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 gonadotropin-releasing hormone concentration (HP:0500012)help
Term ID: 500012
Name: Abnormal gonadotropin-releasing hormone concentration
Synonym: Abnormality of GnRH level; Abnormality of gonadotropin-releasing hormone level
Definition: A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).
Comments:
Reference: HP:0500012
Genes and Diseases:
 
       Child Nodes:
........expandHypothalamic gonadotropin-releasing hormone deficiency (HP:0003164) help
........expandLack of gonadotropin-releasing hormone pulsatility (HP:0500013) 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 leptin concentration (HP:0004361) 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 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:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0500012HP:0500012Abnormal gonadotropin-releasing hormone concentration0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0500012HP:0500013Lack of gonadotropin-releasing hormone pulsatility1 CL E G H
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0500012HP:0003164Hypothalamic gonadotropin-releasing hormone deficiency1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10


Genes (21) :ANOS1 CCDC141 CHD7 DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 HESX1 HS6ST1 IL17RD NDNF PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3 WDR11

Diseases (3) :OMIM:308700 ORPHA:478 OMIM:618841
 

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