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2 OMIM references -
2 associated genes
18 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
4 signs/symptoms
Porphyria cutanea tarda
Hepatoerythropoietic porphyria

HFE UROD
UROD


COMMON
GENES
UROD



Citations in the biomedical literature:


Porphyria cutanea tarda
HFE UROD
Hepatoerythropoietic porphyria



Porphyria cutanea tarda
Hepatoerythropoietic porphyria

Synonym(s):
- PCT

Synonym(s):
- HEP

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare renal disease
- Rare skin disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D017119
External references:
1 OMIM reference -
1 MeSH reference: D017121


COMMON
SIGNS
- Autosomal dominant inheritance
- Skin photosensitivity
- Thin skin


Porphyria cutanea tarda
Hepatoerythropoietic porphyria

Very frequent
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Abnormal scarring / cheloids / hypertrophic scars
- Acute palsy
- Cirrhosis
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Cutaneous edema
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Hirsutism / hypertrichosis / Increased body hair
- Liver / hepatic steatosis
- Obnubilation / coma / lethargia / desorientation
- Storage liver disease


Very frequent
- Hemolytic anemia