|
MCID: LPD042
MIFTS: 30
|
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency
Categories:
Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:
Characteristics:Orphanet epidemiological data:59
multiple acyl-coa dehydrogenase deficiency, severe neonatal type
Age of onset: Infancy,Neonatal; 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:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases
ICD10:
34
|
|
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, also known as lsmflad, is related to chanarin-dorfman syndrome and riboflavin deficiency. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1), and among its related pathways/superpathways is Metabolism. Affiliated tissues include skeletal muscle, and related phenotypes are generalized hypotonia and cardiomyopathy 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) |
Diseases related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
|
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)
|
|
|
MalaCards organs/tissues related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency:41
Skeletal Muscle
|
Genes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (5 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
|
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
|
|
Search
GEO
for disease gene expression data for Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency.
|
Cellular components related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency according to GeneCards Suite gene sharing:
|
|