MCID: MSC104
MIFTS: 38

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 54 50 13
Lgmd2k 12 50 24 56 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 50 56 14
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 12 50 56
Limb-Girdle Muscular Dystrophy Type 2k 50 24 71
Mddgc1 12 24 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 71
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29
Limb-Girdle Muscular Dystrophy - Intellectual Disability 50
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 71
Muscular Dystrophy-Dystroglycanopathy Type C 1 12
Muscular Dystrophy-Dystroglycanopathy Type C1 24
Muscular Dystrophy, Limb-Girdle, Type 2k 69
Muscular Dystrophy Limb-Girdle Type 2k 12
Lgmd 2k 24

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive limb-girdle muscular dystrophy type 2k
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
onset in infancy or early childhood (birth to 6 years)


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 1:
Onset and clinical course variable expressivity slow progression infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 54
Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital 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 the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, 613155). (609308)

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy-dystroglycanopathy , type c, 3 and muscular dystrophy-dystroglycanopathy , type c, 14, and has symptoms including spinal rigidity, microcephaly and lumbar hyperlordosis. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways/superpathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 71 Muscular dystrophy-dystroglycanopathy limb-girdle C1: An autosomal recessive degenerative myopathy associated with mild mental retardation without any obvious structural brain abnormality. An abnormal alpha-dystroglycan pattern in observed in the muscle.

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

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

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 3
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 Muscular Dystrophy-Dystroglycanopathy , Type B, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 Muscular Dystrophy-Dystroglycanopathy , Type a, 1
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 Muscular Dystrophy-Dystroglycanopathy , Type C, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

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

(show all 33)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 3 29.2 GMPPB HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy-dystroglycanopathy , type c, 14 10.8
3 muscular dystrophy-dystroglycanopathy , type c, 9 10.8
4 muscular dystrophy-dystroglycanopathy , type b, 1 10.8
5 muscular dystrophy-dystroglycanopathy , type c, 2 10.8
6 muscular dystrophy-dystroglycanopathy , type c, 5 10.8
7 dermatofibrosarcoma protuberans 10.1 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type b, 4 10.0 POMT1 POMT2
9 muscular dystrophy, congenital 10.0 POMT1 POMT2
10 complement component c2 deficiency 9.9 POMT1 POMT2
11 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 9.8 GMPPB POMT1 POMT2
12 intellectual disability-facial dysmorphism-hand anomalies syndrome 9.8 GMPPB POMT1 POMT2
13 miyoshi muscular dystrophy 3 9.7 POMT1 POMT2 TRAPPC11
14 tooth agenesis 9.7 GMPPB POMT1 POMT2
15 glycogen storage disease 0, muscle 9.7 POMT1 POMT2
16 muscular phosphorylase kinase deficiency 9.7 GMPPB POMT1 POMT2
17 nonsyndromic deafness 9.7 GMPPB POMT1 POMT2
18 chronic atrial and intestinal dysrhythmia 9.6 HNRNPDL TNPO3
19 muscular dystrophy, limb-girdle, type 1b 9.6 HNRNPDL TNPO3
20 hirschsprung disease 5 9.6 HNRNPDL POMT2 TRAPPC11
21 creatine phosphokinase, elevated serum 9.5 HNRNPDL TNPO3
22 dentinogenesis imperfecta, shields type ii 9.2 HNRNPDL TNPO3 TRAPPC11
23 epidermolysis bullosa simplex with nail dystrophy 9.2 HNRNPDL TNPO3 TRAPPC11
24 deafness, autosomal dominant 50 9.2 HNRNPDL TNPO3 TRAPPC11
25 muscular dystrophy, limb-girdle, type 2w 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
26 spinal muscular atrophy, distal, autosomal recessive, 5 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy-dystroglycanopathy , type a, 9 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
28 muscular dystrophy-dystroglycanopathy , type b, 14 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
29 ectodermal dysplasia-syndactyly syndrome 2 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
30 schizophrenia 16 8.7 GMPPB HNRNPDL TNPO3 TRAPPC11
31 neuropathy, hereditary sensory and autonomic, type viii 7.9 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
32 alzheimer disease, type 3 7.9 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
33 periodontosis 7.8 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11

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



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

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
delayed motor development
mental retardation, mild to moderate (in some patients)
no structural brain abnormalities seen on mri

Laboratory- Abnormalities:
increased serum creatine kinase

Skeletal- Spine:
rigid spine
lumbar lordosis

Skeletal:
joint contractures, mild

Head And Neck- Head:
microcephaly

Muscle Soft Tissue:
easy fatigability
muscle biopsy shows dystrophic changes
muscle pseudohypertrophy
decreased glycosylation of alpha-dystroglycan (dag1, )
muscular weakness, limb-girdle
more
Cardiovascular- Heart:
cardiomyopathy (reported in 2 patients)


Clinical features from OMIM:

609308

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

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 spinal rigidity 32 HP:0003306
2 microcephaly 32 HP:0000252
3 lumbar hyperlordosis 32 HP:0002938
4 muscular dystrophy 32 HP:0003560
5 difficulty climbing stairs 32 HP:0003551
6 intellectual disability 32 HP:0001249
7 cardiomyopathy 32 occasional (7.5%) HP:0001638
8 motor delay 32 HP:0001270
9 easy fatigability 32 HP:0003388
10 difficulty walking 32 HP:0002355
11 limb-girdle muscle weakness 32 HP:0003325
12 flexion contracture 32 HP:0001371
13 elevated serum creatine phosphokinase 32 HP:0003236

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

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 29
2 Limb-Girdle Muscular Dystrophy Type 2k 24

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

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

39
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

71
id Symbol AA change Variation ID SNP ID
1 POMT1 p.Ala200Pro VAR_022661 rs119462982

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
2 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
3 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh37 Chromosome 9, 134384300: 134384300
4 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh37 Chromosome 9, 134388718: 134388718
5 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh37 Chromosome 9, 134395539: 134395539
6 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
7 POMT1 NM_007171.3(POMT1): c.2163C> A (p.Tyr721Ter) single nucleotide variant Pathogenic rs138902646 GRCh37 Chromosome 9, 134398412: 134398412

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Pathways related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.32 POMT1 POMT2
2 9.97 POMT1 POMT2

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

Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
2 mannosylation GO:0097502 9.26 POMT1 POMT2
3 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
4 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
5 positive regulation of protein O-linked glycosylation GO:1904100 8.62 POMT1 POMT2

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 8.62 POMT1 POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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