Inherited ichthyosis

Summary

Inherited ichthyosis (MONDO:0015947) is a disease (an umbrella term covering 13 Mondo subtypes). A subtype of ichthyosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (France)
• Umbrella term: 13 Mondo subtypes

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	1.33	France	Not yet validated

Identifiers

Disease identifiers

Field	Value
Canonical name	inherited ichthyosis
Mondo ID	MONDO:0015947
Orphanet	183435
ICD-10-CM	Q80
SNOMED CT	13059002
UMLS	C0856562
MedGen	797407
GARD	0020261
MedDRA	10021202
Is cancer (heuristic)	no

Also known as: congenital ichthyosis of skin · genetic ichthyosis · hereditary ichthyosis (disease) · inherited genetic ichthyosis

Data availability: 12 cell lines.

Disease family

This is a subtype of ichthyosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › epidermal disease › ichthyosis › inherited ichthyosis

Related subtypes (2): acquired ichthyosis, ichthyosis, follicular

Subtypes (13): congenital cataract-ichthyosis syndrome, Netherton syndrome, ichthyosis-oral and digital anomalies syndrome, recessive X-linked ichthyosis, neonatal ichthyosis-sclerosing cholangitis syndrome, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, peeling skin syndrome, ichthyosis vulgaris, ichthyosis linearis circumflexa, IFAP syndrome, ichthyosis hystrix, ichthyosis with erythrokeratoderma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.