X-linked thrombocytopenia (THC1/XLT)

X-linked thrombocytopenia (XLT) is a rare bleeding disorder characterized by isolated thrombocytopenia with small-sized platelets. XLT is a milder clinical variant of Wiskott-Aldrich syndrome (WAS), which is characterized by the clinical triad of eczema, susceptibility to infection and thrombocytopenia, while patients with XLT only present with thrombocytopenia. XLT is caused by a mutation in the WAS gene

WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome)

Review on WAGR (Wilms' tumor/aniridia/genitourinary anomalies/mental retardation syndrome), with data on clinics, and the genes involved

Familial melanoma

Review on Familial melanoma, with data on clinics, and the genes involved

Retinoblastoma

Review on Retinoblastoma, with data on clinics, and the genes involved

Hereditary papillary renal cell carcinoma

Review on Hereditary papillary renal cell carcinoma, with data on clinics, and the genes involved

Rothmund-Thomson syndrome (RTS)

Review on Rothmund-Thomson syndrome (RTS), with data on clinics, and the genes involved

Epidermodysplasia verruciformis

Review on Epidermodysplasia verruciformis, with data on clinics, and the genes involved

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)

Review on Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH), with data on clinics, and the genes involved

Shwachman-Diamond syndrome (SDS)

Review on Shwachman-Diamond syndrome (SDS), with data on clinics, and the genes involved