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Porphyria variegata
1 OMIM reference -
2 associated genes
4 connected diseases
5 signs/symptoms
Disease Type of connection
Porphyria cutanea tarda
Autosomal dominant beta2-microglobulinic amyloidosis
Hemochromatosis type 3
Congenital atransferrinemia
Synonym(s):
- Protoporphyrinogen oxidase deficiency
- Variegate porphyria
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HFE Q30201613609
PPOX P50336600923
Very frequent
- Autosomal dominant inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Skin photosensitivity
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment