congenital reticular ichthyosiform erythroderma
MONDO:0012208Mondo
Findings
No curated finding names congenital reticular ichthyosiform erythroderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Decreased body weightHPOHP:0004325
- 5 of 5 reported patients
- ErythrodermaHPOHP:0001019
- 6 of 6 reported patients · Congenital onset
- HypertrichosisHPOHP:0000998
- 6 of 6 reported patients
- IchthyosisHPOHP:0008064
- 6 of 6 reported patients
- Scaling skinHPOHP:0040189
- 7 of 7 reported patients
- Short statureHPOHP:0004322
- 6 of 6 reported patients
- Hypoplastic nipplesHPOHP:0002557
- 6 of 7 reported patients
- EctropionHPOHP:0000656
- 5 of 7 reported patients
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- 4 of 6 reported patients · Congenital onset
- Palmoplantar hyperkeratosisHPOHP:0000972
- 4 of 6 reported patients
- StrabismusHPOHP:0000486
- 3 of 6 reported patients
- NystagmusHPOHP:0000639
- 2 of 6 reported patients
Show the remaining 2
- PruritusHPOHP:0000989
- 2 of 6 reported patients
- ClubbingHPOHP:0001217
- 0 of 1 reported patient
Genes
2 genes
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.
Where it sits
- A kind of
Other names
4 names
Resolves to: congenital reticular ichthyosiform erythroderma
- Also called
- CRIEichthyosis variegataichthyosis with confettiIWC