Phenotype: Abnormal muscle tissue metabolite concentration (HP:0034370)
Associated genes and diseases:
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
gene_symbol: PFKM
disease_id: ORPHA:371
disease_name: Glycogen storage disease due to muscle phosphofructokinase deficiency
GSD due to muscle phosphofructokinase deficiency
GSD type 7
GSD type VII
Glycogen storage disease type 7
Glycogen storage disease type VII
Glycogenosis due to muscle phosphofructokinase deficiency
Glycogenosis type 7
Glycogenosis type VII
Tarui disease
gene_symbol: PHKB
disease_id: OMIM:261750
disease_name: GLYCOGEN STORAGE DISEASE IXb
gene_symbol: ENO3
disease_id: OMIM:612932
disease_name: GLYCOGEN STORAGE DISEASE XIII
gene_symbol: PHKA1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
gene_symbol: PHKA1
disease_id: OMIM:300559
disease_name: GLYCOGEN STORAGE DISEASE, TYPE IXd
gene_symbol: PHKG1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
gene_symbol: PYGM
disease_id: ORPHA:368
disease_name: Glycogen storage disease due to muscle glycogen phosphorylase deficiency
GSD due to muscle glycogen phosphorylase deficiency
GSD type 5
GSD type V
Glycogen storage disease type 5
Glycogen storage disease type V
Glycogenosis due to muscle glycogen phosphorylase deficiency
Glycogenosis type 5
Glycogenosis type V
McArdle disease
Myophosphorylase deficiency
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:609
disease_name: Tibial muscular dystrophy
Distal myopathy, Udd type
Distal titinopathy
Finnish tibial muscular dystrophy
TMD
Udd myopathy
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: PNPLA2
disease_id: ORPHA:565612
disease_name: Primary triglyceride deposit cardiomyovasculopathy
Neutral lipid storage disease with severe cardiovascular involvement
TGCV
gene_symbol: PNPLA2
disease_id: OMIM:610717
disease_name: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
gene_symbol: MT-TE
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: TRMU
disease_id: ORPHA:254864
disease_name: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Benign COX deficiency
Infantile reversible cytochrome C oxidase deficiency myopathy
Mitochondrial myopathy with reversible COX deficiency
Mitochondrial myopathy with reversible complex IV deficiency
Reversible infantile cytochrome C oxidase deficiency
Reversible infantile respiratory chain deficiency
gene_symbol: COL12A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A1
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A2
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:610
disease_name: Bethlem muscular dystrophy
Bethlem myopathy
LGMD D5 collagen 6-related dystrophy
LGMD D5 collagen VI-related dystrophy
LGMD R22 collagen 6-related dystrophy
LGMD R22 collagen VI-related dystrophy
Mild form of COL6-related dystrophy
Mild form of collagen VI-related dystrophy
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: 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: 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
gene_symbol: GYS1
disease_id: OMIM:611556
disease_name: GLYCOGEN STORAGE DISEASE 0, MUSCLE
gene_symbol: GYG1
disease_id: ORPHA:263297
disease_name: Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
GSD type 15
GSD type XV
GSD with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease type 15
Glycogen storage disease type XV
Glycogenosis type 15
Glycogenosis type XV
Glycogenosis with severe cardiomyopathy due to glycogenin deficiency
gene_symbol: PHKA2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: PHKG2
disease_id: ORPHA:264580
disease_name: Glycogen storage disease due to liver phosphorylase kinase deficiency
GSD due to liver phosphorylase kinase deficiency
GSD type 9A
GSD type 9C
GSD type IXa
GSD type IXc
Glycogen storage disease type 9A
Glycogen storage disease type 9C
Glycogen storage disease type IXa
Glycogen storage disease type IXc
Glycogenosis due to liver phosphorylase kinase deficiency
Glycogenosis type 9A
Glycogenosis type 9C
Glycogenosis type IXa
Glycogenosis type IXc
XLG
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
gene_symbol: COQ9
disease_id: OMIM:614654
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 5
gene_symbol: PDSS2
disease_id: OMIM:614652
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 3
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7