Palmoplantar keratoderma, nonepidermolytic, focal 1

Synonyms: Palmoplantar keratoderma, nonepidermolytic, focal

Summary

Focal nonepidermolytic palmoplantar keratoderma-1 (FNEPPK1) is an autosomal dominant skin disorder characterized by large, hard, compact, painful masses of keratin that develop at sites of recurrent friction, principally on the feet, though also on the palms and other sites, without evidence of epidermolysis (summary by Kelsell et al., 1995). [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

KRT16
35 tests
Also known as: CK16, FNEPPK, K16, K1CP, KRT16A, NEPPK, PC1, KRT16
Summary: keratin 16

Imported from Human Phenotype Ontology (HPO)

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Abnormality of limbs
- Palmoplantar keratoderma
  Palmoplantar keratoderma
  - MedGen UID: 1635750
  - Concept ID: C4551675
  - Finding: Disease or Syndrome
  Abnormality of limbs
  See: Feature record | Search on this feature
Abnormality of the integument
- Epidermolytic ichthyosis
  Epidermolytic ichthyosis
  - MedGen UID: 38179
  - Concept ID: C0079153
  - Finding: Disease or Syndrome
  Abnormality of the integument
  See: Feature record | Search on this feature
- Keratosis pilaris
  Keratosis pilaris
  - MedGen UID: 82664
  - Concept ID: C0263383
  - Finding: Disease or Syndrome
  Abnormality of the integument
  See: Feature record | Search on this feature
- Perioral hyperkeratosis
  Perioral hyperkeratosis
  - MedGen UID: 1780425
  - Concept ID: C5539769
  - Finding: Disease or Syndrome
  Abnormality of the integument
  See: Feature record | Search on this feature
- Phrynoderma
  Phrynoderma
  - MedGen UID: 83101
  - Concept ID: C0334013
  - Finding: Disease or Syndrome
  Abnormality of the integument
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

Consumer resources

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