Information on CANDF9

Basic details

Name: Candiasis, familial, 9 | Acronym: CANDF9
Alt. names:

Gene: IL17RC | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2015

Last updated on: 2023-02-28 16:41:18 by

OMIM: 616445

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals have been described as susceptible to Candida albicansinfections, and awareness may allow early detection and early treatment of infections. Refs. PMIDs: 25918342

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical term Present Absent Unreported
1 Mucocutaneous candidiasisarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Infantile onsetarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
3 Esophageal candidiasisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
4 Childhood onsetarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
5 Onychomycosisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
6 Recurrent aphthous stomatitisarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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