Information on PDJ1

Basic details

Name: Periodontitis 1, juvenile | Acronym: PDJ1
Alt. names:

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

No. of cases in DB: 0 | First reported in: 2000

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

OMIM: 170650

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Early diagnosis to allow control of oral infections may preserve dentition. Refs. PMIDs: 14244097; 14252683; 162525; 2943312; 2965550; 7623262; 9085215; 10593994; 10581027; 11106356; 10662807; 12509601; 12637913; 14974080; 15606524; 18945301; 19816003; 20359428; 21393975

Management

Description of management option has not been reviewed yet.

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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 Severe periodontitisarrow icon 4 (99.9%) 0 (0.0%) 0 (0.0%)
2 Palmoplantar hyperkeratosisarrow icon 0 (0.0%) 0 (0.0%) 4 (99.9%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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