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MDDGC5
MCID: MSC036
MIFTS: 62
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Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (MDDGC5)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:
Characteristics:Orphanet epidemiological data:60
autosomal recessive limb-girdle muscular dystrophy type 2i
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable severity some patients become wheelchair-bound variable age of onset (range 1-40 years) most common mutation is leu276ile HPO:33
muscular dystrophy-dystroglycanopathy , type c, 5:
Onset and clinical course variable expressivity Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Muscle diseases Eye diseases Mental diseases
ICD10:
34
35
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NIH Rare Diseases
:
54
Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.
MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as lgmd2i, is related to myositis and muscular dystrophy, becker type, and has symptoms including waddling gait, myalgia and muscle cramp. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (Fukutin Related Protein), and among its related pathways/superpathways are Striated Muscle Contraction and Mannose type O-glycan biosynthesis. The drugs Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are proximal muscle weakness and muscular dystrophy Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. OMIM : 58 MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). (607155) UniProtKB/Swiss-Prot : 76 Muscular dystrophy-dystroglycanopathy limb-girdle C5: An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha- dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients. |
Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:60 33 (show all 33)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:607155UMLS symptoms related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:waddling gait, myalgia, muscle cramp MGI Mouse Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:47
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Drugs for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:
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MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:42
Brain,
Skeletal Muscle,
Eye,
Testes,
Tongue,
Heart
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Articles related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:(show all 39)
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Genes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:76 (show all 19)
ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:6 (show top 50) (show all 172)
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Search
GEO
for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.
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Cellular components related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:
Biological processes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 according to GeneCards Suite gene sharing:
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