variegate porphyria, childhood-onset
MONDO:0957577Mondo
Findings
No curated finding names variegate porphyria, childhood-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 1 of 1 reported patient
- Atopic dermatitisHPOHP:0001047
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 1 reported patient
- Fragile skinHPOHP:0001030
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High myopiaHPOHP:0011003
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- Increased erythrocyte protoporphyrin concentrationHPOHP:0012187
- 1 of 1 reported patient
- Increased fecal protoporphyrin concentrationHPOHP:0034283
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
Show the remaining 8
- MiliaHPOHP:0001056
- 1 of 1 reported patient
- Pendular nystagmusHPOHP:0012043
- 1 of 1 reported patient
- ScarringHPOHP:0100699
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Sensory neuropathyHPOHP:0000763
- 1 of 1 reported patient
- Short fingerHPOHP:0009381
- 1 of 1 reported patient
- Short metacarpal
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PPOXHGNC:9280
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of