MCID: MSC104
MIFTS: 36

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Categories: Genetic diseases, Rare diseases, Fetal diseases, Eye diseases, Mental diseases, Muscle diseases, Neuronal diseases, Metabolic 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 53 49 13
Lgmd2k 53 12 49 55 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 49 55 14
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 12 49 55
Mddgc1 53 12 71
Muscular Dystrophy, Limb-Girdle, Type 2k 53 69
Limb-Girdle Muscular Dystrophy Type 2k 49 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 71
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 28
Limb-Girdle Muscular Dystrophy - Intellectual Disability 49
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 71
Muscular Dystrophy, Limb-Girdle, Type 2k; Lgmd2k 53
Muscular Dystrophy-Dystroglycanopathy Type C 1 12
Muscular Dystrophy Limb-Girdle Type 2k 12

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive limb-girdle muscular dystrophy type 2k
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
muscular dystrophy-dystroglycanopathy , type c, 1:
Onset and clinical course variable expressivity infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 609308
Disease Ontology 12 DOID:0110297
ICD10 32 G71.0
Orphanet 55 ORPHA86812
UMLS via Orphanet 70 C1836373
ICD10 via Orphanet 33 G71.0
MedGen 39 C1836373
MeSH 41 D049288
UMLS 69 C1836373

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 53 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, 9 and muscular dystrophy-dystroglycanopathy , type c, 14, and has symptoms including intellectual disability, microcephaly and flexion contracture. 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, 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 C, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type c, 9 29.8 GMPPB HNRNPDL TNPO3 TRAPPC11
2 muscular dystrophy-dystroglycanopathy , type c, 14 29.8 GMPPB HNRNPDL TNPO3 TRAPPC11
3 muscular dystrophy-dystroglycanopathy , type c, 3 29.8 GMPPB HNRNPDL TNPO3 TRAPPC11
4 muscular dystrophy-dystroglycanopathy , type c, 2 28.9 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
5 muscular dystrophy-dystroglycanopathy , type c, 5 10.9
6 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 1 10.1 POMT1 POMT2
8 muscular dystrophy-dystroglycanopathy , type b, 6 10.0 POMT1 POMT2
9 muscular dystrophy-dystroglycanopathy , type a, 4 9.9 POMT1 POMT2
10 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 POMT1 POMT2
11 congenital muscular dystrophy with intellectual disability 9.8 GMPPB POMT1 POMT2
12 congenital muscular dystrophy with cerebellar involvement 9.8 GMPPB POMT1 POMT2
13 muscular dystrophy, limb-girdle, type 2l 9.8 POMT1 POMT2 TRAPPC11
14 muscular dystrophy-dystroglycanopathy 9.7 GMPPB POMT1 POMT2
15 muscle eye brain disease 9.7 GMPPB POMT1 POMT2
16 muscular dystrophy, congenital, lmna-related 9.7 POMT1 POMT2
17 walker-warburg syndrome 9.7 GMPPB POMT1 POMT2
18 muscular dystrophy, limb-girdle, type 1h 9.7 HNRNPDL TNPO3
19 muscular dystrophy-dystroglycanopathy , type c, 4 9.6 HNRNPDL POMT2 TRAPPC11
20 autosomal dominant limb-girdle muscular dystrophy type 1c 9.6 HNRNPDL TNPO3
21 muscular dystrophy, limb-girdle, type 1b 9.6 HNRNPDL TNPO3
22 autosomal dominant limb-girdle muscular dystrophy type 1g 9.4 HNRNPDL TNPO3 TRAPPC11
23 muscular dystrophy, limb-girdle, type 2q 9.3 HNRNPDL TNPO3 TRAPPC11
24 muscular dystrophy, limb-girdle, type 1f 9.3 HNRNPDL TNPO3 TRAPPC11
25 autosomal recessive limb-girdle muscular dystrophy type 2e 9.3 HNRNPDL TNPO3 TRAPPC11
26 muscular dystrophy, limb-girdle, type 2w 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy, limb-girdle, type 2r 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
28 muscular dystrophy-dystroglycanopathy , type c, 7 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
29 muscular dystrophy, limb-girdle, type 1e 9.0 GMPPB HNRNPDL TNPO3 TRAPPC11
30 muscular dystrophy 8.3 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:

53
HeadAndNeckHead:
microcephaly

NeurologicCentralNervousSystem:
delayed motor development
mental retardation, mild to moderate (in some patients)
no structural brain abnormalities seen on mri

LaboratoryAbnormalities:
increased serum creatine kinase

Skeletal:
joint contractures, mild

MuscleSoftTissue:
easy fatigability
muscle biopsy shows dystrophic changes
muscular weakness, limb-girdle
difficulty walking, running, climbing stairs
muscle pseudohypertrophy
more
SkeletalSpine:
lumbar lordosis
rigid spine

CardiovascularHeart:
cardiomyopathy (reported in 2 patients)


Clinical features from OMIM:

609308

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 flexion contracture 31 HP:0001371
4 elevated serum creatine phosphokinase 31 HP:0003236
5 cardiomyopathy 31 occasional (7.5%) HP:0001638
6 difficulty walking 31 HP:0002355
7 spinal rigidity 31 HP:0003306
8 motor delay 31 HP:0001270
9 muscular dystrophy 31 HP:0003560
10 lumbar hyperlordosis 31 HP:0002938
11 difficulty climbing stairs 31 HP:0003551
12 easy fatigability 31 HP:0003388
13 limb-girdle muscle weakness 31 HP:0003325

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:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1 28 POMT1

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

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

38
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
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 POMT1 NM_007171.3(POMT1): c.430A> G (p.Asn144Asp) single nucleotide variant Pathogenic rs397514501 GRCh37 Chromosome 9, 134384300: 134384300
2 POMT1 NM_007171.3(POMT1): c.1241C> T (p.Thr414Met) single nucleotide variant Pathogenic rs397515400 GRCh37 Chromosome 9, 134388718: 134388718
3 POMT1 NM_007171.3(POMT1): c.1723delC (p.Leu575Trpfs) deletion Pathogenic rs794727190 GRCh37 Chromosome 9, 134395539: 134395539
4 POMT1 NM_007171.3(POMT1): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic rs794727208 GRCh37 Chromosome 9, 134396832: 134396832
5 POMT1 NM_007171.3(POMT1): c.598G> C (p.Ala200Pro) single nucleotide variant Pathogenic rs119462982 GRCh37 Chromosome 9, 134385188: 134385188
6 POMT1 NM_007171.3(POMT1): c.2005G> A (p.Ala669Thr) single nucleotide variant Pathogenic rs119462987 GRCh37 Chromosome 9, 134397547: 134397547
7 POMT1 NM_007171.3(POMT1): c.2167dupG (p.Asp723Glyfs) duplication Pathogenic rs398124245 GRCh37 Chromosome 9, 134398416: 134398416
8 POMT1 NM_007171.3(POMT1): c.1427T> G (p.Leu476Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 134393920: 134393920

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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....