Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)

Das PASH-Syndrom ist eine autosomal dominante Hauterkrankung, die durch Mutationen im NCSTN-Gen ausgelöst wird. Zu dem Syndrom gehören Pyoderma gangraenosum, Acne und Hidradenitis suppurativa.

Gliederung

Erbliche Hauterkrankungen
Autoinflammation mit Arthritis und Dyskeratose
Chronische atypische neutrophile Dermatose mit Lipodystrophie und erhöhter Temperatur
Epidermolysis bullosa
Familiäre Acne inversa 1
Interleukin 36-Rezeptor-Antagonist-Mangel
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm
Neigung zu Vitiligo-assoziierter multipler Autoimmunerkrankung 1
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Periodisches Fieber mit Beginn im Kindesalter-Pannikulitis-Dermatose-Syndrom
Piebaldismus
Pityriasis rubra pilaris
Psoriasis 02
Psoriasis 14
Psoriasis 15
Pyoderma gangraenosum, Acne und Hidradenitis suppurativa (PASH)
NCSTN
Pyogene Arthritis - Pyoderma gangraenosum - Akne - Syndrom

Referenzen:

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Foncin JF et. al. (1985) [Alzheimer's presenile dementia transmitted in an extended kindred].

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2.

Zubenko GS et. al. (1998) A genome survey for novel Alzheimer disease risk loci: results at 10-cM resolution.

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3.

Kehoe P et. al. (1999) A full genome scan for late onset Alzheimer's disease.

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4.

Yu G et. al. (2000) Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.

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5.

Hiltunen M et. al. (2001) Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.

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6.

Goutte C et. al. (2002) APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos.

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7.

Kopan R et. al. (2002) Aph-2/Nicastrin: an essential component of gamma-secretase and regulator of Notch signaling and Presenilin localization.

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8.

Dermaut B et. al. (2002) The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.

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9.

Steiner H et. al. (2002) PEN-2 is an integral component of the gamma-secretase complex required for coordinated expression of presenilin and nicastrin.

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10.

Lee SF et. al. (2002) Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.

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11.

Rozmahel R et. al. (2002) Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.

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12.

Orlacchio A et. al. (2002) Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.

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13.

Pasternak SH et. al. (2003) Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.

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14.

FELDMAN RG et. al. (1963) FAMILIAL ALZHEIMER'S DISEASE.

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15.

Helisalmi S et. al. (2004) Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population.

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16.

Kaether C et. al. (2004) The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity.

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17.

Wang B et. al. (2010) Gamma-secretase gene mutations in familial acne inversa.

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18.

Pink AE et. al. (2011) PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

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19.

Lu P et. al. (2014) Three-dimensional structure of human γ-secretase.

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20.

Marzano AV et. al. (2014) Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

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21.

Marzano AV et. al. (2016) Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.

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22.

Niv D et. al. (2017) Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH) syndrome with recurrent vasculitis.

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23.

Join-Lambert O et. al. (2015) Remission of refractory pyoderma gangrenosum, severe acne, and hidradenitis suppurativa (PASH) syndrome using targeted antibiotic therapy in 4 patients.

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Update: 8. Mai 2019