Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Mitchell-Riley-Syndrom

Das Mitchell-Riley-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen im RFX6-Gen hervorgerufen wird. Das Syndrom ist neben einem neonatalen Diabetes durch eine Pankreas- und Gallenblasenhypo- oder -aplasie gekennzeichnet.

Gliederung

Neonataler Diabetes mellitus
Leprechaunismus
Mitchell-Riley-Syndrom
RFX6
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Nierenzysten und Diabetes (RCAD)
Pankreopriver Diabetes mellitus
Permanenter neonataler Diabetes mellitus
Rabson-Mendenhall-Syndrom
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

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OMIM.ORG article

Omim 615710 [^]
Update: 29. April 2019