Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the mitochondrion (HP:0012103)help
Parent Node:
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Abnormal circulating carnitine concentration (HP:0010967)help
Parent Node:
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Abnormality of mitochondrial metabolism (HP:0003287)help
..Starting node
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Decreased plasma carnitine (HP:0003234)help
Term ID: 3234
Name: Decreased plasma carnitine
Synonym: Carnitine deficiency; Decreased plasma carnitine
Definition: A decreased concentration of carnitine in the blood.
Comments:
Reference: HP:0003234
Genes and Diseases:
 
       Child Nodes:
........expandDecreased plasma free carnitine (HP:0008315) help
........expandDecreased plasma total carnitine (HP:0011936) help

 Sister Nodes: 
..expand3-Methylglutaconic aciduria (HP:0003535) help
..expandAbnormal activity of mitochondrial respiratory chain (HP:0011922) help
..expandAbnormal iron deposition in mitochondria (HP:0008306) help
..expandAbnormal mitochondria in muscle tissue (HP:0008316) help
..expandDecreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950) help
..expandDecreased activity of the pyruvate dehydrogenase complex (HP:0002928) help
..expandDeficiency or absence of cytochrome b(-245) (HP:0003514) help
..expandElectron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647) help
..expandMitochondrial depletion (HP:0030059) help
..expandMitochondrial lysine transport defect (HP:0008265) help
..expandMitochondrial malic enzyme reduced (HP:0003232) help
..expandMitochondrial propionyl-CoA carboxylase defect (HP:0003288) help
..expandMitochondrial respiratory chain defects (HP:0200125) 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:0003234HP:0003234Decreased plasma carnitine0ACAD8 CL E G H2703487OMIM:611283Isobutyryl-CoA dehydrogenase deficiency.58
HP:0003234HP:0003234Decreased plasma carnitine0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040282 - Frequent58
HP:0003234HP:0003234Decreased plasma carnitine0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0003234HP:0003234Decreased plasma carnitine0ACADM CL E G H3489OMIM:201450Acyl-Coa dehydrogenase, medium-chain, deficiency of.197
HP:0003234HP:0003234Decreased plasma carnitine0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0003234HP:0003234Decreased plasma carnitine0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0003234HP:0003234Decreased plasma carnitine0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040282 - Frequent263
HP:0003234HP:0003234Decreased plasma carnitine0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form263
HP:0003234HP:0003234Decreased plasma carnitine0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0003234HP:0003234Decreased plasma carnitine0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0003234HP:0003234Decreased plasma carnitine0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0003234HP:0003234Decreased plasma carnitine0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0003234HP:0003234Decreased plasma carnitine0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0003234HP:0003234Decreased plasma carnitine0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent2
HP:0003234HP:0003234Decreased plasma carnitine0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent86
HP:0003234HP:0003234Decreased plasma carnitine0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0003234HP:0003234Decreased plasma carnitine0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency.35
HP:0003234HP:0003234Decreased plasma carnitine0MCCC2 CL E G H640876937OMIM:2102103-Methylcrotonyl-CoA carboxylase 2 deficiency77
HP:0003234HP:0003234Decreased plasma carnitine0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form6
HP:0003234HP:0003234Decreased plasma carnitine0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0003234HP:0003234Decreased plasma carnitine0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0003234HP:0003234Decreased plasma carnitine0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent39
HP:0003234HP:0003234Decreased plasma carnitine0SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446
HP:0003234HP:0003234Decreased plasma carnitine0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary.207
HP:0003234HP:0003234Decreased plasma carnitine0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0003234HP:0003234Decreased plasma carnitine0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040282 - Frequent47
HP:0003234HP:0003234Decreased plasma carnitine0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional101
HP:0003234HP:0003234Decreased plasma carnitine0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040283 - Occasional
HP:0003234HP:0011936Decreased plasma total carnitine1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0003234HP:0011936Decreased plasma total carnitine1COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0003234HP:0008315Decreased plasma free carnitine1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040281 - Very frequent101
HP:0003234HP:0011936Decreased plasma total carnitine1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040281 - Very frequent101
HP:0003234HP:0008315Decreased plasma free carnitine1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0003234HP:0011936Decreased plasma total carnitine1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0003234HP:0008315Decreased plasma free carnitine1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0003234HP:0011936Decreased plasma total carnitine1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0003234HP:0011936Decreased plasma total carnitine1MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0003234HP:0008315Decreased plasma free carnitine1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0003234HP:0008315Decreased plasma free carnitine1SCO1 CL E G H634110603OMIM:619048MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN446


Genes (22) :ACAD8 ACAD9 ACADM ACADVL COL7A1 CPT2 CTNS DLD EHHADH GATM HADH HMGCL MCCC2 MMP1 NADK2 NDUFAF6 SCO1 SLC22A5 SLC25A20 SLC34A1 TRMU TRNE

Diseases (23) :OMIM:611283 ORPHA:79159 ORPHA:99901 OMIM:201450 ORPHA:42 OMIM:201475 ORPHA:89842 ORPHA:79408 ORPHA:228308 ORPHA:228305 OMIM:608836 OMIM:219800 ORPHA:2394 ORPHA:3337 ORPHA:71212 OMIM:246450 OMIM:210210 OMIM:616034 ORPHA:431361 OMIM:619048 OMIM:212140 ORPHA:159 ORPHA:254864
 

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