nonsyndromic congenital nail disorder 3
Findings
No curated finding names nonsyndromic congenital nail disorder 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007900), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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.
- LeukonychiaHPOHP:0001820
- 25 of 25 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 25 reported patients
- Abnormal skin morphologyHPOHP:0011121
- 0 of 25 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.
- PLCD1HGNC:9060
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: nonsyndromic congenital nail disorder 3
- Also called
- inherited isolated nail anomaly caused by mutation in PLCD1nail disorder, nonsyndromic congenital, 3, (leukonychia)nail disorder, nonsyndromic congenital, type 3nonsyndromic congenital nail disorder type 3PLCD1 inherited isolated nail anomaly