Details of Disease | DrugMAP

General Information of Disease (ID: DISWL710)

Disease Name	Growth delay due to insulin-like growth factor I resistance
Synonyms	insulin-like growth factor I, resistance to; IGF-I resistance; IGF-1 resistance; Somatomedin-c resistance to; insulin-like Growth Factor I, resistance to, due to increased binding Protein; Somatomedin, end-organ insensitivity to; Somatomedin-C, resistance to; IGF1RES; insulin-like growth factor 1 resistance to; Somatomedin end-organ insensitivity to; growth delay due to insulin-like growth factor I resistance; resistance to IGF-1
Definition	Growth delay due to IGF-I resistance is characterized by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).
Disease Hierarchy	DISYKSRF: Genetic disease DISHEQ1Z: Growth hormone insensitivity syndrome DISWL710: Growth delay due to insulin-like growth factor I resistance
Disease Identifiers	MONDO ID MONDO_0010038 MESH ID C564816 UMLS CUI C1849157 OMIM ID 270450 MedGen ID 338622 Orphanet ID 73273 SNOMED CT ID 715625007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAK2	TT279WO	Limited	Biomarker	[1]
GRK2	TTAZ3MN	moderate	Biomarker	[2]
IRS2	TTF95B8	moderate	Biomarker	[3]
IGF1R	TTHRID2	Definitive	Autosomal dominant	[4]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRB10	OTCKXGRC	Limited	Biomarker	[5]
PPP1R1B	OTSIJMQ9	Limited	Biomarker	[6]
APBB1	OTZPVSSC	Strong	Biomarker	[7]
IGF1R	OTXJIF13	Definitive	Autosomal dominant	[4]
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References

1	IGF1R signaling drives antiestrogen resistance through PAK2/PIX activation in luminal breast cancer.Oncogene. 2018 Apr;37(14):1869-1884. doi: 10.1038/s41388-017-0027-9. Epub 2018 Jan 22.
2	Expression of GRK2 and IGF1R in hepatocellular carcinoma: clinicopathological and prognostic significance.J Clin Pathol. 2017 Sep;70(9):754-759. doi: 10.1136/jclinpath-2016-203998. Epub 2017 Feb 15.
3	Genetic analysis of type-1 insulin-like growth factor receptor signaling through insulin receptor substrate-1 and -2 in pancreatic beta cells.J Biol Chem. 2010 Dec 24;285(52):41044-50. doi: 10.1074/jbc.M110.144790. Epub 2010 Oct 14.
4	A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J Clin Endocrinol Metab. 2007 Apr;92(4):1542-8. doi: 10.1210/jc.2006-2354. Epub 2007 Jan 30.
5	Modulation of IGF1R Signaling Pathway by GIGYF1 in High Glucose-Induced SHSY-5Y Cells.DNA Cell Biol. 2018 Dec;37(12):1044-1054. doi: 10.1089/dna.2018.4336. Epub 2018 Oct 30.
6	Activation of IGF1R by DARPP-32 promotes STAT3 signaling in gastric cancer cells.Oncogene. 2019 Jul;38(29):5805-5816. doi: 10.1038/s41388-019-0843-1. Epub 2019 Jun 24.
7	APBB1 reinforces cancer stem cell and epithelial-to-mesenchymal transition by regulating the IGF1R signaling pathway in non-small-cell lung cancer cells.Biochem Biophys Res Commun. 2017 Jan 1;482(1):35-42. doi: 10.1016/j.bbrc.2016.11.030. Epub 2016 Nov 9.