MCID: MSC044
MIFTS: 27

Muscular Dystrophy-Dystroglycanopathy , Type B, 2

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

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

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 2:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 2 53 13 69
Mddgb2 53 71
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 28
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 71
Muscular Dystrophy, Congenital, Pomt2-Related 53
Muscular Dystrophy Congenital Pomt2-Related 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

31
muscular dystrophy-dystroglycanopathy , type b, 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

OMIM : 53 MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) (Godfrey et al., 2007). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155). (613156)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 2, is also known as mddgb2, and has symptoms including generalized muscle weakness, intellectual disability and respiratory insufficiency. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain, tongue and cortex.

UniProtKB/Swiss-Prot : 71 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, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type a, 8
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 Muscular Dystrophy-Dystroglycanopathy , Type a, 11
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 13
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 9

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

Symptoms via clinical synopsis from OMIM:

53
Respiratory:
respiratory insufficiency

HeadAndNeckHead:
microcephaly

GenitourinaryInternalGenitaliaMale:
cryptorchidism

NeurologicCentralNervousSystem:
cerebellar hypoplasia
areflexia
hyporeflexia
hypoplasia of the corpus callosum
delayed motor development
more
MuscleSoftTissue:
muscular dystrophy
muscle weakness, diffuse
muscle weakness, proximal
muscle hypertrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
more
CardiovascularHeart:
left ventricular hypertrophy (in some patients)
dilated aortic root (in some patients)
left ventricular wall motion abnormalities (in some patients)
left ventricular systolic dysfunction (in some patients)

LaboratoryAbnormalities:
increased serum creatine kinase

HeadAndNeckNeck:
stiff, hyperextended neck

SkeletalSpine:
scoliosis
lordosis

HeadAndNeckEyes:
strabismus
myopia
pigmentary retinopathy (reported in 1 patient)

SkeletalPelvis:
hip dislocation

HeadAndNeckMouth:
open mouth
tongue hypertrophy

GenitourinaryExternalGenitaliaMale:
micropenis

HeadAndNeckFace:
facial muscle weakness

Skeletal:
contractures


Clinical features from OMIM:

613156

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

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 generalized muscle weakness 31 HP:0003324
2 intellectual disability 31 HP:0001249
3 respiratory insufficiency 31 HP:0002093
4 scoliosis 31 HP:0002650
5 hyperlordosis 31 HP:0003307
6 facial palsy 31 HP:0010628
7 macroglossia 31 HP:0000158
8 microcephaly 31 HP:0000252
9 flexion contracture 31 HP:0001371
10 elevated serum creatine phosphokinase 31 HP:0003236
11 strabismus 31 HP:0000486
12 cryptorchidism 31 HP:0000028
13 myopia 31 HP:0000545
14 ventriculomegaly 31 HP:0002119
15 cerebral cortical atrophy 31 HP:0002120
16 hip dislocation 31 HP:0002827
17 cerebellar hypoplasia 31 HP:0001321
18 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
19 open mouth 31 HP:0000194
20 areflexia 31 HP:0001284
21 hyporeflexia 31 HP:0001265
22 motor delay 31 HP:0001270
23 congenital muscular dystrophy 31 HP:0003741
24 hypoplasia of the corpus callosum 31 HP:0002079
25 micropenis 31 HP:0000054
26 proximal muscle weakness 31 HP:0003701
27 generalized hypotonia 31 HP:0001290
28 pigmentary retinopathy 31 occasional (7.5%) HP:0000580
29 left ventricular systolic dysfunction 31 occasional (7.5%) HP:0025169

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:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 28 POMT2

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

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

38
Brain, Tongue, Cortex, Pons

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:

71
# 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
# 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.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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