Variegate porphyria

Preferred Label : Variegate porphyria;

Symbol : VP;

CISMeF acronym : VP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Porphyria, south african type; Protoporphyrinogen oxidase deficiency; Ppox deficiency; Porphyria variegata;

Description : Variegate porphyria is characterized by cutaneous manifestations, including increased photosensitivity, blistering, skin fragility with chronic scarring of sun-exposed areas, and postinflammatory hyperpigmentation. Acute exacerbations of VP include abdominal pain, the passage of dark urine, and neuropsychiatric symptoms that characterize the acute hepatic porphyrias, such as bulbar paralysis, quadriplegia, motor neuropathy, and weakness of the limbs. In heterozygotes, PPOX activity is decreased by about 50% (summary by Frank et al., 1998).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protoporphyrinogen oxidase gene (PPOX, 600923.0001);

Laboratory abnormalities : Increased urinary porphyrin precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) during acute attacks; Increased urine porphyrins at times; Elevated fecal levels of protoporphyrin and coproporphyrin at all times; Reduced (50%) activity of protoporphyrinogen oxidase (PROTO oxidase);

Prefixed ID : #176200;

Details

Origin ID

176200;

UMLS CUI

C0162532;

Automatic exact mappings (from CISMeF team)
- AVP wt Allele [NCIt concept]
- Cisplatin/Vinblastine [NCIt concept]
- Entire pulmonary vein (great vessel) (body structure) [SNOMED CT concept]
- Prednisolone/Vincristine [NCIt concept]
- V-Series Nerve Agent VP [NCIt concept]
- Vacuolar Protein Sorting [NCIt concept]
- Vasopressin-Neurophysin 2-Copeptin [NCIt concept]
- Viral Particle Unit [NCIt concept]
- obsolete versatile peroxidase activity [GO term]
- predictive value of tests [MeSH Descriptor]
- symbol withdrawn VP [HGNC gene]
- ventral pallium [UBERON concept]
- ventral posterior nucleus of thalamus [UBERON concept]
Currated CISMeF NLP mapping
- Porphyria variegata [ORDO Disease]
- Variegate Porphyria [NCIt concept]
- Variegate porphyria [ICD-11 Sub-sub category]
- Variegate porphyria [MedDRA LLT]
- Variegate porphyria (disorder) [SNOMED CT concept]
- porphyria, variegate [MeSH Descriptor]
- porphyria, variegate [MeSH concept]
- variegate porphyria [Disease (Nov.)]
- variegate porphyria [DO Concept]
- variegate porphyria [SNOMED Notion]
DO Cross reference
- variegate porphyria [DO Concept]
Genes related to phenotype
- Protoporphyrinogen oxidase [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Cutaneous photosensitivity [HPO term]
- Paralysis [HPO term]
- Peripheral neuropathy [HPO term]
- Porphyrinuria [HPO term]
- Psychosis [HPO term]
- Tachycardia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Porphyria variegata [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Porphyria variegata [ORDO Disease]
- Variegate Porphyria [NCIt concept]
- Variegate porphyria [MedDRA LLT]
- Variegate porphyria [ICD-11 Sub-sub category]
- Variegate porphyria (disorder) [SNOMED CT concept]
- porphyria, variegate [MeSH Descriptor]
- porphyria, variegate [MeSH concept]
- variegate porphyria [SNOMED Notion]
- variegate porphyria [DO Concept]
- variegate porphyria [Disease (Nov.)]

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