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Nonsyndromic congenital nail disorder 3(NDNC3)

MedGen UID:
107463
•Concept ID:
C0544855
•
Congenital Abnormality
Synonyms: LEUKONYCHIA TOTALIS AND/OR PARTIALIS; NDNC3
 
Gene (location): PLCD1 (3p22.2)
 
Monarch Initiative: MONDO:0007900
OMIM®: 151600

Definition

Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. [from MONDO]

Clinical features

From HPO
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Concave nail
MedGen UID:
66369
•Concept ID:
C0221261
•
Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
See: Feature record | Search on this feature
Leukonychia
MedGen UID:
68698
•Concept ID:
C0240182
•
Finding
White discoloration of the nails.
See: Feature record | Search on this feature
Abnormal skin morphology
MedGen UID:
869110
•Concept ID:
C4023528
•
Anatomical Abnormality
Any morphological abnormality of the skin.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Charng WL, Nikolov M, Shrestha I, Seeley MA, Josyula NS, Justice AE, Dobbs MB, Gurnett CA
J Med Genet 2024 Jun 20;61(7):699-706. doi: 10.1136/jmg-2024-109846. PMID: 38663984Free PMC Article

Prognosis

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M
Eur J Hum Genet 2008 Mar;16(3):300-4. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201982. PMID: 18197197

Clinical prediction guides

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M
Eur J Hum Genet 2008 Mar;16(3):300-4. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201982. PMID: 18197197

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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