Human Phenotype Ontology 
Grandparent Node:
expandAbnormal circulating hormone concentration (HP:0003117)help
Parent Node:
expandAbnormal serum insulin-like growth factor 1 level (HP:0030352)help
..Starting node
..expandDecreased serum insulin-like growth factor 1 (HP:0030353)help
Term ID: 30353
Name: Decreased serum insulin-like growth factor 1
Synonym:
Definition: A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Comments:
Reference: HP:0030353
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandIncreased circulating insulin-like growth factor 1 concentration (HP:0030269) 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:0030353HP:0030353Decreased serum insulin-like growth factor 10ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040282 - Frequent351
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GHR CL E G H26904263OMIM:604271Growth hormone insensitivity, partial98
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GHR CL E G H26904263ORPHA:314802Short stature due to partial GHR deficiencyHP:0040281 - Very frequent98
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiencyHP:0040281 - Very frequent37
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency91
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10IGFALS CL E G H34835468OMIM:615961ACID-LABILE SUBUNIT DEFICIENCY; ACLSD53
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10IGFALS CL E G H34835468ORPHA:140941Short stature due to primary acid-labile subunit deficiencyHP:0040281 - Very frequent53
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040283 - Occasional164
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040281 - Very frequent24
HP:0030353HP:0030353Decreased serum insulin-like growth factor 10STAT5B CL E G H677711367OMIM:618985GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID212


Genes (22) :ADAT3 ALG12 CTSK DCAF17 GALT GH1 GHR GHRHR GHSR IGF1 IGFALS KIAA0753 MCTP2 MED12 MPDU1 NFKB2 PGM1 RBM28 SIK3 SMPD1 SOX3 STAT5B

Diseases (25) :ORPHA:363528 ORPHA:79324 ORPHA:763 OMIM:241080 ORPHA:79239 OMIM:262400 OMIM:604271 OMIM:262500 ORPHA:314802 OMIM:618157 ORPHA:314811 OMIM:608747 OMIM:615961 ORPHA:140941 OMIM:619476 ORPHA:1596 OMIM:301068 ORPHA:79323 ORPHA:293978 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.