Muscular Dystrophy-Dystroglycanopathy , Type B, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases Muscle diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613155

MedGen ⁴² C3150415

MeSH ⁴⁴ D009136

UMLS ⁷³ C3150415

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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.

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Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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

#	Related Disease	Score
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:

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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

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

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

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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

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

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

⁴¹

Brain, Eye

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Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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Genes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	POMT1	Protein O-Mannosyltransferase 1	Protein Coding	1300	Molecular basis known ⁵⁷ Pathogenic ⁶ Pathogenic/Likely pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹	16717220 16575835 11053679 (more) 19299310 22549409

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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

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Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type B, 1.

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Pathways for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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

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Sources for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

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

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

Drugs & Therapeutics 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:

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

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

Publications for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genes for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

Genes related to Muscular Dystrophy-Dystroglycanopathy , Type B, 1 (1 elite genes):

Variations for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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

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

Expression for Muscular Dystrophy-Dystroglycanopathy , Type B, 1

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