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Abnormal insulin like growth factor binding protein acid labile subunit level

MedGen UID:
1390394
•Concept ID:
C4476922
•
Finding
HPO: HP:0031034

Definition

A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal insulin like growth factor binding protein acid labile subunit level

Professional guidelines

PubMed

Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

Recent clinical studies

Etiology

Identified plasma proteins related to vascular structure are associated with coarctation of the aorta in children.
Ma S, Zheng J, Xu Y, Yang Z, Zhu Y, Su X, Mo X
Ital J Pediatr 2020 May 19;46(1):63. doi: 10.1186/s13052-020-00830-7. PMID: 32430056Free PMC Article
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Völkl TM, Rauh M, Schöfl C, Dörr HG
Growth Horm IGF Res 2011 Aug;21(4):191-8. Epub 2011 Jun 1 doi: 10.1016/j.ghir.2011.05.001. PMID: 21636299
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group
Horm Res 2009;72(3):129-41. Epub 2009 Sep 1 doi: 10.1159/000232486. PMID: 19729943
Polysomnographic sleep, growth hormone insulin-like growth factor-I axis, leptin, and weight loss.
Rasmussen MH, Wildschiødtz G, Juul A, Hilsted J
Obesity (Silver Spring) 2008 Jul;16(7):1516-21. Epub 2008 May 8 doi: 10.1038/oby.2008.249. PMID: 18464752
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

Diagnosis

Identified plasma proteins related to vascular structure are associated with coarctation of the aorta in children.
Ma S, Zheng J, Xu Y, Yang Z, Zhu Y, Su X, Mo X
Ital J Pediatr 2020 May 19;46(1):63. doi: 10.1186/s13052-020-00830-7. PMID: 32430056Free PMC Article
Novel acid-labile subunit ( IGFALS ) mutation p.T145K (c.434C>A) in a patient with ALS deficiency, normal stature and immunological dysfunction.
Schreiner F, Schoenberger S, Koester B, Domené HM, Woelfle J
Horm Res Paediatr 2013;80(6):424-30. Epub 2013 Nov 27 doi: 10.1159/000355927. PMID: 24296365
IGF-I in human growth: lessons from defects in the GH-IGF-I axis.
Hwa V, Fang P, Derr MA, Fiegerlova E, Rosenfeld RG
Nestle Nutr Inst Workshop Ser 2013;71:43-55. Epub 2013 Jan 22 doi: 10.1159/000342548. PMID: 23502138
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Völkl TM, Rauh M, Schöfl C, Dörr HG
Growth Horm IGF Res 2011 Aug;21(4):191-8. Epub 2011 Jun 1 doi: 10.1016/j.ghir.2011.05.001. PMID: 21636299
Polysomnographic sleep, growth hormone insulin-like growth factor-I axis, leptin, and weight loss.
Rasmussen MH, Wildschiødtz G, Juul A, Hilsted J
Obesity (Silver Spring) 2008 Jul;16(7):1516-21. Epub 2008 May 8 doi: 10.1038/oby.2008.249. PMID: 18464752

Therapy

IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.
Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V, Rose S, Walker J, Shaw N, Barrett T, Frystyk J
J Clin Endocrinol Metab 2014 Apr;99(4):E703-12. Epub 2014 Jan 13 doi: 10.1210/jc.2013-3718. PMID: 24423360
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Völkl TM, Rauh M, Schöfl C, Dörr HG
Growth Horm IGF Res 2011 Aug;21(4):191-8. Epub 2011 Jun 1 doi: 10.1016/j.ghir.2011.05.001. PMID: 21636299
Polysomnographic sleep, growth hormone insulin-like growth factor-I axis, leptin, and weight loss.
Rasmussen MH, Wildschiødtz G, Juul A, Hilsted J
Obesity (Silver Spring) 2008 Jul;16(7):1516-21. Epub 2008 May 8 doi: 10.1038/oby.2008.249. PMID: 18464752
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ
Eur J Endocrinol 2007 Aug;157 Suppl 1:S33-7. doi: 10.1530/EJE-07-0292. PMID: 17785695
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

Prognosis

Identified plasma proteins related to vascular structure are associated with coarctation of the aorta in children.
Ma S, Zheng J, Xu Y, Yang Z, Zhu Y, Su X, Mo X
Ital J Pediatr 2020 May 19;46(1):63. doi: 10.1186/s13052-020-00830-7. PMID: 32430056Free PMC Article
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, Storr HL
Eur J Endocrinol 2017 Dec;177(6):485-501. Epub 2017 Sep 4 doi: 10.1530/EJE-17-0453. PMID: 28870985
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Völkl TM, Rauh M, Schöfl C, Dörr HG
Growth Horm IGF Res 2011 Aug;21(4):191-8. Epub 2011 Jun 1 doi: 10.1016/j.ghir.2011.05.001. PMID: 21636299
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJ
Eur J Endocrinol 2007 Aug;157 Suppl 1:S33-7. doi: 10.1530/EJE-07-0292. PMID: 17785695
The correlation of the IGF-I, IGFBP-3, and ALS generation test to height velocity after 6 months of recombinant growth hormone therapy in girls with Turner syndrome.
Collett-Solberg PF, Pessoa de Queiroz AN, Cardoso ME, Jusan RC, Vaisman M, Guimarães MM
Growth Horm IGF Res 2006 Aug;16(4):240-6. doi: 10.1016/j.ghir.2006.06.002. PMID: 16908209

Clinical prediction guides

IGF-1 Levels, Complex Formation, and IGF Bioactivity in Growth Hormone-Treated Children With Prader-Willi Syndrome.
Bakker NE, van Doorn J, Renes JS, Donker GH, Hokken-Koelega AC
J Clin Endocrinol Metab 2015 Aug;100(8):3041-9. Epub 2015 May 29 doi: 10.1210/jc.2015-1410. PMID: 26050733
IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration.
Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V, Rose S, Walker J, Shaw N, Barrett T, Frystyk J
J Clin Endocrinol Metab 2014 Apr;99(4):E703-12. Epub 2014 Jan 13 doi: 10.1210/jc.2013-3718. PMID: 24423360
IGF-I-IGFBP-3-acid-labile subunit (ALS) complex in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH).
Völkl TM, Rauh M, Schöfl C, Dörr HG
Growth Horm IGF Res 2011 Aug;21(4):191-8. Epub 2011 Jun 1 doi: 10.1016/j.ghir.2011.05.001. PMID: 21636299
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group
Horm Res 2009;72(3):129-41. Epub 2009 Sep 1 doi: 10.1159/000232486. PMID: 19729943
Noonan syndrome: relationships between genotype, growth, and growth factors.
Limal JM, Parfait B, Cabrol S, Bonnet D, Leheup B, Lyonnet S, Vidaud M, Le Bouc Y
J Clin Endocrinol Metab 2006 Jan;91(1):300-6. Epub 2005 Nov 1 doi: 10.1210/jc.2005-0983. PMID: 16263833

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