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GTR Home > Conditions/Phenotypes > Short stature due to primary acid-labile subunit deficiency

Short stature due to primary acid-labile subunit deficiency

Synonyms
Acid-labile subunit deficiency; Acid-labile subunit, deficiency of
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Acid-labile subunit deficiency is characterized by severely reduced serum insulin-like growth factor I (IGF1; 147440) and IGF-binding protein-3 (IGFBP3; 146732) concentrations that are incongruent with an associated mild growth retardation (height, -2 to -3 SD before and during puberty). Pubertal delay in boys and insulin insensitivity are common findings (summary by Domene et al., 2011). [from OMIM]

Available tests

7 tests are in the database for this condition.

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Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACLSD, ALS, IGFALS
    Summary: insulin like growth factor binding protein acid labile subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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