MDDGB2
MCID: MSC044
MIFTS: 27

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

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 57 75 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B2 29 6
Mddgb2 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B2 75
Muscular Dystrophy, Congenital, Pomt2-Related 57
Muscular Dystrophy Congenital Pomt2-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in infancy


HPO:

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


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 2

OMIM : 57 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 congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b2, and has symptoms including generalized muscle weakness and facial paresis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 2 is POMT2 (Protein O-Mannosyltransferase 2). Affiliated tissues include brain, eye and tongue, and related phenotypes are intellectual disability and respiratory insufficiency

UniProtKB/Swiss-Prot : 75 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 C, 15 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 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory insufficiency

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Central Nervous System:
cerebellar hypoplasia
areflexia
hyporeflexia
hypoplasia of the corpus callosum
delayed motor development
more
Muscle Soft Tissue:
muscular dystrophy
muscle weakness, diffuse
muscle weakness, proximal
muscle hypertrophy
muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, )
more
Cardiovascular Heart:
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)

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
stiff, hyperextended neck

Skeletal Spine:
scoliosis
lordosis

Head And Neck Eyes:
strabismus
myopia
pigmentary retinopathy (reported in 1 patient)

Skeletal Pelvis:
hip dislocation

Head And Neck Mouth:
open mouth
tongue hypertrophy

Genitourinary External Genitalia Male:
micropenis

Head And Neck Face:
facial muscle weakness

Skeletal:
contractures


Clinical features from OMIM:

613156

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

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 respiratory insufficiency 32 HP:0002093
3 scoliosis 32 HP:0002650
4 hyperlordosis 32 HP:0003307
5 facial palsy 32 HP:0010628
6 macroglossia 32 HP:0000158
7 microcephaly 32 HP:0000252
8 flexion contracture 32 HP:0001371
9 elevated serum creatine phosphokinase 32 HP:0003236
10 generalized muscle weakness 32 HP:0003324
11 strabismus 32 HP:0000486
12 cryptorchidism 32 HP:0000028
13 myopia 32 HP:0000545
14 ventriculomegaly 32 HP:0002119
15 cerebral cortical atrophy 32 HP:0002120
16 motor delay 32 HP:0001270
17 hip dislocation 32 HP:0002827
18 cerebellar hypoplasia 32 HP:0001321
19 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
20 open mouth 32 HP:0000194
21 areflexia 32 HP:0001284
22 hyporeflexia 32 HP:0001265
23 proximal muscle weakness 32 HP:0003701
24 muscular dystrophy 32 HP:0003560
25 congenital muscular dystrophy 32 HP:0003741
26 micropenis 32 HP:0000054
27 generalized hypotonia 32 HP:0001290
28 hypoplasia of the corpus callosum 32 HP:0002079
29 pigmentary retinopathy 32 occasional (7.5%) HP:0000580
30 left ventricular systolic dysfunction 32 occasional (7.5%) HP:0025169

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


generalized muscle weakness, facial paresis

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 29 POMT2

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

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

41
Brain, Eye, 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:

75
# 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 (show top 50) (show all 189)
# 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.1997A> G (p.Tyr666Cys) single nucleotide variant Pathogenic/Likely pathogenic rs200198778 GRCh38 Chromosome 14, 77278764: 77278764
3 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh37 Chromosome 14, 77743795: 77743795
4 POMT2 NM_013382.5(POMT2): c.2177G> A (p.Gly726Glu) single nucleotide variant Pathogenic rs267606969 GRCh38 Chromosome 14, 77277452: 77277452
5 POMT2 NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter) single nucleotide variant Pathogenic rs267606963 GRCh37 Chromosome 14, 77745163: 77745163
6 POMT2 NM_013382.5(POMT2): c.1941G> A (p.Trp647Ter) single nucleotide variant Pathogenic rs267606963 GRCh38 Chromosome 14, 77278820: 77278820
7 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh37 Chromosome 14, 77743730: 77743730
8 POMT2 NM_013382.5(POMT2): c.2242T> C (p.Trp748Arg) single nucleotide variant Uncertain significance rs267606964 GRCh38 Chromosome 14, 77277387: 77277387
9 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh37 Chromosome 14, 77769241: 77769241
10 POMT2 NM_013382.5(POMT2): c.593T> A (p.Ile198Asn) single nucleotide variant Pathogenic rs267606972 GRCh38 Chromosome 14, 77302898: 77302898
11 POMT2 NM_013382.5(POMT2): c.737G> A (p.Gly246Asp) single nucleotide variant Pathogenic rs267606966 GRCh37 Chromosome 14, 77767512: 77767512
12 POMT2 NM_013382.5(POMT2): c.737G> A (p.Gly246Asp) single nucleotide variant Pathogenic rs267606966 GRCh38 Chromosome 14, 77301169: 77301169
13 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh37 Chromosome 14, 77762566: 77762566
14 POMT2 NM_013382.5(POMT2): c.1057G> A (p.Gly353Ser) single nucleotide variant Pathogenic rs267606970 GRCh38 Chromosome 14, 77296223: 77296223
15 POMT2 NM_013382.5(POMT2): c.248+5G> C single nucleotide variant Pathogenic rs587777816 GRCh38 Chromosome 14, 77320429: 77320429
16 POMT2 NM_013382.5(POMT2): c.248+5G> C single nucleotide variant Pathogenic rs587777816 GRCh37 Chromosome 14, 77786772: 77786772
17 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh37 Chromosome 14, 77762578: 77762578
18 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 GRCh38 Chromosome 14, 77296235: 77296235
19 POMT2 NM_013382.5(POMT2): c.1045C> T (p.Arg349Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs141339355 NCBI36 Chromosome 14, 76832331: 76832331
20 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh37 Chromosome 14, 77751891: 77751891
21 POMT2 NM_013382.5(POMT2): c.1417C> T (p.Arg473Ter) single nucleotide variant Pathogenic rs368817785 GRCh38 Chromosome 14, 77285548: 77285548
22 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh37 Chromosome 14, 77786793: 77786793
23 POMT2 NM_013382.5(POMT2): c.232G> C (p.Glu78Gln) single nucleotide variant Uncertain significance rs151103906 GRCh38 Chromosome 14, 77320450: 77320450
24 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh37 Chromosome 14, 77778332: 77778332
25 POMT2 NM_013382.5(POMT2): c.293A> G (p.Asn98Ser) single nucleotide variant Uncertain significance rs368034790 GRCh38 Chromosome 14, 77311989: 77311989
26 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh37 Chromosome 14, 77778305: 77778305
27 POMT2 NM_013382.5(POMT2): c.320C> T (p.Pro107Leu) single nucleotide variant Uncertain significance rs398124264 GRCh38 Chromosome 14, 77311962: 77311962
28 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh37 Chromosome 14, 77765124: 77765124
29 POMT2 NM_013382.5(POMT2): c.924-10C> T single nucleotide variant Benign/Likely benign rs142122657 GRCh38 Chromosome 14, 77298781: 77298781
30 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh38 Chromosome 14, 77278850: 77278850
31 POMT2 NM_013382.5(POMT2): c.1911G> T (p.Leu637=) single nucleotide variant Benign rs3209079 GRCh37 Chromosome 14, 77745193: 77745193
32 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh37 Chromosome 14, 77786864: 77786864
33 POMT2 NM_013382.5(POMT2): c.161C> A (p.Ala54Glu) single nucleotide variant Benign/Likely benign rs8177536 GRCh38 Chromosome 14, 77320521: 77320521
34 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh37 Chromosome 14, 77751925: 77751925
35 POMT2 NM_013382.5(POMT2): c.1383A> G (p.Arg461=) single nucleotide variant Benign rs2270419 GRCh38 Chromosome 14, 77285582: 77285582
36 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh37 Chromosome 14, 77743797: 77743797
37 POMT2 NM_013382.5(POMT2): c.2175C> T (p.Tyr725=) single nucleotide variant Benign rs116434191 GRCh38 Chromosome 14, 77277454: 77277454
38 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh38 Chromosome 14, 77286815: 77286815
39 POMT2 NM_013382.5(POMT2): c.1261C> T (p.Arg421Trp) single nucleotide variant Uncertain significance rs727502855 GRCh37 Chromosome 14, 77753158: 77753158
40 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh37 Chromosome 14, 77746777: 77746777
41 POMT2 NM_013382.5(POMT2): c.1683T> C (p.Asn561=) single nucleotide variant Benign/Likely benign rs146307965 GRCh38 Chromosome 14, 77280434: 77280434
42 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh37 Chromosome 14, 77753157: 77753157
43 POMT2 NM_013382.5(POMT2): c.1262G> A (p.Arg421Gln) single nucleotide variant Benign/Likely benign rs151078549 GRCh38 Chromosome 14, 77286814: 77286814
44 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh37 Chromosome 14, 77751904: 77751904
45 POMT2 NM_013382.5(POMT2): c.1404A> G (p.Lys468=) single nucleotide variant Conflicting interpretations of pathogenicity rs150491326 GRCh38 Chromosome 14, 77285561: 77285561
46 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh37 Chromosome 14, 77746759: 77746759
47 POMT2 NM_013382.5(POMT2): c.1701C> G (p.Pro567=) single nucleotide variant Conflicting interpretations of pathogenicity rs151051452 GRCh38 Chromosome 14, 77280416: 77280416
48 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh37 Chromosome 14, 77746176: 77746176
49 POMT2 NM_013382.5(POMT2): c.1881G> A (p.Ala627=) single nucleotide variant Conflicting interpretations of pathogenicity rs146588608 GRCh38 Chromosome 14, 77279833: 77279833
50 POMT2 NM_013382.5(POMT2): c.1903G> A (p.Val635Ile) single nucleotide variant Uncertain significance rs142299878 GRCh37 Chromosome 14, 77745201: 77745201

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

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