Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormal circulating hormone concentration (HP:0003117)help
..Starting node
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Abnormal circulating leptin concentration (HP:0004361)help
Term ID: 4361
Name: Abnormal circulating leptin concentration
Synonym: Abnormality of circulating leptin level
Definition: An abnormal concentration of leptin in the blood.
Comments:
Reference: HP:0004361
Genes and Diseases:
 
       Child Nodes:
........expandDecreased serum leptin (HP:0003292) help
........expandIncreased serum leptin (HP:0031793) help

 Sister Nodes: 
..expandAbnormal adiponectin level (HP:0030684) help
..expandAbnormal circulating adrenocorticotropin concentration (HP:0011043) help
..expandAbnormal circulating androgen level (HP:0030347) help
..expandAbnormal circulating antimullerian hormone concentration (HP:0031101) help
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating gonadotropin concentration (HP:0030338) help
..expandAbnormal circulating inhibin level (HP:0031099) help
..expandAbnormal circulating insulin concentration (HP:0040214) help
..expandAbnormal circulating osteocalcin level (HP:0031427) help
..expandAbnormal circulating pregnenolone concentration (HP:0031187) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal circulating thyroid hormone concentration (HP:0031508) help
..expandAbnormal glucagon level (HP:0030687) help
..expandAbnormal gonadotropin-releasing hormone concentration (HP:0500012) help
..expandAbnormal serum insulin-like growth factor 1 level (HP:0030352) help
..expandAbnormality of circulating catecholamine level (HP:0012099) help
..expandAbnormality of circulating glucocorticoid level (HP:0012111) help
..expandDecreased circulating dehydroepiandrosterone concentration (HP:0031214) help
..expandDecreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215) help
..expandDecreased circulating parathyroid hormone level (HP:0031817) help
..expandDecreased response to growth hormone stimulation test (HP:0000824) help
..expandElevated circulating parathyroid hormone level (HP:0003165) help
..expandElevated vascular endothelial growth factor level (HP:0031052) help
..expandFasting hypoglycemia (HP:0003162) help
..expandIncreased pituitary glycoprotein hormone alpha subunit level (HP:0031208) help
..expandIncreased serum serotonin (HP:0003144) help
..expandobsolete Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) 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:0004361HP:0004361Abnormal circulating leptin concentration0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0004361HP:0004361Abnormal circulating leptin concentration0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0004361HP:0004361Abnormal circulating leptin concentration0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0004361HP:0004361Abnormal circulating leptin concentration0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0004361HP:0004361Abnormal circulating leptin concentration0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0004361HP:0004361Abnormal circulating leptin concentration0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0004361HP:0004361Abnormal circulating leptin concentration0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0004361HP:0004361Abnormal circulating leptin concentration0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction47
HP:0004361HP:0004361Abnormal circulating leptin concentration0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0004361HP:0004361Abnormal circulating leptin concentration0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0004361HP:0004361Abnormal circulating leptin concentration0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0004361HP:0004361Abnormal circulating leptin concentration0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0004361HP:0004361Abnormal circulating leptin concentration0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0004361HP:0004361Abnormal circulating leptin concentration0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0004361HP:0004361Abnormal circulating leptin concentration0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0004361HP:0004361Abnormal circulating leptin concentration0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0004361HP:0031793Increased serum leptin1ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0004361HP:0003292Decreased serum leptin1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0004361HP:0003292Decreased serum leptin1AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040281 - Very frequent12
HP:0004361HP:0003292Decreased serum leptin1BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0004361HP:0003292Decreased serum leptin1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0004361HP:0003292Decreased serum leptin1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0004361HP:0003292Decreased serum leptin1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0004361HP:0003292Decreased serum leptin1LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0004361HP:0003292Decreased serum leptin1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040280 - Obligate47
HP:0004361HP:0003292Decreased serum leptin1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040280 - Obligate46
HP:0004361HP:0003292Decreased serum leptin1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0004361HP:0003292Decreased serum leptin1LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040282 - Frequent645
HP:0004361HP:0003292Decreased serum leptin1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0004361HP:0031793Increased serum leptin1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0004361HP:0003292Decreased serum leptin1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (12) :ADCY3 AGPAT2 AKT2 BANF1 BSCL2 CIDEC LEP LEPR LIPE LMNA MECP2 ZMPSTE24

Diseases (15) :OMIM:617885 OMIM:608594 ORPHA:79085 OMIM:614008 OMIM:269700 ORPHA:435651 OMIM:615238 OMIM:614962 ORPHA:66628 ORPHA:179494 ORPHA:435660 ORPHA:79474 ORPHA:280365 ORPHA:740 ORPHA:778
 

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