Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Porokeratose 3 ist eine seltene autosomal dominante Hauterkrankung, die durch Mutationen des MVK-Gens hervorgerufen wird. Die Hauterscheinung besteht in ringförmigen keratotischen Plaques, die sich zentrifugal ausbreiten. Die erscheinen vor allem an sonnenexponierten Stellen mit dem Begin des Erwachsenenalters.
Mevalonat-Kinase assoziierte entzündliche Erkrankungen
|
||||
|
Hyper-IgD-Syndrom
|
|||
|
|
Mevalonsäure-Azidurie
|
|||
|
Porokeratose 3
|
|||
|
|
|
MVK
|
||
|
|
|
|
|
| 1. |
Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. 
|
| 2. |
Pirozzi DJ et al. (1976) Disseminated superficial actinic porokeratosis. Analysis of an affected family.
|
| 3. |
Schamroth JM et al. (1997) Porokeratosis of Mibelli. Overview and review of the literature.
|
| 4. |
Moreland ME et al. (1981) Porokeratosis. Two morphologic forms within a family.
|
| 5. |
Anderson DE et al. (1969) Disseminated superficial actinic porokeratosis. Genetic aspects.
|
| 6. |
Chernosky ME et al. (1969) Disseminated superficial actinic porokeratosis. Clinical studies and experimental production of lesions.
|
| 7. |
None (1972) Linear porokeratosis in a family with DSAP.
|
| 8. |
Chernosky ME et al. (1967) Disseminated superficial actinic porokeratosis (DSAP).
|
| 9. |
Rahbari H et al. (1974) Linear porokeratosis. A distinctive clinical variant of porokeratosis of Mibelli.
|
| 10. |
Commens CA et al. (1987) Linear porokeratosis in two families with disseminated superficial actinic porokeratosis.
|
| 11. |
Cao HM et al. (2012) Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21.
|
| 12. |
None (1991) Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis.
|
| 13. |
Frank J et al. (2007) Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association?
|
| 14. |
Frank J et al. (2007) Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned.
|
| 15. |
Zhang ZH et al. (2005) A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis.
|
| 16. |
Zhang Z et al. (2004) Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.
|
| 17. |
Xia JH et al. (2000) Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
|
| 18. |
Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience.
|
| 19. |
Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
|
| 20. |
Touitou I et al. (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes.
|
| 21. |
Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.
|
| 22. |
Orphanet article Orphanet ID 79358
|
| 23. |
OMIM.ORG article Omim 175900
|
 |
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944 Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum |