Autosomal recessive congenital ichthyosis

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Autosomal recessive congenital ichthyosis

ORPHA:281097Clinical group

Also called ARCI

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes reported in subtypes

ABCA12ALOX12BALOXE3ASPRV1CERS3CSTACYP4F22LIPNNIPAL4PNPLA1SDR9C7SERPINB8SULT2B1TGM1

Orphanet records these genes on 7 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0017265MONDO 17265UMLS C1274215

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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