Details of Disease | DrugMAP

General Information of Disease (ID: DISW3WR3)

Disease Name	Short stature due to primary acid-labile subunit deficiency
Synonyms	acid-labile SUBUNIT deficiency; ACLSD; acid-labile subunit, deficiency of
Definition	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.
Disease Hierarchy	DISYKSRF: Genetic disease DISHEQ1Z: Growth hormone insensitivity syndrome DISW3WR3: Short stature due to primary acid-labile subunit deficiency
Disease Identifiers	MONDO ID MONDO_0014420 UMLS CUI C3900122 OMIM ID 615961 MedGen ID 859716 Orphanet ID 140941

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPSB3	OTHGEE2K	Limited	Genetic Variation	[1]
IGFALS	OTTWCZYM	Strong	Autosomal recessive	[2]
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References

1	Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and invitro functional studies.Mol Cell Endocrinol. 2016 Jul 5;429:19-28. doi: 10.1016/j.mce.2016.03.031. Epub 2016 Mar 25.
2	Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med. 2004 Feb 5;350(6):570-7. doi: 10.1056/NEJMoa013100.