Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle fiber morphology (HP:0004303)help
Parent Node:
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Increased muscle lipid content (HP:0009058)help
..Starting node
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Increased intramyocellular lipid droplets (HP:0012240)help
Term ID: 12240
Name: Increased intramyocellular lipid droplets
Synonym: Increased muscle lipid droplets
Definition: An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.
Comments:
Reference: HP:0012240
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012240HP:0012240Increased intramyocellular lipid droplets0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0012240HP:0012240Increased intramyocellular lipid droplets0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0012240HP:0012240Increased intramyocellular lipid droplets0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent247
HP:0012240HP:0012240Increased intramyocellular lipid droplets0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0012240HP:0012240Increased intramyocellular lipid droplets0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0012240HP:0012240Increased intramyocellular lipid droplets0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0012240HP:0012240Increased intramyocellular lipid droplets0COX6A2 CL E G H13392279OMIM:619062MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012240HP:0012240Increased intramyocellular lipid droplets0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0012240HP:0012240Increased intramyocellular lipid droplets0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0012240HP:0012240Increased intramyocellular lipid droplets0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent73
HP:0012240HP:0012240Increased intramyocellular lipid droplets0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0012240HP:0012240Increased intramyocellular lipid droplets0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0012240HP:0012240Increased intramyocellular lipid droplets0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0012240HP:0012240Increased intramyocellular lipid droplets0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0012240HP:0012240Increased intramyocellular lipid droplets0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040281 - Very frequent65
HP:0012240HP:0012240Increased intramyocellular lipid droplets0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent263
HP:0012240HP:0012240Increased intramyocellular lipid droplets0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0012240HP:0012240Increased intramyocellular lipid droplets0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0012240HP:0012240Increased intramyocellular lipid droplets0SURF1 CL E G H683411474OMIM:220110Mitochondrial complex IV deficiency.73
HP:0012240HP:0012240Increased intramyocellular lipid droplets0TRNN CL E G H45707493OMIM:220110Mitochondrial complex IV deficiency.
HP:0012240HP:0012240Increased intramyocellular lipid droplets0TRNS1 CL E G H45747497OMIM:220110Mitochondrial complex IV deficiency.


Genes (20) :ABHD5 AFG3L2 CACNA1S CHCHD10 COQ8A COX6A2 GABRA3 ISCU KCNE3 KCNJ18 MSTO1 NDUFA4 NDUFS4 PNPLA2 SCN4A SDHA SUCLG1 SURF1 TRNN TRNS1

Diseases (15) :ORPHA:98907 OMIM:614487 ORPHA:681 ORPHA:79102 ORPHA:457050 OMIM:612016 OMIM:619062 OMIM:255125 ORPHA:502423 OMIM:619065 OMIM:252010 ORPHA:98908 OMIM:252011 ORPHA:17 OMIM:220110
 

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