MCID: MSC044
MIFTS: 25

Muscular Dystrophy-Dystroglycanopathy , Type B, 2 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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 52 12 68
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 70 27
 
Muscular Dystrophy Congenital Pomt2-Related 70
Mddgb2 70

Characteristics:

HPO:

64
muscular dystrophy-dystroglycanopathy , type b, 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613156
MedGen37 C3150416
MeSH39 D009136

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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OMIM:52 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 cryptorchidism. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain.

UniProtKB/Swiss-Prot:70 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, 110.8

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

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Symptoms by clinical synopsis from OMIM:

613156

Clinical features from OMIM:

613156

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

 64 (show all 28)
id Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy64 rare (5%) HP:0000580
2 left ventricular hypertrophy64 rare (5%) HP:0001712
3 cryptorchidism64 HP:0000028
4 micropenis64 HP:0000054
5 macroglossia64 HP:0000158
6 open mouth64 HP:0000194
7 microcephaly64 HP:0000252
8 strabismus64 HP:0000486
9 myopia64 HP:0000545
10 intellectual disability64 HP:0001249
11 muscular hypotonia64 HP:0001252
12 hyporeflexia64 HP:0001265
13 motor delay64 HP:0001270
14 areflexia64 HP:0001284
15 cerebellar hypoplasia64 HP:0001321
16 flexion contracture64 HP:0001371
17 hypoplasia of the corpus callosum64 HP:0002079
18 respiratory insufficiency64 HP:0002093
19 ventriculomegaly64 HP:0002119
20 cerebral cortical atrophy64 HP:0002120
21 scoliosis64 HP:0002650
22 hip dislocation64 HP:0002827
23 elevated serum creatine phosphokinase64 HP:0003236
24 hyperlordosis64 HP:0003307
25 generalized muscle weakness64 HP:0003324
26 proximal muscle weakness64 HP:0003701
27 congenital muscular dystrophy64 HP:0003741
28 facial palsy64 HP:0010628

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


facial paresis, generalized muscle weakness

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

id Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B227

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

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

36
Brain

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:

70
id Symbol AA change Variation ID SNP ID
1POMT2p.Gly246AspVAR_065039rs267606966
2POMT2p.Tyr666CysVAR_065045rs200198778
3POMT2p.Phe717SerVAR_065046
4POMT2p.Gly726GluVAR_065047rs267606969
5POMT2p.Trp748ArgVAR_065048rs267606964

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.1045_1052delCGGATGGCinsG (p.Arg349Alafs)indelPathogenicrs886042094GRCh37Chr 14, 77762571: 77762578
2POMT2NM_013382.5(POMT2): c.1997A> G (p.Tyr666Cys)SNVLikely pathogenic, Pathogenicrs200198778GRCh37Chr 14, 77745107: 77745107
3POMT2NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu)SNVPathogenicrs267606969GRCh37Chr 14, 77743795: 77743795
4POMT2NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter)SNVPathogenicrs267606963GRCh37Chr 14, 77745163: 77745163
5POMT2NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg)SNVPathogenicrs267606964GRCh37Chr 14, 77743730: 77743730
6POMT2NM_013382.5(POMT2): c.737G> A (p.Gly246Asp)SNVPathogenicrs267606966GRCh37Chr 14, 77767512: 77767512
7POMT2NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser)SNVPathogenicrs267606970GRCh37Chr 14, 77762566: 77762566
8POMT2NM_013382.5(POMT2): c.248+5G> CSNVPathogenicrs587777816GRCh38Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet