Rare Diseases Symptoms Automatic Extraction

Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.

[lamellar ichthyosis]

The cytochrome P450 (CYP) 4 family of enzymes contains several recently identified membersthat are referred to as “orphan P450s” because their endogenous substrates are unknown.Human CYP4V2 and CYP4F22 are two such orphan P450s that are strongly linked to ocular andskin disease, respectively. Genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti’s crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis. The strong gene–disease associations provideunique opportunities for elucidating the substrate specificity of these orphan P450s and unraveling thebiochemical pathways that may be impacted in patients with CYP4V2 and CYP4F22 functional deficits.

Diseases presenting "respectively" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cushing syndrome
  • cystinuria
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • harlequin ichthyosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • liposarcoma
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • triple a syndrome
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom