MDDGB2
MCID: MSC044
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 (MDDGB2) malady

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 54 13 69
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 66 29
Muscular Dystrophy Congenital Pomt2-Related 66
Mddgb2 66

Characteristics:

HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613156
MedGen 40 C3150416
MeSH 42 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

OMIM : 54 MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural... (613156) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 2, also known as muscular dystrophy-dystroglycanopathy congenital with mental retardation b2, is related to muscular dystrophy-dystroglycanopathy , type b, 1, and has symptoms including generalized muscle weakness, intellectual disability and muscular hypotonia. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 66 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B2: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities.

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 1 10.8

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Symptoms by clinical synopsis from OMIM:

613156

Clinical features from OMIM:

613156

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 generalized muscle weakness 32 HP:0003324
2 intellectual disability 32 HP:0001249
3 muscular hypotonia 32 HP:0001252
4 respiratory insufficiency 32 HP:0002093
5 scoliosis 32 HP:0002650
6 hyperlordosis 32 HP:0003307
7 facial palsy 32 HP:0010628
8 macroglossia 32 HP:0000158
9 microcephaly 32 HP:0000252
10 flexion contracture 32 HP:0001371
11 elevated serum creatine phosphokinase 32 HP:0003236
12 strabismus 32 HP:0000486
13 cryptorchidism 32 HP:0000028
14 ventriculomegaly 32 HP:0002119
15 cerebral cortical atrophy 32 HP:0002120
16 hip dislocation 32 HP:0002827
17 myopia 32 HP:0000545
18 cerebellar hypoplasia 32 HP:0001321
19 left ventricular hypertrophy 32 HP:0001712
20 open mouth 32 HP:0000194
21 areflexia 32 HP:0001284
22 hyporeflexia 32 HP:0001265
23 motor delay 32 HP:0001270
24 congenital muscular dystrophy 32 HP:0003741
25 hypoplasia of the corpus callosum 32 HP:0002079
26 micropenis 32 HP:0000054
27 proximal muscle weakness 32 HP:0003701
28 pigmentary retinopathy 32 HP:0000580

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:


facial paresis, generalized muscle weakness

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

39
Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

66
id Symbol AA change Variation ID SNP ID
1 POMT2 p.Gly246Asp VAR_065039 rs267606966
2 POMT2 p.Tyr666Cys VAR_065045 rs200198778
3 POMT2 p.Phe717Ser VAR_065046
4 POMT2 p.Gly726Glu VAR_065047 rs267606969
5 POMT2 p.Trp748Arg VAR_065048 rs267606964

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POMT2 NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh37 Chromosome 14, 77745107: 77745107
2 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh37 Chromosome 14, 77743795: 77743795
3 POMT2 NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter) single nucleotide variant Pathogenic rs267606963 GRCh37 Chromosome 14, 77745163: 77745163
4 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Pathogenic rs267606964 GRCh37 Chromosome 14, 77743730: 77743730
5 POMT2 NM_013382.5(POMT2): c.737G> A (p.Gly246Asp) single nucleotide variant Pathogenic rs267606966 GRCh37 Chromosome 14, 77767512: 77767512
6 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh37 Chromosome 14, 77762566: 77762566
7 POMT2 NM_013382.5(POMT2): c.248+5G> C single nucleotide variant Pathogenic rs587777816 GRCh38 Chromosome 14, 77320429: 77320429
8 POMT2 NM_013382.5(POMT2): c.1045_1052delCGGATGGCinsG (p.Arg349Alafs) indel Pathogenic rs886042094 GRCh37 Chromosome 14, 77762571: 77762578

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 2.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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