DDX41-related hematologic malignancy 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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- Beckwith-Wiedemann syndrome
- Xeroderma pigmentosum
- Li-Fraumeni syndrome
- Constitutional mismatch repair deficiency syndrome
- Noonan syndrome
- Diamond-Blackfan anemia
- Von Hippel-Lindau disease
- Inherited cancer-predisposing syndrome
- Full NF2-related schwannomatosis
- Familial ovarian cancer
- Hereditary nonpolyposis colon cancer
- Silver-Russell syndrome
- Common variable immunodeficiency
- Ataxia-telangiectasia
- Hereditary retinoblastoma
Institut für Humangenetik am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE)
Martinistraße 52
20251 Hamburg
040 741053125
040 741055138
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- Cockayne syndrome
- Familial ovarian cancer
- Beckwith-Wiedemann syndrome
- Maffucci syndrome
- Li-Fraumeni syndrome
- Costello syndrome
- Inherited renal cancer-predisposing syndrome
- Ataxia-telangiectasia
- Xeroderma pigmentosum
- Silver-Russell syndrome
- Diamond-Blackfan anemia
- Full NF2-related schwannomatosis
- APC-related attenuated familial adenomatous polyposis
- Noonan syndrome
- Von Hippel-Lindau disease
Institutions de prise en charge 1
Klinik und Poliklinik für Pädiatrische Hämatologie und Onkologie am Universitätsklinikum Hamburg-Eppendorf
Universitätsklinikum Hamburg-Eppendorf (UKE) Martin Zeitz Centrum für Seltene Erkrankungen (MZCSE)
Martinistraße 52
20251 Hamburg
040 741054270
040 741054601
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- Rhabdomyosarcoma
- Retinoblastoma
- Medulloblastoma
- Alveolar soft tissue sarcoma
- Congenital factor V deficiency
- Sickle cell anemia
- Von Willebrand disease
- Fanconi anemia
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Beta-thalassemia
- Alpha-thalassemia
- Hemophilia
- Combined T and B cell immunodeficiency