MDDGC1
MCID: MSC104
MIFTS: 37

Muscular Dystrophy-Dystroglycanopathy , Type C, 1 (MDDGC1) malady

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

Aliases & Descriptions for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 54 50 13
Lgmd2k 12 50 24 56 66
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 66
Mddgc1 12 24 66
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 66 29
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 66
Limb-Girdle Muscular Dystrophy - Intellectual Disability 50
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 609308
Disease Ontology 12 DOID:0110297
ICD10 33 G71.0
Orphanet 56 ORPHA86812
ICD10 via Orphanet 34 G71.0
MedGen 40 C1836373
MeSH 42 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

OMIM : 54 Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) represent... (609308) more...

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 1, also known as lgmd2k, is related to muscular dystrophy, limb-girdle, type 2a and muscular dystrophy-dystroglycanopathy , type c, 3, 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.

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).

UniProtKB/Swiss-Prot : 66 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.

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, limb-girdle, type 2a 10.9
2 muscular dystrophy-dystroglycanopathy , type c, 3 10.7
3 muscular dystrophy-dystroglycanopathy , type c, 14 10.7
4 muscular dystrophy-dystroglycanopathy , type c, 9 10.7
5 muscular dystrophy-dystroglycanopathy , type b, 1 10.7
6 muscular dystrophy-dystroglycanopathy , type c, 2 10.7
7 muscular dystrophy-dystroglycanopathy , type c, 5 10.7
8 dermatofibrosarcoma protuberans 10.0 POMT1 POMT2
9 muscular dystrophy, limb-girdle, type 1b 10.0 POMT1 POMT2
10 cone-rod dystrophy, prph2-related 10.0 POMT1 POMT2
11 chronic atrial and intestinal dysrhythmia 10.0 HNRNPDL TNPO3
12 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 10.0 HNRNPDL TNPO3
13 mandibuloacral dysplasia 9.9 HNRNPDL TNPO3
14 deafness, autosomal recessive 18b 9.9 POMT1 POMT2 TRAPPC11
15 glycogen storage disease 0, muscle 9.9 POMT1 POMT2
16 nephronophthisis 2, infantile 9.9 HNRNPDL POMT2 TRAPPC11
17 dentinogenesis imperfecta, shields type iii 9.8 HNRNPDL TNPO3 TRAPPC11
18 alk-positive large b-cell lymphoma 9.8 GMPPB POMT1 POMT2
19 cornelia de lange syndrome 4 9.8 HNRNPDL TNPO3 TRAPPC11
20 hypospadias 3, autosomal 9.8 HNRNPDL TNPO3 TRAPPC11
21 hydroa vacciniforme-like lymphoma 9.8 GMPPB POMT1 POMT2
22 asphyxiating thoracic dystrophy 9.8 GMPPB POMT1 POMT2
23 myasthenia gravis, limb-girdle 9.8 GMPPB POMT1 POMT2
24 autosomal dominant nonsyndromic deafness 9.8 GMPPB POMT1 POMT2
25 hypertrophic cardiomyopathy 21 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
26 spinal muscular atrophy, distal, autosomal recessive, 5 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
27 muscular dystrophy-dystroglycanopathy , type b, 14 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
28 rheumatoid arthritis, systemic juvenile 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
29 muscular dystrophy-dystroglycanopathy , type a, 9 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
30 orofacial cleft 13 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
31 short-rib thoracic dysplasia 8 with or without polydactyly 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
32 epileptic encephalopathy, early infantile, 4 9.2 GMPPB HNRNPDL POMT1 POMT2 TNPO3 TRAPPC11
33 dementia, frontotemporal 9.2 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 by clinical synopsis from OMIM:

609308

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 intellectual disability 32 HP:0001249
2 microcephaly 32 HP:0000252
3 flexion contracture 32 HP:0001371
4 elevated serum creatine phosphokinase 32 HP:0003236
5 cardiomyopathy 32 HP:0001638
6 difficulty walking 32 HP:0002355
7 spinal rigidity 32 HP:0003306
8 motor delay 32 HP:0001270
9 muscular dystrophy 32 HP:0003560
10 lumbar hyperlordosis 32 HP:0002938
11 easy fatigability 32 HP:0003388
12 difficulty climbing stairs 32 HP:0003551
13 limb-girdle muscle weakness 32 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:

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:

66
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 glycosylation GO:0006486 9.37 POMT1 POMT2
2 protein O-linked glycosylation GO:0006493 9.32 POMT1 POMT2
3 mannosylation GO:0097502 9.26 POMT1 POMT2
4 protein O-linked mannosylation GO:0035269 9.16 POMT1 POMT2
5 ER-associated misfolded protein catabolic process GO:0071712 8.96 POMT1 POMT2
6 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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