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Short stature due to primary acid-labile subunit deficiency
Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.
ORPHA:140941Classification level: Disorder
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: E34.3
- OMIM: 615961
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Less than 10 cases have been reported in the literature so far.
Additional findings include subnormal IGF-2, IGFBP-1 and IGFBP-2 levels, as well as microcephaly, and delayed puberty and bone maturation in some cases.
It is caused by homozygous inactivating mutations of the ALS gene (IGFALS; 16p13.3).
Primary ALS deficiency is inherited in an autosomal recessive manner.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009)