Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated genes and diseases:
gene_symbol: COX6A2
disease_id: OMIM:619062
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: SCN4A
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: KCNE3
disease_id: ORPHA:681
disease_name: Hypokalemic periodic paralysis
Westphall disease
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: PNPLA2
disease_id: ORPHA:98908
disease_name: Neutral lipid storage disease with myopathy
Adipose triglyceride lipase deficiency
NLSDM
Neutral lipid storage disease type M
Neutral lipid storage disease with myopathy without ichthyosis
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: CHCHD10
disease_id: ORPHA:457050
disease_name: Autosomal dominant mitochondrial myopathy with exercise intolerance
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: MSTO1
disease_id: ORPHA:502423
disease_name: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: STAC3
disease_id: OMIM:255995
disease_name: MYOPATHY, CONGENITAL, BAILEY-BLOCH
gene_symbol: ISCU
disease_id: OMIM:255125
disease_name: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1