Acid-Labile Subunit Deficiency (ACLSD)

Alias:
Short Stature Due to Primary Acid-Labile Subunit Deficiency
Acid-Labile Subunit, Deficiency of
Aclsd
Decreased Levels of Acid Labile Subunit
Growth Disorders
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Acid-Labile Subunit Deficiency, also known as short stature due to primary acid-labile subunit deficiency, is related to insulin-like growth factor i and hyperinsulinism, and has symptoms including polydipsia and muscle weakness. An important gene associated with Acid-Labile Subunit Deficiency is IGFALS (Insulin Like Growth Factor Binding Protein Acid Labile Subunit), and among its related pathways/superpathways are Endochondral ossification with skeletal dysplasias and Senescence and autophagy in cancer. The drugs Zinc cation and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include bone and breast, and related phenotypes are delayed skeletal maturation and delayed puberty
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Basic Information

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Reference
MALACARDS
AR
Newborn
--
5
46
8

Medical Symptom

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Gene & Mutation

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References Literature

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