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
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes

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

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

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52 48 12
Lgmd2k 11 48 24 54 70
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 11 48 54 13
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome 11 48 54
Limb-Girdle Muscular Dystrophy Type 2k 48 24 70
Mddgc1 11 24 70
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1 70 27
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy with Mental Retardation 70
Limb-Girdle Muscular Dystrophy - Intellectual Disability 48
Muscular Dystrophy-Dystroglycanopathy Type C 1 11
Muscular Dystrophy-Dystroglycanopathy Type C1 24
Muscular Dystrophy, Limb-Girdle, Type 2k 68
Muscular Dystrophy Limb-Girdle Type 2k 11
Lgmd 2k 24

Characteristics:

Orphanet epidemiological data:

54
lgmd2k:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

64
muscular dystrophy-dystroglycanopathy , type c, 1:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, slow progression, variable expressivity

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Muscle diseases, Mental diseases, Eye diseases
See all MalaCards categories (disease lists)
ICD10: 31 30
Orphanet: 54 
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM52 609308
Disease Ontology11 DOID:0110297
ICD1030 G71.0
Orphanet54 ORPHA86812
ICD10 via Orphanet31 G71.0
MedGen37 C1836373
MeSH39 D049288

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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OMIM:52 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 microcephaly, intellectual disability and motor delay. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1 is POMT1 (Protein O-Mannosyltransferase 1), and among its related pathways are Mannose type O-glycan biosynthesis and Other types of O-glycan biosynthesis. Affiliated tissues include brain and eye.

Disease Ontology:11 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:70 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2a10.9
2muscular dystrophy-dystroglycanopathy , type c, 310.7
3muscular dystrophy-dystroglycanopathy , type c, 1410.7
4muscular dystrophy-dystroglycanopathy , type c, 910.7
5muscular dystrophy-dystroglycanopathy , type b, 110.7
6muscular dystrophy-dystroglycanopathy , type c, 210.7
7muscular dystrophy-dystroglycanopathy , type c, 510.7
8dermatofibrosarcoma protuberans10.0POMT1, POMT2
9muscular dystrophy, limb-girdle, type 1b10.0POMT1, POMT2
10cone-rod dystrophy, prph2-related10.0POMT1, POMT2
11chronic atrial and intestinal dysrhythmia10.0HNRNPDL, TNPO3
12osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures10.0HNRNPDL, TNPO3
13mandibuloacral dysplasia9.9HNRNPDL, TNPO3
14deafness, autosomal recessive 18b9.9POMT1, POMT2, TRAPPC11
15glycogen storage disease 0, muscle9.9POMT1, POMT2
16nephronophthisis 2, infantile9.9HNRNPDL, POMT2, TRAPPC11
17dentinogenesis imperfecta, shields type iii9.8HNRNPDL, TNPO3, TRAPPC11
18alk-positive large b-cell lymphoma9.8GMPPB, POMT1, POMT2
19cornelia de lange syndrome 49.8HNRNPDL, TNPO3, TRAPPC11
20hypospadias 3, autosomal9.8HNRNPDL, TNPO3, TRAPPC11
21hydroa vacciniforme-like lymphoma9.8GMPPB, POMT1, POMT2
22asphyxiating thoracic dystrophy9.8GMPPB, POMT1, POMT2
23myasthenia gravis, limb-girdle9.8GMPPB, POMT1, POMT2
24autosomal dominant nonsyndromic deafness9.8GMPPB, POMT1, POMT2
25hypertrophic cardiomyopathy 219.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
26spinal muscular atrophy, distal, autosomal recessive, 59.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
27muscular dystrophy-dystroglycanopathy , type b, 149.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
28rheumatoid arthritis, systemic juvenile9.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
29muscular dystrophy-dystroglycanopathy , type a, 99.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
30orofacial cleft 139.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
31short-rib thoracic dysplasia 8 with or without polydactyly9.5GMPPB, HNRNPDL, TNPO3, TRAPPC11
32epileptic encephalopathy, early infantile, 49.2GMPPB, HNRNPDL, POMT1, POMT2, TNPO3, TRAPPC11
33dementia, frontotemporal9.2GMPPB, 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

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Symptoms by clinical synopsis from OMIM:

609308

Clinical features from OMIM:

609308

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 intellectual disability64 HP:0001249
3 motor delay64 HP:0001270
4 flexion contracture64 HP:0001371
5 cardiomyopathy64 HP:0001638
6 difficulty walking64 HP:0002355
7 lumbar hyperlordosis64 HP:0002938
8 elevated serum creatine phosphokinase64 HP:0003236
9 spinal rigidity64 HP:0003306
10 limb-girdle muscle weakness64 HP:0003325
11 easy fatigability64 HP:0003388
12 difficulty climbing stairs64 HP:0003551
13 muscular dystrophy64 HP:0003560

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C127
2 Limb-Girdle Muscular Dystrophy Type 2k24

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

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

36
Brain, Eye

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

70
id Symbol AA change Variation ID SNP ID
1POMT1p.Ala200ProVAR_022661rs119462982

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1POMT1NM_ 007171.3(POMT1): c.1723delC (p.Leu575Trpfs)deletionPathogenicrs794727190GRCh37Chr 9, 134395539: 134395539
2POMT1NM_ 007171.3(POMT1): c.1864C> T (p.Arg622Ter)SNVPathogenicrs794727208GRCh37Chr 9, 134396832: 134396832
3POMT1NM_ 007171.3(POMT1): c.2163C> A (p.Tyr721Ter)SNVPathogenicrs138902646GRCh37Chr 9, 134398412: 134398412
4POMT1NM_ 007171.3(POMT1): c.598G> C (p.Ala200Pro)SNVPathogenicrs119462982GRCh37Chr 9, 134385188: 134385188
5POMT1NM_ 007171.3(POMT1): c.2005G> A (p.Ala669Thr)SNVPathogenicrs119462987GRCh37Chr 9, 134397547: 134397547
6POMT1NM_ 007171.3(POMT1): c.430A> G (p.Asn144Asp)SNVPathogenicrs397514501GRCh37Chr 9, 134384300: 134384300
7POMT1NM_ 007171.3(POMT1): c.1241C> T (p.Thr414Met)SNVPathogenicrs397515400GRCh37Chr 9, 134388718: 134388718

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

idSuper pathwaysScoreTop Affiliating Genes
1
Mannose type O-glycan biosynthesis34
9.6POMT1, POMT2
2
Other types of O-glycan biosynthesis34
9.6POMT1, POMT2

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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

idNameGO IDScoreTop Affiliating Genes
1ER-associated misfolded protein catabolic processGO:007171210.2POMT1, POMT2
2mannosylationGO:009750210.2POMT1, POMT2
3positive regulation of protein O-linked glycosylationGO:190410010.2POMT1, POMT2
4protein glycosylationGO:000648610.1POMT1, POMT2
5protein O-linked glycosylationGO:00064939.9POMT1, POMT2
6protein O-linked mannosylationGO:00352699.6POMT1, POMT2

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

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00041699.6POMT1, POMT2

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z