autosomal recessive congenital ichthyosis
Information
- Disease name
- autosomal recessive congenital ichthyosis
- Disease ID
- DOID:0060655
- Description
- "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization." [url:https\://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, url:https\://www.ncbi.nlm.nih.gov/books/NBK1420/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20643494]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03041038 | Completed | Phase 2 | The Efficacy and Safety of Secukinumab in Patients With Ichthyoses | December 2016 | August 31, 2020 |
| NCT05312073 | Unknown status | N/A | Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis | April 2022 | February 2023 |
- Disase is a (Disease Ontology)
- DOID:1697
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q80.2
- Cross Reference ID (Disease Ontology)
- MESH:D017490
- Cross Reference ID (Disease Ontology)
- MIM:PS242300
- Cross Reference ID (Disease Ontology)
- NCI:C84805
- Cross Reference ID (Disease Ontology)
- ORDO:281097
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:12215009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079154
- Exact Synonym (Disease Ontology)
- ARCI
- Exact Synonym (Disease Ontology)
- lamellar ichthyosis
- Exact Synonym (Disease Ontology)
- non bullous congenital ichthyosiform erythroderma