News
Somatic mutations in the potassium channel gene KCNJ5 in aldosterone-producing unilateral adrenal adenomas
In the range of causes and the pathogenetic understanding of hyperaldosteronism, as the most frequent form of endocrine hypertension, genetic changes have previously played only a minor role. This has fundamentally changed...
Mutation BRAF V600E in Hairy Cell Leukemia
Hairy cell leukemia is characterized by progressive pancytopenia and splenomegaly and in the typical situation the initial diagnosis is easily made in bone marrow, or rarely in peripheral blood using flow cytometry and...
CANDLE Syndrome
CANDLE syndrome (chronic atypical neutrophilic dermatosis with lipodystrophy and temperature elevation) is a rare chronic autoinflammatory disease with early onset in childhood, most often within the first weeks of life. Fever...
IL 28 genotype and response to hepatitis C combination therapy
The standard therapy of chronic hepatitis C genotype 1 infection is the combined treatment with pegylated interferon and ribavirin. The success of this treatment depends on viral factors (viral load) and host factors (ethnicity,...
Grey Platelet Syndrome
The Gray Platelet Syndrome is a form of hereditary thrombocytopenia. Since it was first described in 1971, cases have been reported very rarely, mostly with autosomal recessive inheritance. Clinically, the phenotype is...
Protein S deficiency
The vitamin K-dependent protein S is one of the physiological coagulation inhibitors and its antithrombotic effect is primarily based on the inactivation of coagulation factors Va and VIIIa. In contrast, congenital or acquired...
Crouzon Syndrome (Craniofacial Dysostosis type 1, CFD1)
Crouzon syndrome follows autosomal dominant inheritance and occurs as sporadic and familial cases in roughly equal proportions. It belongs, together with Apert, Muenke, Pfeiffer and Saethre-Chotzen syndromes, to the group of...
Muenke Syndrome
Muenke syndrome (FGFR3 coronal syndrome, Muenke-type craniosynostosis, OMIM 602,849) is characterized by the premature closure of the coronal suture of the skull during development (coronal craniosynostosis), with resulting...
Multiple sulfatase deficiency
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disease. Defects in the SUMF1 gene (sulfatase-modifying factor 1 gene) result in multiple sulfatase deficiency (MSD) due to the impaired...
X-linked dominant hypophosphatemic rickets
X-linked dominant hypophosphatemic rickets (XLH) is characterized by hypophosphatemia, which results from renal phosphate loss. The prevalence is 1:20.000. Both sexes are affected. The main indications are hypophosphatemia and...