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Hereditary coproporphyria
1 OMIM reference -
1 associated gene
5 connected diseases
15 signs/symptoms
Disease Type of connection
Pseudohypoaldosteronism type 2E
Familial leiomyomatosis
Fumaric aciduria
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Synonym(s):
(no synonyms)

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

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

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 -
1 MeSH reference: D046349

Gene symbol UniProt reference OMIM reference
CPOX P36551612732
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