MCID: MSC048
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 1 57 13 73
Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 6
Mddgb1 57 75
Muscular Dystrophy-Dystroglycanopathy Congenital with Mental Retardation B1 75
Muscular Dystrophy, Congenital, Pomt1-Related 57
Muscular Dystrophy Congenital Pomt1-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient with normal cognition has been reported


HPO:

32
muscular dystrophy-dystroglycanopathy , type b, 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

OMIM : 57 Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). (613155)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type B, 1, also known as congenital muscular dystrophy-dystroglycanopathy with mental retardation, type b1, is related to muscular dystrophy-dystroglycanopathy , type b, 5 and muscular dystrophy-dystroglycanopathy , type b, 6, and has symptoms including facial paresis An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type B, 1 is POMT1 (Protein O-Mannosyltransferase 1). Affiliated tissues include brain and eye, and related phenotypes are macroglossia and microcephaly

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1: 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, 1

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

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type b, 5 10.9
2 muscular dystrophy-dystroglycanopathy , type b, 6 10.9
3 muscular dystrophy-dystroglycanopathy , type c, 1 10.9
4 muscular dystrophy-dystroglycanopathy , type b, 3 10.9
5 muscular dystrophy-dystroglycanopathy , type b, 4 10.9
6 muscular dystrophy-dystroglycanopathy , type b, 2 10.9
7 muscular dystrophy-dystroglycanopathy , type b, 14 10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type B, 1

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
macroglossia

Muscle Soft Tissue:
inability to walk
muscle biopsy shows dystrophic changes
hypotonia at birth
muscle pseudohypertrophy
decreased glycosylation of alpha-dystroglycan (dag1, )

Skeletal:
joint contractures

Head And Neck Face:
facial weakness

Cardiovascular Heart:
cardiomyopathy (reported in 1 patient)
left ventricular dysfunction (reported in 1 patient)

Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar dysplasia
enlarged cisterna magna
mental retardation, severe
delayed psychomotor development
more
Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Eyes:
retinal dystrophy (reported in 1 patient)
myopia (less common)
congenital cataracts (reported in 1 patient)


Clinical features from OMIM:

613155

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 macroglossia 32 HP:0000158
2 microcephaly 32 HP:0000252
3 congenital cataract 32 occasional (7.5%) HP:0000519
4 myopia 32 occasional (7.5%) HP:0000545
5 retinal dystrophy 32 occasional (7.5%) HP:0000556
6 global developmental delay 32 HP:0001263
7 cerebellar hypoplasia 32 HP:0001321
8 absent speech 32 HP:0001344
9 flexion contracture 32 HP:0001371
10 cardiomyopathy 32 occasional (7.5%) HP:0001638
11 hypoplasia of the corpus callosum 32 HP:0002079
12 enlarged cisterna magna 32 HP:0002280
13 inability to walk 32 HP:0002540
14 elevated serum creatine phosphokinase 32 HP:0003236
15 muscular dystrophy 32 HP:0003560
16 congenital muscular dystrophy 32 HP:0003741
17 cerebellar dysplasia 32 HP:0007033
18 facial palsy 32 HP:0010628
19 intellectual disability, severe 32 HP:0010864

UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:


facial paresis

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

# Genetic test Affiliating Genes
1 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation, Type B1 29 POMT1

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

41
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

75
# Symbol AA change Variation ID SNP ID
1 POMT1 p.Ser537Arg VAR_026697 rs150367385
2 POMT1 p.Gly65Arg VAR_065027 rs119462983
3 POMT1 p.Trp582Cys VAR_065034 rs119462984
4 POMT1 p.Gln590His VAR_065035 rs119462986
5 POMT1 p.Ala669Thr VAR_065036 rs119462987

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1:

6
(show top 50) (show all 143)
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT1 NM_007171.3(POMT1): c.1746G> C (p.Trp582Cys) single nucleotide variant Pathogenic rs119462984 GRCh37 Chromosome 9, 134395562: 134395562
2 POMT1 NM_007171.3(POMT1): c.1746G> C (p.Trp582Cys) single nucleotide variant Pathogenic rs119462984 GRCh38 Chromosome 9, 131520175: 131520175
3 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
4 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh38 Chromosome 9, 131509801: 131509801
5 POMT1 NM_007171.3(POMT1): c.193G> A (p.Gly65Arg) single nucleotide variant Pathogenic rs119462983 GRCh37 Chromosome 9, 134381571: 134381571
6 POMT1 NM_007171.3(POMT1): c.193G> A (p.Gly65Arg) single nucleotide variant Pathogenic rs119462983 GRCh38 Chromosome 9, 131506184: 131506184
7 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh37 Chromosome 9, 134394332: 134394332
8 POMT1 NM_007171.3(POMT1): c.1540C> T (p.Arg514Ter) single nucleotide variant Pathogenic rs119462985 GRCh38 Chromosome 9, 131518945: 131518945
9 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh37 Chromosome 9, 134396738: 134396738
10 POMT1 NM_007171.3(POMT1): c.1770G> C (p.Gln590His) single nucleotide variant Pathogenic rs119462986 GRCh38 Chromosome 9, 131521351: 131521351
11 POMT1 POMT1, ARG541TER undetermined variant Pathogenic
12 POMT1 POMT1, GLN590HIS undetermined variant Pathogenic
13 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
14 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh38 Chromosome 9, 131522160: 131522160
15 POMT1 POMT1, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
16 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh37 Chromosome 9, 134398428: 134398429
17 POMT1 NM_007171.3(POMT1): c.2179_2180delTC (p.Ser727Alafs) deletion Pathogenic rs587777819 GRCh38 Chromosome 9, 131523041: 131523042
18 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
19 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh38 Chromosome 9, 131523029: 131523029
20 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh37 Chromosome 9, 134388630: 134388630
21 POMT1 NM_007171.3(POMT1): c.1153C> T (p.Gln385Ter) single nucleotide variant Pathogenic rs200056620 GRCh38 Chromosome 9, 131513243: 131513243
22 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh38 Chromosome 9, 131519447: 131519447
23 POMT1 NM_007171.3(POMT1): c.1611C> G (p.Ser537Arg) single nucleotide variant Benign/Likely benign rs150367385 GRCh37 Chromosome 9, 134394834: 134394834
24 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh37 Chromosome 9, 134395580: 134395580
25 POMT1 NM_007171.3(POMT1): c.1764C> T (p.Ser588=) single nucleotide variant Conflicting interpretations of pathogenicity rs150814269 GRCh38 Chromosome 9, 131520193: 131520193
26 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh37 Chromosome 9, 134397500: 134397500
27 POMT1 NM_007171.3(POMT1): c.1958C> T (p.Pro653Leu) single nucleotide variant Pathogenic/Likely pathogenic rs149682171 GRCh38 Chromosome 9, 131522113: 131522113
28 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh37 Chromosome 9, 134379647: 134379647
29 POMT1 NM_007171.3(POMT1): c.42C> T (p.Asp14=) single nucleotide variant Conflicting interpretations of pathogenicity rs150937126 GRCh38 Chromosome 9, 131504260: 131504260
30 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh37 Chromosome 9, 134398412: 134398412
31 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs138902646 GRCh38 Chromosome 9, 131523025: 131523025
32 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh37 Chromosome 9, 134386863: 134386863
33 POMT1 NM_007171.3(POMT1): c.1052+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202095070 GRCh38 Chromosome 9, 131511476: 131511476
34 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh38 Chromosome 9, 131522987: 131522987
35 POMT1 NM_007171.3(POMT1): c.2125G> A (p.Ala709Thr) single nucleotide variant Uncertain significance rs535544133 GRCh37 Chromosome 9, 134398374: 134398374
36 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh38 Chromosome 9, 131523095: 131523095
37 POMT1 NM_007171.3(POMT1): c.2233C> T (p.Arg745Ter) single nucleotide variant Uncertain significance rs202202445 GRCh37 Chromosome 9, 134398482: 134398482
38 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh38 Chromosome 9, 131523106: 131523106
39 POMT1 NM_007171.3(POMT1): c.2244G> A (p.Ter748=) single nucleotide variant Conflicting interpretations of pathogenicity rs147143094 GRCh37 Chromosome 9, 134398493: 134398493
40 POMT1 NM_007171.3(POMT1): c.2126C> T (p.Ala709Val) single nucleotide variant Benign/Likely benign rs138171526 GRCh37 Chromosome 9, 134398375: 134398375
41 POMT1 NM_007171.3(POMT1): c.2126C> T (p.Ala709Val) single nucleotide variant Benign/Likely benign rs138171526 GRCh38 Chromosome 9, 131522988: 131522988
42 POMT1 NM_007171.3(POMT1): c.568C> T (p.Leu190=) single nucleotide variant Conflicting interpretations of pathogenicity rs752931210 GRCh37 Chromosome 9, 134385158: 134385158
43 POMT1 NM_007171.3(POMT1): c.568C> T (p.Leu190=) single nucleotide variant Conflicting interpretations of pathogenicity rs752931210 GRCh38 Chromosome 9, 131509771: 131509771
44 POMT1 NM_007171.3(POMT1): c.1215C> T (p.His405=) single nucleotide variant Conflicting interpretations of pathogenicity rs202121299 GRCh37 Chromosome 9, 134388692: 134388692
45 POMT1 NM_007171.3(POMT1): c.1215C> T (p.His405=) single nucleotide variant Conflicting interpretations of pathogenicity rs202121299 GRCh38 Chromosome 9, 131513305: 131513305
46 POMT1 NM_007171.3(POMT1): c.934C> T (p.Arg312Trp) single nucleotide variant Uncertain significance rs886042627 GRCh37 Chromosome 9, 134386736: 134386736
47 POMT1 NM_007171.3(POMT1): c.934C> T (p.Arg312Trp) single nucleotide variant Uncertain significance rs886042627 GRCh38 Chromosome 9, 131511349: 131511349
48 POMT1 NM_007171.3(POMT1): c.1998C> T (p.Tyr666=) single nucleotide variant Benign/Likely benign rs146512619 GRCh37 Chromosome 9, 134397540: 134397540
49 POMT1 NM_007171.3(POMT1): c.1998C> T (p.Tyr666=) single nucleotide variant Benign/Likely benign rs146512619 GRCh38 Chromosome 9, 131522153: 131522153
50 POMT1 NM_007171.3(POMT1): c.1192G> A (p.Gly398Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs146869947 GRCh37 Chromosome 9, 134388669: 134388669

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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