autosomal recessive congenital ichthyosis 11
MONDO:0011218Mondo
Findings
No curated finding names autosomal recessive congenital ichthyosis 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 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.
- BlepharitisHPOHP:0000498
- 1 of 1 reported patient
- Brittle hairHPOHP:0002299
- 3 of 3 reported patients
- Congenital ichthyosiform erythrodermaHPOHP:0007431
- 3 of 3 reported patients · Congenital onset
- 1 of 1 reported patient
- Curly eyelashesHPOHP:0007665
- 3 of 3 reported patients
- Curly hairHPOHP:0002212
- 4 of 4 reported patients
- Pili tortiHPOHP:0003777
- 3 of 3 reported patients
- PruritusHPOHP:0000989
- 3 of 3 reported patients
- Sparse body hairHPOHP:0002231
- 1 of 1 reported patient
- Sparse eyebrowHPOHP:0045075
- 4 of 4 reported patients
- Sparse eyelashesHPOHP:0000653
- 1 of 1 reported patient
- Sparse hairHPOHP:0008070
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
Show the remaining 5
- PhotophobiaHPOHP:0000613
- 3 of 4 reported patients
- Conical primary incisorHPOHP:0011082
- 1 of 3 reported patients
- Corneal opacityHPOHP:0007957
- 1 of 3 reported patients
- Abnormal nail morphologyHPOHP:0001597
- 0 of 1 reported patient
- HypohidrosisHPOHP:0000966
- 0 of 3 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.
- ST14HGNC:11344
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2015
- Supportive · Orphanet · Autosomal recessive · 2021
- KRT1HGNC:6412
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
Other names
9 names
Resolves to: autosomal recessive congenital ichthyosis 11
- Also called
- autosomal recessive congenital ichthyosis type 11hypotrichosis-congenital ichthyosis syndromeichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosisichthyosis-follicular atrophoderma-hypotrichosis syndromeichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndromeichthyosis-hypotrichosis syndromeichthyosis, congenital, autosomal recessive type 11IFAH syndromeIHS