IFAP syndrome 2
MONDO:0100221Mondo
Findings
No curated finding names IFAP syndrome 2 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
12 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.
- Ichthyosis follicularisHPOHP:0031291
- 10 of 12 reported patients
- PhotophobiaHPOHP:0000613
- 10 of 12 reported patients
- Posterior blepharitisHPOHP:0025610
- 8 of 12 reported patients
- Sparse hairHPOHP:0008070
- 6 of 12 reported patients
- AtrichiaHPOHP:0500262
- 5 of 12 reported patients
- CataractHPOHP:0000518
- 4 of 12 reported patients
- KeratitisHPOHP:0000491
- 4 of 12 reported patients
- StrabismusHPOHP:0000486
- 4 of 12 reported patients
- Angular cheilitisHPOHP:0030318
- 2 of 12 reported patients
- Perioral erythemaHPOHP:0033194
- 2 of 12 reported patients
- Keratoconjunctivitis siccaHPOHP:0001097
- 1 of 12 reported patients
- Nail dystrophyHPOHP:0008404
- 1 of 12 reported patients
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.
- SREBF1HGNC:11289
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: IFAP syndrome 2
- Also called
- ichthyosis , follicular, with atrichia and photophobia syndrome 2ichthyosis follicularis, atrichia, and photophobia syndrome 2IFAP2