MCID: MSC044
MIFTS: 23

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 malady

Genetic diseases, Neuronal diseases, Muscle diseases, Mental diseases, Rare diseases, Metabolic diseases, Eye diseases, Fetal diseases categories

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 49 11
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 67
 
Muscular Dystrophy Congenital Pomt2-Related 67
Mddgb2 67


Classifications:



External Ids:

OMIM49 613156
MedGen34 C3150416
MeSH36 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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OMIM:49 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 pigmentary retinopathy, left ventricular hypertrophy and autosomal recessive inheritance. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein-O-Mannosyltransferase 2). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot:67 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type b, 110.1

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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Symptoms by clinical synopsis from OMIM:

613156

Clinical features from OMIM:

613156

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

(show all 29)
id Description Frequency HPO Source Accession
1 pigmentary retinopathy rare (5%) HP:0000580
2 left ventricular hypertrophy rare (5%) HP:0001712
3 autosomal recessive inheritance HP:0000007
4 cryptorchidism HP:0000028
5 micropenis HP:0000054
6 macroglossia HP:0000158
7 open mouth HP:0000194
8 microcephaly HP:0000252
9 strabismus HP:0000486
10 myopia HP:0000545
11 intellectual disability HP:0001249
12 muscular hypotonia HP:0001252
13 hyporeflexia HP:0001265
14 motor delay HP:0001270
15 areflexia HP:0001284
16 cerebellar hypoplasia HP:0001321
17 flexion contracture HP:0001371
18 hypoplasia of the corpus callosum HP:0002079
19 respiratory insufficiency HP:0002093
20 ventriculomegaly HP:0002119
21 cerebral cortical atrophy HP:0002120
22 scoliosis HP:0002650
23 hip dislocation HP:0002827
24 elevated serum creatine phosphokinase HP:0003236
25 hyperlordosis HP:0003307
26 generalized muscle weakness HP:0003324
27 proximal muscle weakness HP:0003701
28 congenital muscular dystrophy HP:0003741
29 facial palsy HP:0010628

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

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Interventional clinical trials:

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

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

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

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

33
Brain, Eye

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type B, 2 or affiliated genes

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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

67
id Symbol AA change Variation ID SNP ID
1POMT2p.Gly246AspVAR_065039
2POMT2p.Tyr666CysVAR_065045
3POMT2p.Phe717SerVAR_065046
4POMT2p.Gly726GluVAR_065047
5POMT2p.Trp748ArgVAR_065048

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)single nucleotide variantPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
2POMT2NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter)single nucleotide variantPathogenicrs267606963GRCh37Chr 14, 77745163: 77745163
3POMT2NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg)single nucleotide variantPathogenicrs267606964GRCh37Chr 14, 77743730: 77743730
4POMT2NM_013382.5(POMT2): c.737G> A (p.Gly246Asp)single nucleotide variantPathogenicrs267606966GRCh37Chr 14, 77767512: 77767512
5POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)single nucleotide variantPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
6POMT2NM_013382.5(POMT2): c.248+5G> Csingle nucleotide variantPathogenicrs587777816GRCh38Chr 14, 77320429: 77320429

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet