MCID: MSC044
MIFTS: 14

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 malady

Genetic diseases, Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
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Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (protein-O-mannosyltransferase 2). Affiliated tissues include brain.

Description from OMIM:46 613156

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 46


Classifications:



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

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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 28)
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 hyporeflexia HP:0001265
13 motor delay HP:0001270
14 areflexia HP:0001284
15 cerebellar hypoplasia HP:0001321
16 flexion contracture HP:0001371
17 hypoplasia of the corpus callosum HP:0002079
18 respiratory insufficiency HP:0002093
19 ventriculomegaly HP:0002119
20 cerebral cortical atrophy HP:0002120
21 scoliosis HP:0002650
22 hip dislocation HP:0002827
23 elevated serum creatine phosphokinase HP:0003236
24 hyperlordosis HP:0003307
25 generalized muscle weakness HP:0003324
26 muscular dystrophy HP:0003560
27 proximal muscle weakness HP:0003701
28 facial palsy HP:0010628

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

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Drug clinical trials:

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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:

32
Brain

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:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)single nucleotide variantPathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
2POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)single nucleotide variantPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
3POMT2NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter)single nucleotide variantPathogenicrs267606963GRCh37Chr 14, 77745163: 77745163
4POMT2NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg)single nucleotide variantPathogenicrs267606964GRCh37Chr 14, 77743730: 77743730
5POMT2NM_013382.5(POMT2): c.737G> A (p.Gly246Asp)single nucleotide variantPathogenicrs267606966GRCh37Chr 14, 77767512: 77767512
6POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)single nucleotide variantPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
7POMT2POMT2, IVS1DS, G-C, +5single nucleotide variantPathogenic

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

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Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type B, 2

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet