MCID: MSC104
MIFTS: 36
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Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Categories:
Genetic diseases, Rare diseases, Fetal diseases, Eye diseases, Mental diseases, Muscle diseases, Neuronal diseases, Metabolic diseases
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MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Eye diseases Mental diseases Muscle diseases Neuronal diseases
ICD10:
32
33
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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). |
Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:609308Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:31 (show all 13)
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1:38
Brain,
Eye
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:71
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 1:6
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Search
GEO
for disease gene expression data for 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:
Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 1 according to GeneCards Suite gene sharing:
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