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Hypercarotenemia and vitamin A deficiency, autosomal recessive

MedGen UID:
395578
Concept ID:
C2678266
Disease or Syndrome
Synonym: Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
 
Monarch Initiative: MONDO:0010182
OMIM®: 277350

Clinical features

From HPO
Reduced circulating vitamin A concentration
MedGen UID:
1853267
Concept ID:
C5848160
Finding
Concentration of vitamin A below the lower limit of normal in the blood circulation.
Bitot spots of the conjunctiva
MedGen UID:
893037
Concept ID:
C4024868
Finding
Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.

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