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LSMFLAD
MCID: LPD042
MIFTS: 19
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Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (LSMFLAD)
Categories:
Genetic diseases, Metabolic diseases
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MalaCards integrated aliases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
highly variable phenotype some patients present in infancy with a severe disorder that may result in early death some patients have adult-onset of myopathy some patients may respond well to riboflavin supplementation HPO:32
lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot
:
75
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency: An autosomal recessive, inborn error of metabolism characterized by variable mitochondrial dysfunction. Clinical features range from severe cardiac and respiratory insufficiency with onset in infancy and resulting in early death, to mild muscle weakness with onset in adulthood. Some patients show significant improvement with riboflavin treatment. Analysis of skeletal muscle show multiple mitochondrial respiratory chain deficiency and a lipid storage myopathy in most patients.
MalaCards based summary : Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency, is also known as lsmflad. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1). Affiliated tissues include skeletal muscle, and related phenotypes are dysphagia and respiratory insufficiency OMIM : 57 Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). (255100) |
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:255100Human phenotypes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:32 (show all 13)
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MalaCards organs/tissues related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:41
Skeletal Muscle
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Genes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:75
ClinVar genetic disease variations for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:6 (show all 12)
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Search
GEO
for disease gene expression data for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency.
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