ODCs

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Porphyria cutanea tarda

2 OMIM references -
2 associated genes
11 connected diseases
18 signs/symptoms

Disease	Type of connection
Hepatoerythropoietic porphyria
Porphyria variegata
Autosomal dominant beta2-microglobulinic amyloidosis
Hemochromatosis type 3
Giant cell glioblastoma
Gliosarcoma
Diaphyseal medullary stenosis - bone malignancy
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Pulverulent cataract
Congenital atransferrinemia

Synonym(s): - PCT

Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare renal disease - Rare skin disease		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		External references: 2 OMIM references - 1 MeSH reference: D017119

Gene symbol	UniProt reference	OMIM reference
HFE	Q30201	613609
UROD	P06132	613521

Very frequent

- Autosomal dominant inheritance
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Skin photosensitivity
- Thin skin
- 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