MDDGB1
MCID: MSC048
MIFTS: 28

Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (MDDGB1)

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, 1

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type B, 1 57 75 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 facial palsy and macroglossia

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 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

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 11.0
2 muscular dystrophy-dystroglycanopathy , type b, 6 11.0
3 muscular dystrophy-dystroglycanopathy , type c, 1 11.0
4 muscular dystrophy-dystroglycanopathy , type b, 3 11.0
5 muscular dystrophy-dystroglycanopathy , type b, 4 11.0
6 muscular dystrophy-dystroglycanopathy , type b, 2 11.0
7 muscular dystrophy-dystroglycanopathy , type b, 14 11.0

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

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 207)
# 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/Likely pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
14 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic/Likely 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.1299C> A (p.Asp433Glu) single nucleotide variant Benign/Likely benign rs11243406 GRCh37 Chromosome 9, 134390870: 134390870
23 POMT1 NM_007171.3(POMT1): c.1299C> A (p.Asp433Glu) single nucleotide variant Benign/Likely benign rs11243406 GRCh38 Chromosome 9, 131515483: 131515483
24 POMT1 NM_007171.3(POMT1): c.1482C> T (p.Val494=) single nucleotide variant Conflicting interpretations of pathogenicity rs139687326 GRCh37 Chromosome 9, 134394274: 134394274
25 POMT1 NM_007171.3(POMT1): c.1482C> T (p.Val494=) single nucleotide variant Conflicting interpretations of pathogenicity rs139687326 GRCh38 Chromosome 9, 131518887: 131518887
26 POMT1 NM_007171.3(POMT1): c.1565G> A (p.Arg522Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117985576 GRCh37 Chromosome 9, 134394788: 134394788
27 POMT1 NM_007171.3(POMT1): c.1565G> A (p.Arg522Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs117985576 GRCh38 Chromosome 9, 131519401: 131519401
28 POMT1 NM_007171.3(POMT1): c.2181G> A (p.Ser727=) single nucleotide variant Conflicting interpretations of pathogenicity rs76092524 GRCh37 Chromosome 9, 134398430: 134398430
29 POMT1 NM_007171.3(POMT1): c.2181G> A (p.Ser727=) single nucleotide variant Conflicting interpretations of pathogenicity rs76092524 GRCh38 Chromosome 9, 131523043: 131523043
30 POMT1 NM_007171.3(POMT1): c.2203C> T (p.Arg735Cys) single nucleotide variant Benign/Likely benign rs147266709 GRCh37 Chromosome 9, 134398452: 134398452
31 POMT1 NM_007171.3(POMT1): c.2203C> T (p.Arg735Cys) single nucleotide variant Benign/Likely benign rs147266709 GRCh38 Chromosome 9, 131523065: 131523065
32 POMT1 NM_007171.3(POMT1): c.751C> T (p.Arg251Trp) single nucleotide variant Benign/Likely benign rs3887873 GRCh37 Chromosome 9, 134385435: 134385435
33 POMT1 NM_007171.3(POMT1): c.751C> T (p.Arg251Trp) single nucleotide variant Benign/Likely benign rs3887873 GRCh38 Chromosome 9, 131510048: 131510048
34 POMT1 NM_007171.3(POMT1): c.752G> A (p.Arg251Gln) single nucleotide variant Benign rs2296949 GRCh37 Chromosome 9, 134385436: 134385436
35 POMT1 NM_007171.3(POMT1): c.752G> A (p.Arg251Gln) single nucleotide variant Benign rs2296949 GRCh38 Chromosome 9, 131510049: 131510049
36 POMT1 NM_007171.3(POMT1): c.957G> A (p.Leu319=) single nucleotide variant Benign/Likely benign rs76109289 GRCh37 Chromosome 9, 134386759: 134386759
37 POMT1 NM_007171.3(POMT1): c.957G> A (p.Leu319=) single nucleotide variant Benign/Likely benign rs76109289 GRCh38 Chromosome 9, 131511372: 131511372
38 POMT1 NM_007171.3(POMT1): c.979G> A (p.Val327Ile) single nucleotide variant Benign/Likely benign rs4740164 GRCh37 Chromosome 9, 134386781: 134386781
39 POMT1 NM_007171.3(POMT1): c.979G> A (p.Val327Ile) single nucleotide variant Benign/Likely benign rs4740164 GRCh38 Chromosome 9, 131511394: 131511394
40 POMT1 NM_007171.3(POMT1): c.1191C> T (p.His397=) single nucleotide variant Conflicting interpretations of pathogenicity rs35242383 GRCh37 Chromosome 9, 134388668: 134388668
41 POMT1 NM_007171.3(POMT1): c.1191C> T (p.His397=) single nucleotide variant Conflicting interpretations of pathogenicity rs35242383 GRCh38 Chromosome 9, 131513281: 131513281
42 POMT1 NM_007171.3(POMT1): c.1341A> G (p.Glu447=) single nucleotide variant Benign/Likely benign rs62620174 GRCh37 Chromosome 9, 134393834: 134393834
43 POMT1 NM_007171.3(POMT1): c.1341A> G (p.Glu447=) single nucleotide variant Benign/Likely benign rs62620174 GRCh38 Chromosome 9, 131518447: 131518447
44 POMT1 NM_007171.3(POMT1): c.1545C> T (p.Tyr515=) single nucleotide variant Benign rs62636653 GRCh37 Chromosome 9, 134394337: 134394337
45 POMT1 NM_007171.3(POMT1): c.1545C> T (p.Tyr515=) single nucleotide variant Benign rs62636653 GRCh38 Chromosome 9, 131518950: 131518950
46 POMT1 NM_007171.3(POMT1): c.1758G> A (p.Arg586=) single nucleotide variant Benign rs34954751 GRCh37 Chromosome 9, 134395574: 134395574
47 POMT1 NM_007171.3(POMT1): c.1758G> A (p.Arg586=) single nucleotide variant Benign rs34954751 GRCh38 Chromosome 9, 131520187: 131520187
48 POMT1 NM_007171.3(POMT1): c.1922C> T (p.Ala641Val) single nucleotide variant Benign/Likely benign rs12115566 GRCh37 Chromosome 9, 134397464: 134397464
49 POMT1 NM_007171.3(POMT1): c.1922C> T (p.Ala641Val) single nucleotide variant Benign/Likely benign rs12115566 GRCh38 Chromosome 9, 131522077: 131522077
50 POMT1 NM_007171.3(POMT1): c.78G> A (p.Gly26=) single nucleotide variant Conflicting interpretations of pathogenicity rs149554732 GRCh37 Chromosome 9, 134379683: 134379683

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

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