Thymidine kinase 2 deficiency (TK2 deficiency, TK2D) is a rare, genetic mitochondrial myopathy (MDDS - mitochondrial DNA depletion syndrome) caused by mutations in the TK2 gene.
Die Friedreich-Ataxie (FRDA) wird autosomal-rezessiv vererbt, es liegt eine GAA-Expansion im Intron 1 des FXN-Gens vor, was sich mutmaßlich auf die Biogenese von Eisen-Schwefel-Clustern auswirkt. Betroffene haben neben Gangataxie weitere Symptome wie Dysarthrie und Skoliose.
Die Graft-versus-Host-Erkrankung tritt nach allogenen hämatopoetischen Stammzelltransplantationen auf, wenn Epithelzellen des Empfängers durch aktivierte T-Zellen des Spenders geschädigt werden.
Die Neurofibromatose Typ 1 tritt bei etwa 1/3.000 Lebendgeburten auf. Die Krankheit wird autosomal-dominant vererbt. In über 95 % der Fälle liegen ihr Mutationen im Tumorsuppressor-Gen NF1 zugrunde.
Cholangiocarcinoma (CCA) is an epithelial neoplasm that spreads in the bile ducts / bile duct mucosa. It can occur both inside and outside the liver. As a rare disease, it affects only around 3% of all cancers in the digestive tract worldwide, but it is the second most common tumor of the liver.
Das Cholangiokarzinom (CCA) ist eine epitheliale Neoplasie, die sich in den Gallengängen/der Gallenwegs-Schleimhaut ausbreitet. Es kann sowohl innerhalb, als auch außerhalb der Leber auftreten. Als seltene Erkrankung betrifft es weltweit nur ca. 3 % aller Krebserkrankungen im Verdauungstrakt, dennoch stellt es stellt den zweithäufigsten Tumor der Leber dar.
Das diffus großzellige B-Zell-Lymphom ist eine besonders aggressive und schnell voranschreitende Form der B-Zell-Lymphome, eine Gruppe bösartiger Erkrankungen des lymphatischen Systems. Schon in sehr frühem Krankheitsstadium kommt es zur Streuung der Lymphomzellen.
Permanent neonatal diabetes mellitus is a form of diabetes that manifests in the first 6 months of life.
Dermatofibrosarcoma protuberans is a soft tissue sarcoma that develops in the dermis. It is rarely malignant and metastases occur in only a few cases.
Cystinosis is a rare metabolic disease that causes deposits of cystine in various organs. These are caused by a defective transport of cystine.
Cockayne Syndrome is a progressive infantile dystrophy syndrome. The most important symptoms include dwarfism, neurological deficits and mental retardation.
Hemophilia A is a hereditary disease, in which the blood coagulation is disturbed due to a lack of coagulation factor VIII.
Oculodentodigital dysplasia is characterized by neurological and craniofacial symptoms, as well as malformed limbs and eyes.
Donnai-Barrow syndrome is a disease with multiple malformations, which is inherited as an autosomal recessive trait.
Acroosteolysis dominant type is a rare connective tissue disease and belongs to a group of several osteolytic diseases.
Bowen-Conradi syndrome is a fatal hereditary disorder of ribosome biogenesis.
Borjeson-Forssman-Lehman syndrome is an X-linked recessive disorder with characteristic symptoms such as mental retardation, torsal obesity, hypogonadism, and specific facial features.
Cutis marmorata teleangiectatica congenital is a vascular anomaly that leads to various dermatological symptoms.
The systemic capillary leak syndrome describes a rare systemic disease caused by increased capillary permeability.
CACH syndrome (childhood ataxia with central nervous system hypomyelination) is a leukoencephalopathy that manifests in childhood.