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 serum insulin-like growth factor 1 level (HP:0030352)help
Term ID: 30352
Name: Abnormal serum insulin-like growth factor 1 level
Synonym:
Definition: An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Comments:
Reference: HP:0030352
Genes and Diseases:
 
       Child Nodes:
........expandIncreased serum insulin-like growth factor 1 (HP:0030269) help
........expandDecreased serum insulin-like growth factor 1 (HP:0030353) 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 gonadotropin-releasing hormone concentration (HP:0500012) 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:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 195
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GHR CL E G H26904263OMIM:604271Growth hormone insensitivity, partial98
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GHR CL E G H26904263ORPHA:314802Short stature due to partial GHR deficiency98
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiency37
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to268
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0IGFALS CL E G H34835468OMIM:615961ACID-LABILE SUBUNIT DEFICIENCY; ACLSD53
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0IGFALS CL E G H34835468ORPHA:140941Short stature due to primary acid-labile subunit deficiency53
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0030352HP:0030352Abnormal serum insulin-like growth factor 1 level0STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1AIP CL E G H9049358OMIM:102200Pituitary adenoma, growth hormone-secreting, 1.95
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GHR CL E G H26904263OMIM:604271Growth hormone insensitivity, partial98
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GHR CL E G H26904263ORPHA:314802Short stature due to partial GHR deficiencyHP:0040281 - Very frequent98
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiencyHP:0040281 - Very frequent37
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11IGFALS CL E G H34835468OMIM:615961ACID-LABILE SUBUNIT DEFICIENCY; ACLSD53
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11IGFALS CL E G H34835468ORPHA:140941Short stature due to primary acid-labile subunit deficiencyHP:0040281 - Very frequent53
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0030352HP:0030269Increased circulating insulin-like growth factor 1 concentration1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040283 - Occasional164
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040281 - Very frequent24
HP:0030352HP:0030353Decreased serum insulin-like growth factor 11STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212


Genes (28) :ADAT3 AIP ALG12 CTSK DCAF17 GALT GH1 GHR GHRHR GHSR GPR101 IGF1 IGF1R IGFALS KIAA0753 MCTP2 MED12 MEN1 MPDU1 NFKB2 PDE11A PGM1 PRKAR1A RBM28 SIK3 SMPD1 SOX3 STAT5B

Diseases (30) :ORPHA:363528 OMIM:102200 ORPHA:99725 ORPHA:79324 ORPHA:763 OMIM:241080 ORPHA:79239 OMIM:262400 OMIM:604271 OMIM:262500 ORPHA:314802 OMIM:618157 ORPHA:314811 OMIM:300942 OMIM:608747 OMIM:270450 OMIM:615961 ORPHA:140941 OMIM:619476 ORPHA:1596 OMIM:301068 ORPHA:79323 ORPHA:293978 ORPHA:1359 OMIM:614921 ORPHA:157954 OMIM:618162 ORPHA:77293 ORPHA:67045 OMIM:618985
 

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