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2 OMIM references -
2 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Porphyria cutanea tarda
Diaphyseal medullary stenosis - bone malignancy

HFE MTAP
UROD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UROD
(0.63)
MTAP



Citations in the biomedical literature:


Porphyria cutanea tarda
HFE UROD
Diaphyseal medullary stenosis - bone malignancy
MTAP



Porphyria cutanea tarda
Diaphyseal medullary stenosis - bone malignancy

Synonym(s):
- PCT

Synonym(s):
- Bone dysplasia - medullary fibrosarcoma
- Diaphyseal medullary stenosis - malignant fibrous histiocytoma
- Hardcastle syndrome

Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare renal disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare oncologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

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:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: D017119
External references:
1 OMIM reference -
1 MeSH reference: C536169

Porphyria cutanea tarda

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


Diaphyseal medullary stenosis - bone malignancy

(no data available)