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2 OMIM references -
2 associated genes
18 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Porphyria cutanea tarda
Congenital atransferrinemia

HFE TF
UROD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HFE
(0.52)
TF



Citations in the biomedical literature:


Porphyria cutanea tarda
HFE UROD
Congenital atransferrinemia
TF



Porphyria cutanea tarda
Congenital atransferrinemia

Synonym(s):
- PCT

Synonym(s):
- Congenital hypotransferrinemia

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 hematologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: D017119
External references:
1 OMIM reference -
1 MeSH reference: C538259


COMMON
SIGNS
- Storage liver disease


Porphyria cutanea tarda
Congenital atransferrinemia

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


Very frequent
- Anaemia
- Autosomal recessive inheritance

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas