recessive X-linked ichthyosis
Findings
No curated finding names recessive X-linked ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
Definition from the Mondo Disease Ontology (MONDO:0010622), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- IchthyosisHPOHP:0008064
- 35 of 35 reported patients
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- 12 of 35 reported patients
- Very frequent (80% to 99% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Opacification of the corneal stromaHPOHP:0007759
- 0 of 35 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 3
- Palmar hyperlinearityHPOHP:0033252
- 5 of 35 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 3 of 35 reported patients
- Testicular neoplasmHPOHP:0010788
- 2 of 76 reported patients
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
- Narrower terms (1)
Other names
8 names
Resolves to: recessive X-linked ichthyosis
- Also called
- ichthyosis , X-linked, X-linked recessiveichthyosis (disease), X-linkedIchthyosis, X LinkedRXLIsteroid sulfatase deficiencyX-linked ichthyosisX-linked recessive ichthyosisXLI