Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Insulin-like growth factor 1 transport protein deficiency

The deficiency of IGF transport protein is an autosomal recessive disorder. It is characterized by mild growth and developmental delay which cannot be improved by growth hormone (GH) substitution. Characteristically, GH application is not followed by an increase of IGF in plasma.

Systematic

Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
IGFBP3
Insulin-like growth factor 1 deficiency
Insulin-like growth factor 1 resistance
Insulin-like growth factor 1 transport protein deficiency
IGFALS
Laron syndrome
SH2B1

References:

1.

Ueki I et al. (2000) Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.

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2.

Leong SR et al. (1992) Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex.

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3.

Dai J et al. (1992) Molecular cloning of the acid-labile subunit of the rat insulin-like growth factor binding protein complex.

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4.

Domené HM et al. (2004) Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.

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5.

Domené HM et al. (2007) Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.

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6.

Baxter RC et al. (1994) Purification and characterization of the acid-labile subunit of rat serum insulin-like growth factor binding protein complex.

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7.

Boisclair YR et al. (1996) Organization and chromosomal localization of the gene encoding the mouse acid labile subunit of the insulin-like growth factor binding complex.

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8.

OMIM.ORG article

Omim 601489 [^]
Update: May 9, 2019