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Hereditary Nasal Parakeratosis (HNPK) is an inherited autosomal recessive skin disorder.
25 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
Hereditary Nasal Parakeratosis (HNPK) is an inherited autosomal recessive skin disorder. The disorder causes crusts and fissures on the nasul planum. A missense mutation in SUV39H2 is most likely the cause for HNPK. The SUV39H2 enzyme is involved in histone methylation and epigenetic silencing.
Kliniske egenskaper
Clinical signs become generally apparent at 6-24 months of age and range from mild (dorsal nasal planum hyperkeratosis) to severe lesions (fissures and erosions).
Tilleggsinformasjon
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Referanser
Pubmed ID: 24098150
Omia ID: 1373