MITF-related melanoma and renal cell carcinoma predisposition syndrome
Institutions de rang supérieur 0
Conseil génétique 2
Humangenetisches Institut am Universitätsklinikum Erlangen
Universitätsklinikum Erlangen
Schwabachanlage 10
91054 Erlangen
09131 8522318
09131 8523232
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- Full NF2-related schwannomatosis
- Hereditary retinoblastoma
- Beckwith-Wiedemann syndrome
- Hereditary nonpolyposis colon cancer
- Xeroderma pigmentosum
- Silver-Russell syndrome
- Ataxia-telangiectasia
- Common variable immunodeficiency
- Noonan syndrome
- Diamond-Blackfan anemia
- Li-Fraumeni syndrome
- Constitutional mismatch repair deficiency syndrome
- Familial ovarian cancer
- Von Hippel-Lindau disease
- Inherited cancer-predisposing syndrome
Institut für Humangenetik am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741053125
040 741055138
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- Syndrome de Silver-Russell
- Syndrome héréditaire de prédisposition aux cancers rénaux
- Maladie de von Hippel-Lindau
- Xeroderma pigmentosum
- Anémie de Blackfan-Diamond
- Syndrome de Noonan
- Syndrome de Li-Fraumeni
- Syndrome de Cockayne
- Ataxie-télangiectasie
- Syndrome de Costello
- Schwannomatose liée à NF2 germinale
- Polypose adénomateuse familiale atténuée liée à APC
- Cancer de l'ovaire, forme familiale
- Syndrome de Beckwith-Wiedemann
- Syndrome de Maffucci
Institutions de prise en charge 1
Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie am Universitätsklinikum Hamburg-Eppendorf
Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE) Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741054270
040 741054601
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- Alveolar soft tissue sarcoma
- Retinoblastoma
- Combined T and B cell immunodeficiency
- Medulloblastoma
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Hemophilia
- Alpha-thalassemia
- Congenital factor V deficiency
- Sickle cell anemia
- Beta-thalassemia
- Rhabdomyosarcoma
- Von Willebrand disease
- Fanconi anemia