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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Pseudohypoaldosteronism type 2E
Hereditary coproporphyria

CUL3 CPOX


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
(0.63)
CPOX



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Hereditary coproporphyria
CPOX



Pseudohypoaldosteronism type 2E
Hereditary coproporphyria

Synonym(s):
- PHA2E

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
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
External references:
1 OMIM reference -
1 MeSH reference: D046349

Hereditary coproporphyria

Very frequent
- Acute abdominal pain / colic
- Autosomal dominant inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Myalgia / muscular pain
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Obnubilation / coma / lethargia / desorientation
- Psychic / behavioural troubles
- Skin photosensitivity
- Thin skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Constipation

Occasional
- Articular / joint pain / arthralgia
- Delirium / hallucination
- Diaphragmatic palsy
- Hyponatremia


Pseudohypoaldosteronism type 2E

(no data available)