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Insulin-like growth factor I deficiency

MedGen UID:
373337
Concept ID:
C1837475
Disease or Syndrome
Synonyms: Growth retardation with sensorineural deafness and mental retardation; IGF1 deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): IGF1 (12q23.2)
OMIM®: 608747
Orphanet: ORPHA73272

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Decreased body weight
MedGen UID:
505609
Concept ID:
CN003826
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Hyperactivity
MedGen UID:
504585
Concept ID:
CN000708
Finding
Motor delay
MedGen UID:
504779
Concept ID:
CN001164
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Osteopenia
MedGen UID:
409692
Concept ID:
C1968854
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Abnormality of metabolism/homeostasis
MedGen UID:
446429
Concept ID:
CN001754
Finding
Radial deviation of finger
MedGen UID:
473540
Concept ID:
C2178410
Finding
Clinodactyly
MedGen UID:
807884
Concept ID:
CN220788
Finding
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGInsulin-like growth factor I deficiency

Recent clinical studies

Etiology

Teissier R, Flechtner I, Colmenares A, Lambot-Juhan K, Baujat G, Pauwels C, Samara-Boustani D, Beltrand J, Simon A, Thalassinos C, Crosnier H, Latrech H, Pinto G, Le Merrer M, Cormier-Daire V, Souberbielle JC, Polak M
Eur J Endocrinol 2014 Jun;170(6):847-54. Epub 2014 Mar 24 doi: 10.1530/EJE-14-0071. [Epub ahead of print] PMID: 24662318
Fang P, Girgis R, Little BM, Pratt KL, Guevara-Aguirre J, Hwa V, Rosenfeld RG
J Clin Endocrinol Metab 2008 Mar;93(3):1030-7. Epub 2007 Dec 11 doi: 10.1210/jc.2007-2022. [Epub ahead of print] PMID: 18073295
Hellström A, Engström E, Hård AL, Albertsson-Wikland K, Carlsson B, Niklasson A, Löfqvist C, Svensson E, Holm S, Ewald U, Holmström G, Smith LE
Pediatrics 2003 Nov;112(5):1016-20. PMID: 14595040
Sivan B, Lilos P, Laron Z
J Pediatr Endocrinol Metab 2003 Apr-May;16(4):509-20. PMID: 12793602
Rosenbloom AL, Guevara-Aguirre J, Berg MA, Francke U
J Clin Endocrinol Metab 1998 Jul;83(7):2373-5. doi: 10.1210/jcem.83.7.4972. PMID: 9661611

Diagnosis

Teissier R, Flechtner I, Colmenares A, Lambot-Juhan K, Baujat G, Pauwels C, Samara-Boustani D, Beltrand J, Simon A, Thalassinos C, Crosnier H, Latrech H, Pinto G, Le Merrer M, Cormier-Daire V, Souberbielle JC, Polak M
Eur J Endocrinol 2014 Jun;170(6):847-54. Epub 2014 Mar 24 doi: 10.1530/EJE-14-0071. [Epub ahead of print] PMID: 24662318
Cohen J, Blethen S, Kuntze J, Smith SL, Lomax KG, Mathew PM
Drugs R D 2014 Mar;14(1):25-9. doi: 10.1007/s40268-014-0039-7. PMID: 24639006Free PMC Article
Backeljauw P, Bang P, Clayton PE, Geffner M, Woods KA
Pediatr Endocrinol Rev 2010 Feb;7 Suppl 1:154-71. PMID: 20463651
Camacho-Hübner C, Woods KA, Miraki-Moud F, Clark A, Savage MO
Growth Horm IGF Res 1999 Jun;9 Suppl B:47-51; discussion 51-2. PMID: 10549306
Laron Z
Curr Opin Pediatr 1993 Aug;5(4):474-80. PMID: 8374676

Therapy

Backeljauw PF, Kuntze J, Frane J, Calikoglu AS, Chernausek SD
Horm Res Paediatr 2013;80(1):47-56. Epub 2013 Jul 20 doi: 10.1159/000351958. [Epub ahead of print] PMID: 23887143
Messina MF, Arrigo T, Valenzise M, Ghizzoni L, Caruso-Nicoletti M, Zucchini S, Chiabotto P, Crisafulli G, Zirilli G, De Luca F
J Endocrinol Invest 2011 Apr;34(4):292-5. Epub 2010 Jun 11 doi: 10.1007/BF03347088. [Epub ahead of print] PMID: 20543555
Aisenberg J, Auyeung V, Pedro HF, Sugalski R, Chartoff A, Rothenberg R, Derr MA, Hwa V, Rosenfeld RG
Horm Res Paediatr 2010;74(6):406-11. Epub 2010 Jul 7 doi: 10.1159/000314968. [Epub ahead of print] PMID: 20606392
Backeljauw P, Bang P, Clayton PE, Geffner M, Woods KA
Pediatr Endocrinol Rev 2010 Feb;7 Suppl 1:154-71. PMID: 20463651
Kemp SF
BioDrugs 2009;23(3):155-63. doi: 10.2165/00063030-200923030-00002. PMID: 19627167

Prognosis

Teissier R, Flechtner I, Colmenares A, Lambot-Juhan K, Baujat G, Pauwels C, Samara-Boustani D, Beltrand J, Simon A, Thalassinos C, Crosnier H, Latrech H, Pinto G, Le Merrer M, Cormier-Daire V, Souberbielle JC, Polak M
Eur J Endocrinol 2014 Jun;170(6):847-54. Epub 2014 Mar 24 doi: 10.1530/EJE-14-0071. [Epub ahead of print] PMID: 24662318
Backeljauw P, Bang P, Clayton PE, Geffner M, Woods KA
Pediatr Endocrinol Rev 2010 Feb;7 Suppl 1:154-71. PMID: 20463651

Clinical prediction guides

Backeljauw PF, Kuntze J, Frane J, Calikoglu AS, Chernausek SD
Horm Res Paediatr 2013;80(1):47-56. Epub 2013 Jul 20 doi: 10.1159/000351958. [Epub ahead of print] PMID: 23887143
Poirier R, Fernandez AM, Torres-Aleman I, Metzger F
Neurosci Lett 2012 Feb 16;509(2):101-4. Epub 2011 Dec 31 doi: 10.1016/j.neulet.2011.12.048. [Epub ahead of print] PMID: 22230888
Messina MF, Arrigo T, Valenzise M, Ghizzoni L, Caruso-Nicoletti M, Zucchini S, Chiabotto P, Crisafulli G, Zirilli G, De Luca F
J Endocrinol Invest 2011 Apr;34(4):292-5. Epub 2010 Jun 11 doi: 10.1007/BF03347088. [Epub ahead of print] PMID: 20543555
Backeljauw P, Bang P, Clayton PE, Geffner M, Woods KA
Pediatr Endocrinol Rev 2010 Feb;7 Suppl 1:154-71. PMID: 20463651
Fang P, Girgis R, Little BM, Pratt KL, Guevara-Aguirre J, Hwa V, Rosenfeld RG
J Clin Endocrinol Metab 2008 Mar;93(3):1030-7. Epub 2007 Dec 11 doi: 10.1210/jc.2007-2022. [Epub ahead of print] PMID: 18073295

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