBD5):c.1025dup (p.Ser343fs) Duplication Pathogenic 536668 rs1553518511 GRCh37: 2:149226535-149226536
GRCh38: 2:148468966-148468967
26 MBD5 NM_018328.4(MBD5):c.340_347del (p.Lys114fs) Deletion Pathogenic 198890 rs794727928 GRCh37: 2:149221428-149221435
GRCh38: 2:148463859-148463866
27 MBD5 NM_018328.4(MBD5):c.397+1G>A SNV Pathogenic 536667 rs1553517991 GRCh37: 2:149221489-149221489
GRCh38: 2:148463920-148463920
28 overlap with 4 genes NC_000002.10:g.148447496_149377297del Deletion Pathogenic 183383 GRCh37: 2:148731026-149660827
GRCh38: 2:147973457-148903258
29 overlap with 2 genes NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del Deletion Pathogenic 183385 GRCh37: 2:148715921-149020805
GRCh38: 2:147958352-148263236
30 MBD5 , ORC4 and overlap with 1 gene(s) Deletion Pathogenic 403690 GRCh37: 2:148447295-148651456
GRCh38:
31 MBD5 and overlap with 2 gene(s) Deletion Pathogenic 403687 GRCh37: 2:148483962-148694158
GRCh38:
32 MBD5 and overlap with 2 gene(s) Deletion Pathogenic 403688 GRCh37: 2:148064362-148777233
GRCh38:
33 overlap with 3 genes Deletion Pathogenic 403689 GRCh37: 2:148596092-148979574
GRCh38:
34 ACVR2A , MBD5 , ORC4 Deletion Pathogenic 403686 GRCh37: 2:148384665-148560710
GRCh38:
35 MBD5 NM_018328.4(MBD5):c.440C>G (p.Ser147Ter) SNV Pathogenic 267726 rs886041003 GRCh37: 2:149225952-149225952
GRCh38: 2:148468383-148468383
36 MBD5 NM_018328.4(MBD5):c.888_889TA[1] (p.Ile297fs) Microsatellite Pathogenic 206110 rs796052719 GRCh37: 2:149226399-149226400
GRCh38: 2:148468830-148468831
37 MBD5 NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) SNV Likely pathogenic 198891 rs34995577 GRCh37: 2:149221327-149221327
GRCh38: 2:148463758-148463758
38 MBD5 NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter) SNV Likely pathogenic 931316 GRCh37: 2:149226342-149226342
GRCh38: 2:148468773-148468773
39 MBD5 NM_001378120.1(MBD5):c.1119del (p.Val374fs) Deletion Likely pathogenic 977793 GRCh37: 2:149226631-149226631
GRCh38: 2:148469062-148469062
40 MBD5 NM_018328.4(MBD5):c.114-2A>T SNV Likely pathogenic 658842 rs1574451881 GRCh37: 2:149220149-149220149
GRCh38: 2:148462580-148462580
41 MBD5 NM_001378120.1(MBD5):c.1A>G (p.Met1Val) SNV Likely pathogenic 813806 GRCh37: 2:149216328-149216328
GRCh38: 2:148458759-148458759
42 MBD5 NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) SNV Likely pathogenic 206095 rs145475623 GRCh37: 2:149247043-149247043
GRCh38: 2:148489474-148489474
43 MBD5 NM_018328.4(MBD5):c.3253G>A (p.Val1085Ile) SNV Conflicting interpretations of pathogenicity 279846 rs199626531 GRCh37: 2:149247153-149247153
GRCh38: 2:148489584-148489584
44 MBD5 NM_018328.4(MBD5):c.3389T>C (p.Ile1130Thr) SNV Conflicting interpretations of pathogenicity 452274 rs748142226 GRCh37: 2:149247289-149247289
GRCh38: 2:148489720-148489720
45 MBD5 NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) SNV Conflicting interpretations of pathogenicity 211440 rs543329958 GRCh37: 2:149248058-149248058
GRCh38: 2:148490489-148490489
46 MBD5 NM_018328.4(MBD5):c.1382G>A (p.Arg461His) SNV Conflicting interpretations of pathogenicity 206112 rs139964770 GRCh37: 2:149226894-149226894
GRCh38: 2:148469325-148469325
47 MBD5 NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) SNV Conflicting interpretations of pathogenicity 198891 rs34995577 GRCh37: 2:149221327-149221327
GRCh38: 2:148463758-148463758
48 MBD5 NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) SNV Conflicting interpretations of pathogenicity 206103 rs752035001 GRCh37: 2:149247439-149247439
GRCh38: 2:148489870-148489870
49 MBD5 NM_018328.4(MBD5):c.3355G>T (p.Ala1119Ser) SNV Uncertain significance 206116 rs373177231 GRCh37: 2:149247255-149247255
GRCh38: 2:148489686-148489686
50 MBD5 NM_018328.4(MBD5):c.935A>T (p.Lys312Ile) SNV Uncertain significance 206066 rs146031838 GRCh37: 2:149226447-149226447
GRCh38: 2:148468878-148468878

Copy number variations for Mbd5 Haploinsufficiency from CNVD:

7
# CNVD ID Chromosome 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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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