Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating carboxylic acid concentration (HP:0004354)help
Parent Node:
expand
Abnormal circulating monocarboxylic acid concentration (HP:0010996)help
..Starting node
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Abnormal serum bile acid concentration (HP:0030984)help
Term ID: 30984
Name: Abnormal serum bile acid concentration
Synonym:
Definition: A deviation from the normal concentration of serum bile acid concentration.
Comments:
Reference: HP:0030984
Genes and Diseases:
 
       Child Nodes:
........expandIncreased serum bile acid concentration (HP:0012202) help
................... HP:0200150 Increased serum bile acid concentration during pregnancy
........expandDecreased serum bile concentration (HP:0030985) help

 Sister Nodes: 
..expand4-hydroxyphenylacetic aciduria (HP:0003607) help
..expand4-Hydroxyphenylpyruvic aciduria (HP:0003161) help
..expandIncreased level of myristic acid in serum (HP:0410154) help
..expandobsolete Increased urinary orotic acid concentration (HP:0010928) help
..expandReduced 4-Hydroxyphenylpyruvate dioxygenase level (HP:0003637) help
..expandUrocanic aciduria (HP:0012237) 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:0030984HP:0030984Abnormal serum bile acid concentration0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancy146
HP:0030984HP:0030984Abnormal serum bile acid concentration0ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3111
HP:0030984HP:0030984Abnormal serum bile acid concentration0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancy111
HP:0030984HP:0030984Abnormal serum bile acid concentration0ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0030984HP:0030984Abnormal serum bile acid concentration0AKR1D1 CL E G H6718388ORPHA:79303Congenital bile acid synthesis defect type 262
HP:0030984HP:0030984Abnormal serum bile acid concentration0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0030984HP:0030984Abnormal serum bile acid concentration0ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1144
HP:0030984HP:0030984Abnormal serum bile acid concentration0ATP8B1 CL E G H52053706OMIM:147480Cholestasis, intrahepatic, of pregnancy, 1144
HP:0030984HP:0030984Abnormal serum bile acid concentration0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancy144
HP:0030984HP:0030984Abnormal serum bile acid concentration0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0030984HP:0030984Abnormal serum bile acid concentration0DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney disease4
HP:0030984HP:0030984Abnormal serum bile acid concentration0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0030984HP:0030984Abnormal serum bile acid concentration0KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0030984HP:0030984Abnormal serum bile acid concentration0MYO5B CL E G H46457603OMIM:619868192
HP:0030984HP:0030984Abnormal serum bile acid concentration0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancy14
HP:0030984HP:0030984Abnormal serum bile acid concentration0PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney disease563
HP:0030984HP:0030984Abnormal serum bile acid concentration0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0030984HP:0030984Abnormal serum bile acid concentration0SEMA7A CL E G H848210741OMIM:6198745
HP:0030984HP:0030984Abnormal serum bile acid concentration0SLC10A1 CL E G H655410905OMIM:619256HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0030984HP:0030984Abnormal serum bile acid concentration0SLC51B CL E G H12326429956OMIM:619481BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0030984HP:0030984Abnormal serum bile acid concentration0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0030984HP:0030984Abnormal serum bile acid concentration0TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiency34
HP:0030984HP:0030984Abnormal serum bile acid concentration0TJP2 CL E G H941411828OMIM:607748Hypercholanemia, familial149
HP:0030984HP:0030984Abnormal serum bile acid concentration0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0030984HP:0030984Abnormal serum bile acid concentration0VPS33B CL E G H2627612712OMIM:62001063
HP:0030984HP:0030984Abnormal serum bile acid concentration0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0030984HP:0012202Increased serum bile acid concentration1ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040281 - Very frequent146
HP:0030984HP:0012202Increased serum bile acid concentration1ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3111
HP:0030984HP:0012202Increased serum bile acid concentration1ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040281 - Very frequent111
HP:0030984HP:0012202Increased serum bile acid concentration1ABCD3 CL E G H582567OMIM:616278BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS55
HP:0030984HP:0012202Increased serum bile acid concentration1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0030984HP:0012202Increased serum bile acid concentration1ATP8B1 CL E G H52053706OMIM:243300Cholestasis, benign recurrent intrahepatic 1.144
HP:0030984HP:0012202Increased serum bile acid concentration1ATP8B1 CL E G H52053706OMIM:147480Cholestasis, intrahepatic, of pregnancy, 1144
HP:0030984HP:0012202Increased serum bile acid concentration1ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040281 - Very frequent144
HP:0030984HP:0012202Increased serum bile acid concentration1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0030984HP:0012202Increased serum bile acid concentration1DZIP1L CL E G H19922126551ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent4
HP:0030984HP:0012202Increased serum bile acid concentration1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0030984HP:0012202Increased serum bile acid concentration1KIF12 CL E G H11322021495OMIM:619662CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC81
HP:0030984HP:0012202Increased serum bile acid concentration1MYO5B CL E G H46457603OMIM:619868192
HP:0030984HP:0012202Increased serum bile acid concentration1NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040281 - Very frequent14
HP:0030984HP:0012202Increased serum bile acid concentration1PKHD1 CL E G H53149016ORPHA:731Autosomal recessive polycystic kidney diseaseHP:0040282 - Frequent563
HP:0030984HP:0012202Increased serum bile acid concentration1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent26
HP:0030984HP:0012202Increased serum bile acid concentration1SEMA7A CL E G H848210741OMIM:6198745
HP:0030984HP:0012202Increased serum bile acid concentration1SLC10A1 CL E G H655410905OMIM:619256HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0030984HP:0030985Decreased serum bile acid concentration1SLC51B CL E G H12326429956OMIM:619481BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0030984HP:0012202Increased serum bile acid concentration1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent
HP:0030984HP:0012202Increased serum bile acid concentration1TALDO1 CL E G H688811559ORPHA:101028Transaldolase deficiencyHP:0040281 - Very frequent34
HP:0030984HP:0012202Increased serum bile acid concentration1TJP2 CL E G H941411828OMIM:607748Hypercholanemia, familial.149
HP:0030984HP:0012202Increased serum bile acid concentration1UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0030984HP:0012202Increased serum bile acid concentration1VPS33B CL E G H2627612712OMIM:62001063
HP:0030984HP:0012202Increased serum bile acid concentration1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0030984HP:0200150Increased serum bile acid concentration during pregnancy2ABCB4 CL E G H524445OMIM:614972Cholestasis, intrahepatic, of pregnancy 3.111
HP:0030984HP:0200150Increased serum bile acid concentration during pregnancy2ATP8B1 CL E G H52053706OMIM:147480Cholestasis, intrahepatic, of pregnancy, 1.144
HP:0030984HP:0034048Decreased circulating chenodeoxycholic acid concentration2SLC51B CL E G H12326429956OMIM:619481BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2


Genes (23) :ABCB11 ABCB4 ABCD3 AKR1D1 AP1B1 ATP8B1 DNAJC21 DZIP1L EFL1 KIF12 MYO5B NR1H4 PKHD1 SBDS SEMA7A SLC10A1 SLC51B SRP54 TALDO1 TJP2 UNC45A VPS33B VPS50

Diseases (19) :ORPHA:69665 OMIM:614972 OMIM:616278 ORPHA:79303 OMIM:242150 OMIM:243300 OMIM:147480 ORPHA:811 ORPHA:731 OMIM:619662 OMIM:619868 OMIM:619874 OMIM:619256 OMIM:619481 ORPHA:101028 OMIM:607748 OMIM:619377 OMIM:620010 OMIM:619685
 

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