Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant (HCVAD)

Alias:
Vitamin a Deficiency
Hcvad
Vitamin a Deficiency with Cornea Ulceration or Xerosis
Hereditary Hypercarotenemia and Vitamin a Deficiency
Vitamin a Deficiency with Cornea Xerosis
Conjunctival Xerosis with Bitot's Spots
Hypercarotenemia and Hypovitaminosis a
Bitot Spots in the Young Child
Hypovitaminosis a
Bitot Spots
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant, also known as vitamin a deficiency, is related to keratomalacia and xerophthalmia. An important gene associated with Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant is BCO1 (Beta-Carotene Oxygenase 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are Negative genetic interaction between PTTG1-/- and PTTG1+/+ and Reduced mammosphere formation
Related ID:
MESH:D014802
ICD11:1040403412

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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9
72
5

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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