Human Phenotype Ontology 
Grandparent Node:
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Abnormality of amino acid metabolism (HP:0004337)help
Parent Node:
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Abnormal circulating citrulline concentration (HP:0011965)help
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Low plasma citrulline (HP:0003572)help
Term ID: 3572
Name: Low plasma citrulline
Synonym:
Definition: A decreased concentration of citrulline in the blood.
Comments:
Reference: HP:0003572
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandElevated plasma citrulline (HP:0011966) 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:0003572HP:0003572Low plasma citrulline0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0003572HP:0003572Low plasma citrulline0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0003572HP:0003572Low plasma citrulline0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to.369
HP:0003572HP:0003572Low plasma citrulline0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0003572HP:0003572Low plasma citrulline0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare
HP:0003572HP:0003572Low plasma citrulline0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040284 - Very rare


Genes (15) :ATP6 CPS1 MRM2 ND1 ND2 ND3 ND4 ND5 ND6 OTC PCK1 TRNK TRNL1 TRNV TRNW

Diseases (5) :ORPHA:255210 OMIM:237300 OMIM:618567 OMIM:311250 OMIM:261680
 

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