Details of Disease

General Information of Disease (ID: DISHA2HH)

• Disease Name: Growth delay due to insulin-like growth factor type 1 deficiency
• Synonyms: growth retardation with sensorineural deafness and mental retardation; insulin-like growth Factor 1 deficiency; growth retardation with sensorineural deafness and intellectual disability; insulin-like growth factor I deficiency; IGF1 deficiency; IGF-1 deficiency; primary insulin-like growth factor deficiency; growth delay-deafness- intellectual disability syndrome; growth retardation with deafness and mental retardation due to IGF1 deficiency
• Definition: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISHEQ1Z: Growth hormone insensitivity syndrome
  DISHA2HH: Growth delay due to insulin-like growth factor type 1 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0012110
  MESH ID: C563867
  UMLS CUI: C1837475
  OMIM ID: 608747
  MedGen ID: 373337
  Orphanet ID: 73272
  SNOMED CT ID: 724385009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GH1	TTT3YKH	Limited	Genetic Variation	[1]
GHR	TTHJWYD	moderate	Altered Expression	[2]
IGF1	TTT6LOU	Strong	Biomarker	[3]
MANF	TT56RYE	Strong	Altered Expression	[4]
IGF1	TTT6LOU	Definitive	Autosomal recessive	[5]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DEFB103B	OT8RWY64	Strong	Altered Expression	[6]
DESI1	OTFNIW98	Strong	Biomarker	[7]
PROP1	OT8GF6N8	Strong	Genetic Variation	[8]
SERPINA7	OTUYVTSU	Strong	Biomarker	[9]
SLC35G1	OTKZUA8O	Strong	Biomarker	[7]
STAT5B	OTZVPEBT	Strong	Genetic Variation	[10]
IGF1	OTIIZR61	Definitive	Autosomal recessive	[5]

References

• [1] Somatotropic Axis and Obesity: Is There Any Role for the Mediterranean Diet?.Nutrients. 2019 Sep 16;11(9):2228. doi: 10.3390/nu11092228.
• [2] Mechanistic study of the cause of decreased blood 1,25-Dihydroxyvitamin D in sepsis.BMC Infect Dis. 2019 Dec 2;19(1):1020. doi: 10.1186/s12879-019-4529-7.
• [3] Disparate Central and Peripheral Effects of Circulating IGF-1 Deficiency on Tissue Mitochondrial Function.Mol Neurobiol. 2020 Mar;57(3):1317-1331. doi: 10.1007/s12035-019-01821-4. Epub 2019 Nov 15.
• [4] Neurotrophic Factors and Their Receptors Are Altered by the Mere Partial IGF-1 Deficiency.Neuroscience. 2019 Apr 15;404:445-458. doi: 10.1016/j.neuroscience.2019.01.041. Epub 2019 Jan 30.
• [5] Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med. 1996 Oct 31;335(18):1363-7. doi: 10.1056/NEJM199610313351805.
• [6] IGF-1 deficiency in combination with a low basic hBD-2 and hBD-3 gene expression might counteract malignant transformation in pleomorphic adenomas in vitro.Cancer Invest. 2012 Feb;30(2):106-13. doi: 10.3109/07357907.2011.640651.
• [7] Insulin-like growth factor-I deficiency caused by a partial deletion of the IGF-I gene: effects of rhIGF-I therapy.Growth Horm IGF Res. 1999 Jun;9 Suppl B:47-51; discussion 51-2. doi: 10.1016/s1096-6374(99)80081-1.
• [8] Do deficiencies in growth hormone and insulin-like growth factor-1 (IGF-1) shorten or prolong longevity?.Mech Ageing Dev. 2005 Feb;126(2):305-7. doi: 10.1016/j.mad.2004.08.022.
• [9] Insulin-like growth factor 1 deficiency exacerbates hypertension-induced cerebral microhemorrhages in mice, mimicking the aging phenotype.Aging Cell. 2017 Jun;16(3):469-479. doi: 10.1111/acel.12583. Epub 2017 Mar 14.
• [10] STAT5B deficiency: Impacts on human growth and immunity.Growth Horm IGF Res. 2016 Jun;28:16-20. doi: 10.1016/j.ghir.2015.12.006. Epub 2015 Dec 10.