Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal skeletal muscle morphology (HP:0011805)help
..Starting node
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Rhabdomyolysis (HP:0003201)help
Term ID: 3201
Name: Rhabdomyolysis
Synonym: Breakdown of skeletal muscle
Definition: Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Comments:
Reference: HP:0003201
Genes and Diseases:
 
       Child Nodes:
........expandViral infection-induced rhabdomyolysis (HP:0003558) help
........expandAcute rhabdomyolysis (HP:0008942) help
........expandExercise-induced rhabdomyolysis (HP:0009045) help
........expandAnesthetic-induced rhabdomylosis (HP:0011439) help
........expandAlcohol-induced rhabdomyolysis (HP:0011440) help

 Sister Nodes: 
..expandAbnormal muscle fiber morphology (HP:0004303) help
..expandAbnormality of muscle size (HP:0030236) help
..expandCalcinosis (HP:0003761) help
..expandDecreased muscle mass (HP:0003199) help
..expandFatty replacement of skeletal muscle (HP:0012548) help
..expandFirm muscles (HP:0003725) help
..expandFlexion contracture (HP:0001371) help
..expandGeneralized muscular appearance from birth (HP:0003716) help
..expandIntramuscular hematoma (HP:0012233) help
..expandLevator palpebrae superioris atrophy (HP:0012241) help
..expandMuscular dystrophy (HP:0003560) help
..expandMuscular edema (HP:0100748) help
..expandMyopathy (HP:0003198) help
..expandMyositis (HP:0100614) help
..expandSkeletal muscle fibrosis (HP:0030951) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003201HP:0003201Rhabdomyolysis0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0003201HP:0003201Rhabdomyolysis0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0003201HP:0003201Rhabdomyolysis0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0003201HP:0003201Rhabdomyolysis0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0003201HP:0003201Rhabdomyolysis0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0003201HP:0003201Rhabdomyolysis0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040284 - Very rare304
HP:0003201HP:0003201Rhabdomyolysis0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0003201HP:0003201Rhabdomyolysis0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0003201HP:0003201Rhabdomyolysis0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0003201HP:0003201Rhabdomyolysis0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0003201HP:0003201Rhabdomyolysis0CACNA1S CL E G H7791397OMIM:188580Thyrotoxic periodic paralysis, susceptibility to, 1.247
HP:0003201HP:0003201Rhabdomyolysis0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0003201HP:0003201Rhabdomyolysis0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003201HP:0003201Rhabdomyolysis0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003201HP:0003201Rhabdomyolysis0CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic formHP:0040283 - Occasional101
HP:0003201HP:0003201Rhabdomyolysis0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040283 - Occasional101
HP:0003201HP:0003201Rhabdomyolysis0CPT2 CL E G H13762330OMIM:255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced.101
HP:0003201HP:0003201Rhabdomyolysis0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0003201HP:0003201Rhabdomyolysis0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0003201HP:0003201Rhabdomyolysis0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0003201HP:0003201Rhabdomyolysis0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyHP:0040284 - Very rare
HP:0003201HP:0003201Rhabdomyolysis0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0003201HP:0003201Rhabdomyolysis0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency.99
HP:0003201HP:0003201Rhabdomyolysis0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040281 - Very frequent99
HP:0003201HP:0003201Rhabdomyolysis0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040281 - Very frequent60
HP:0003201HP:0003201Rhabdomyolysis0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency.60
HP:0003201HP:0003201Rhabdomyolysis0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish typeHP:0040283 - Occasional19
HP:0003201HP:0003201Rhabdomyolysis0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0003201HP:0003201Rhabdomyolysis0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0003201HP:0003201Rhabdomyolysis0LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI.35
HP:0003201HP:0003201Rhabdomyolysis0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003201HP:0003201Rhabdomyolysis0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0003201HP:0003201Rhabdomyolysis0MLIP CL E G H9052321355OMIM:620138
HP:0003201HP:0003201Rhabdomyolysis0PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of.26
HP:0003201HP:0003201Rhabdomyolysis0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0003201HP:0003201Rhabdomyolysis0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0003201HP:0003201Rhabdomyolysis0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0003201HP:0003201Rhabdomyolysis0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0003201HP:0003201Rhabdomyolysis0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003201HP:0003201Rhabdomyolysis0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040282 - Frequent166
HP:0003201HP:0003201Rhabdomyolysis0PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0003201HP:0003201Rhabdomyolysis0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0003201HP:0003201Rhabdomyolysis0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0003201HP:0003201Rhabdomyolysis0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0003201HP:0003201Rhabdomyolysis0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0003201HP:0003201Rhabdomyolysis0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0003201HP:0003201Rhabdomyolysis0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0003201HP:0003201Rhabdomyolysis0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0003201HP:0003201Rhabdomyolysis0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0003201HP:0003201Rhabdomyolysis0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regressionHP:0040284 - Very rare1
HP:0003201HP:0003201Rhabdomyolysis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0003201HP:0003201Rhabdomyolysis0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003201HP:0003201Rhabdomyolysis0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0003201HP:0003201Rhabdomyolysis0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0003201HP:0003201Rhabdomyolysis0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0003201HP:0003201Rhabdomyolysis0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0003201HP:0003201Rhabdomyolysis0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0003201HP:0003201Rhabdomyolysis0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0003201HP:0003201Rhabdomyolysis0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0003201HP:0003201Rhabdomyolysis0XK CL E G H750412811OMIM:300842Mcleod syndromeHP:0040283 - Occasional8
HP:0003201HP:0011440Alcohol-induced rhabdomyolysis1 CL E G H
HP:0003201HP:0011439Anesthetic-induced rhabdomylosis1 CL E G H
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency.200
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040282 - Frequent50
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040282 - Frequent50
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0003201HP:0008942Acute rhabdomyolysis1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003201HP:0008942Acute rhabdomyolysis1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0003201HP:0008942Acute rhabdomyolysis1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040282 - Frequent35
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003201HP:0008942Acute rhabdomyolysis1LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0003201HP:0009045Exercise-induced rhabdomyolysis1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0003201HP:0008942Acute rhabdomyolysis1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0003201HP:0008942Acute rhabdomyolysis1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0003201HP:0008942Acute rhabdomyolysis1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0003201HP:0003558Viral infection-induced rhabdomyolysis1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102


Genes (43) :ACADVL ALDOA AMACR AMPD1 ANO5 ATP5F1D BCS1L CACNA1S CLCNKB COX1 COX3 CPT2 CTDP1 DGUOK FDX2 GABRA3 HADHA HADHB ISCU KCNJ18 LDHA LPIN1 MLIP PGAM2 PGK1 PGM1 PHKB POLG PYGM RYR1 SEPSECS SLC12A3 SLC25A20 SLC25A42 SUCLG1 TANGO2 TRAPPC2L TSEN15 TSEN2 TSEN34 TSEN54 TSFM XK

Diseases (48) :ORPHA:26793 OMIM:201475 ORPHA:57 ORPHA:79095 OMIM:615511 ORPHA:399096 OMIM:618120 OMIM:124000 ORPHA:423 ORPHA:79102 OMIM:188580 ORPHA:358 ORPHA:99845 ORPHA:228302 ORPHA:228305 OMIM:255110 OMIM:604168 ORPHA:48431 ORPHA:329314 OMIM:251900 OMIM:609015 ORPHA:746 OMIM:255125 ORPHA:284426 OMIM:612933 OMIM:268200 OMIM:620138 OMIM:261670 ORPHA:713 OMIM:300653 OMIM:614921 ORPHA:79240 OMIM:157640 ORPHA:368 OMIM:232600 ORPHA:466650 OMIM:145600 ORPHA:2524 OMIM:263800 ORPHA:159 OMIM:212138 OMIM:618416 ORPHA:17 OMIM:616878 ORPHA:480864 OMIM:618331 OMIM:610505 OMIM:300842
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.