Term ID: 25201
Name: Abnormal circulating apolipoprotein concentration
Synonym: Abnormal apolipoprotein level
Definition: A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.
Comments:
Reference: HP:0025201
Genes and Diseases: Child Nodes: ........Elevated apolipoprotein A-IV level (HP:0025202) ........Elevated apolipoprotein B level (HP:0031798) ........Decreased apolipoprotein AI level (HP:0031799) ........Elevated apolipoprotein A-II level (HP:0031800) Sister Nodes: ..Abnormal B-type natriuretic peptide level (HP:0031138) ..Abnormal circulating albumin concentration (HP:0012116) ..Abnormal circulating beta globulin level (HP:0025465) ..Abnormal circulating beta-C-terminal telopeptide concentration (HP:0031424) ..Abnormal circulating thyroglobulin level (HP:0025483) ..Abnormal hepcidin level (HP:0031875) ..Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034) ..Abnormal levels of alpha-fetoprotein (HP:0045056) ..Abnormal retinol-binding protein level (HP:0031031) ..Abnormality of circulating enzyme level (HP:0011021) ..Abnormality of the kinin-kallikrein system (HP:0005559) ..Decreased prealbumin level (HP:0031085) ..Elevated carcinoembryonic antigen level (HP:0031029) ..Elevated carcinoma antigen 125 level (HP:0031030) ..Elevated circulating C-reactive protein concentration (HP:0011227) ..Elevated prostate-specific antigen level (HP:0025020) ..Hyperpepsinogenemia I (HP:0003238) ..Hyperproteinemia (HP:0002152) ..Hypoproteinemia (HP:0003075) ..Increased circulating thyroxine-binding globulin level (HP:0031222) ..Reduced growth-hormone binding protein level (HP:0031036) ..Reduced insulin-like factor 3 level (HP:0031037) ..Reduced sex -hormone binding protein level (HP:0031419) ..Reduced thyroxin-binding globulin (HP:0012509) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 ABCA1 CL E G H 19 29 OMIM:205400 Tangier disease 191 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 APOA1 CL E G H 335 600 OMIM:619836 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE 40 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 APOC2 CL E G H 344 609 OMIM:207750 APOLIPOPROTEIN C-II DEFICIENCY 27 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 ATP6V0A2 CL E G H 23545 18481 ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0040282 - Frequent 140 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 ATP6V1A CL E G H 523 851 ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0040282 - Frequent 3 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 ATP6V1E1 CL E G H 529 857 ORPHA:357074 Autosomal recessive cutis laxa type 2, classic type HP:0040282 - Frequent 2 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 CCT5 CL E G H 22948 1618 OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 56 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 LPL CL E G H 4023 6677 OMIM:144250 Hyperlipidemia, familial combined, 3 106 HP:0025201 HP:0025201 Abnormal circulating apolipoprotein concentration 0 MTTP CL E G H 4547 7467 ORPHA:14 Abetalipoproteinemia HP:0040281 - Very frequent 81 HP:0025201 HP:0033460 Increased circulating apolipoprotein circulation 1 ABCA1 CL E G H 19 29 OMIM:205400 Tangier disease 191 HP:0025201 HP:0033459 Decreased circulating apolipoprotein concentration 1 ABCA1 CL E G H 19 29 OMIM:205400 Tangier disease 191 HP:0025201 HP:0033459 Decreased circulating apolipoprotein concentration 1 APOA1 CL E G H 335 600 OMIM:619836 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE 40 HP:0025201 HP:0033459 Decreased circulating apolipoprotein concentration 1 APOC2 CL E G H 344 609 OMIM:207750 APOLIPOPROTEIN C-II DEFICIENCY 27 HP:0025201 HP:0033459 Decreased circulating apolipoprotein concentration 1 CCT5 CL E G H 22948 1618 OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 56 HP:0025201 HP:0033460 Increased circulating apolipoprotein circulation 1 LPL CL E G H 4023 6677 OMIM:144250 Hyperlipidemia, familial combined, 3 106 HP:0025201 HP:0033112 Elevated circulating apolipoprotein C-III concentration 2 CL E G H HP:0025201 HP:0025202 Elevated circulating apolipoprotein A-IV concentration 2 CL E G H HP:0025201 HP:0031800 Elevated circulating apolipoprotein A-II concentration 2 ABCA1 CL E G H 19 29 OMIM:205400 Tangier disease 191 HP:0025201 HP:0031799 Decreased circulating apolipoprotein AI concentration 2 ABCA1 CL E G H 19 29 OMIM:205400 Tangier disease 191 HP:0025201 HP:0031799 Decreased circulating apolipoprotein AI concentration 2 APOA1 CL E G H 335 600 OMIM:619836 HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE 40 HP:0025201 HP:0033983 Decreased circulating apolipoprotein C-II concentration 2 APOC2 CL E G H 344 609 OMIM:207750 APOLIPOPROTEIN C-II DEFICIENCY 27 HP:0025201 HP:0034075 Decreased circulating apolipoprotein B concentration 2 CCT5 CL E G H 22948 1618 OMIM:256840 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 56 HP:0025201 HP:0031798 Elevated circulating apolipoprotein B concentration 2 LPL CL E G H 4023 6677 OMIM:144250 Hyperlipidemia, familial combined, 3 106 HP:0025201 HP:0031800 Elevated circulating apolipoprotein A-II concentration 2 LPL CL E G H 4023 6677 OMIM:144250 Hyperlipidemia, familial combined, 3 106
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
