Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating carbohydrate concentration (HP:0011013)help
Parent Node:
expand
Abnormal glucose homeostasis (HP:0011014)help
..Starting node
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Abnormal circulating C-peptide concentration (HP:0030794)help
Term ID: 30794
Name: Abnormal circulating C-peptide concentration
Synonym: Abnormal C peptide level; Abnormal C-peptide level
Definition: An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.
Comments:
Reference: HP:0030794
Genes and Diseases:
 
       Child Nodes:
........expandReduced C-peptide level (HP:0030795) help
........expandIncreased C-peptide level (HP:0030796) help

 Sister Nodes: 
..expandAbnormal blood glucose concentration (HP:0011015) help
..expandDiabetes mellitus (HP:0000819) help
..expandGlucose intolerance (HP:0001952) help
..expandHyperinsulinemia (HP:0000842) help
..expandImpaired gluconeogenesis (HP:0005959) help
..expandIncreased proinsulin:insulin ratio (HP:0031883) help
..expandInsulin insensitivity (HP:0008189) help
..expandInsulin resistance (HP:0000855) help
..expandobsolete Abnormality of urine glucose concentration (HP:0011016) 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:0030794HP:0030794Abnormal circulating C-peptide concentration0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0ABCC8 CL E G H683359ORPHA:552MODYHP:0040282 - Frequent245
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0APPL1 CL E G H2606024035ORPHA:552MODYHP:0040282 - Frequent2
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0BLK CL E G H6401057ORPHA:552MODYHP:0040282 - Frequent75
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0CEL CL E G H10561848ORPHA:552MODYHP:0040282 - Frequent25
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040281 - Very frequent237
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0GCK CL E G H26454195ORPHA:552MODYHP:0040282 - Frequent237
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0HNF1A CL E G H692711621ORPHA:552MODYHP:0040282 - Frequent161
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0HNF4A CL E G H31725024ORPHA:552MODYHP:0040282 - Frequent138
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0INS CL E G H36306081ORPHA:552MODYHP:0040282 - Frequent62
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0INSR CL E G H36436091ORPHA:263458Hyperinsulinism due to INSR deficiencyHP:0040281 - Very frequent229
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040282 - Frequent127
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0KLF11 CL E G H846211811ORPHA:552MODYHP:0040282 - Frequent78
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytoma
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040282 - Frequent32
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0PAX4 CL E G H50788618ORPHA:552MODYHP:0040282 - Frequent55
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0PDX1 CL E G H36516107ORPHA:552MODYHP:0040282 - Frequent30
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital30
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytoma1
HP:0030794HP:0030794Abnormal circulating C-peptide concentration0UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiency15
HP:0030794HP:0030796Increased C-peptide level1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040281 - Very frequent245
HP:0030794HP:0030796Increased C-peptide level1AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional85
HP:0030794HP:0030796Increased C-peptide level1BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional105
HP:0030794HP:0030796Increased C-peptide level1CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional11
HP:0030794HP:0030796Increased C-peptide level1CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional48
HP:0030794HP:0030796Increased C-peptide level1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0030794HP:0030795Reduced C-peptide level1CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040282 - Frequent2
HP:0030794HP:0030796Increased C-peptide level1FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional
HP:0030794HP:0030795Reduced C-peptide level1GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0030794HP:0030796Increased C-peptide level1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0030794HP:0030796Increased C-peptide level1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040281 - Very frequent161
HP:0030794HP:0030795Reduced C-peptide level1INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0030794HP:0030796Increased C-peptide level1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0030794HP:0030796Increased C-peptide level1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040281 - Very frequent127
HP:0030794HP:0030796Increased C-peptide level1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0030794HP:0030795Reduced C-peptide level1KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0030794HP:0030795Reduced C-peptide level1NAB2 CL E G H46657627ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare
HP:0030794HP:0030795Reduced C-peptide level1PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital30
HP:0030794HP:0030796Increased C-peptide level1PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040283 - Occasional42
HP:0030794HP:0030795Reduced C-peptide level1STAT6 CL E G H677811368ORPHA:2126Solitary fibrous tumor/hemangiopericytomaHP:0040284 - Very rare1
HP:0030794HP:0030796Increased C-peptide level1UCP2 CL E G H735112518ORPHA:276556Hyperinsulinism due to UCP2 deficiencyHP:0040281 - Very frequent15


Genes (26) :ABCC8 AGPAT2 APPL1 BLK BSCL2 CAV1 CAVIN1 CEL CIDEC CNOT1 FOS GCK HADH HNF1A HNF4A INS INSR KCNJ11 KLF11 NAB2 NEUROD1 PAX4 PDX1 PPARG STAT6 UCP2

Diseases (18) :ORPHA:276575 ORPHA:552 ORPHA:528 OMIM:615238 ORPHA:556955 OMIM:606176 ORPHA:79299 ORPHA:71212 ORPHA:324575 OMIM:618858 ORPHA:263458 ORPHA:769 ORPHA:276580 ORPHA:79644 OMIM:618856 ORPHA:2126 OMIM:260370 ORPHA:276556
 

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