SE-ATLAS

Mapping of Health Care Providers
for People with Rare Diseases

Klinik und Poliklinik für Kinder- und Jugendmedizin am Universitätsklinikum Hamburg-Eppendorf

Description of facility

Director / Spokesperson
Prof. Dr. med. Ania C. Muntau
Information
Care facility for children
Description
Die Klinik für Kinder- und Jugendmedizin am Kinder-UKE des Universitätsklinikums Hamburg-Eppendorf widmet sich mit besonderem Schwerpunkt Kindern mit seltenen und komplexen Erkrankungen. Dem Leitgedanken einer universitären Medizin folgend sind Forschung, Diagnostik und Behandlung auf eine personalisierte Versorgung und die Entwicklung innovativer Therapiestrategien für die Patienten ausgerichtet. Dies wird durch eine enge Verbindung von experimenteller Grundlagenforschung, klinischer Forschung und Prüfung am Patienten mit Leitung und Durchführung internationaler Zulassungsstudien ermöglicht.

Care provisions

This facility offers the following
  • Clinical studies / research
  • Diagnostic
  • Therapy

Contact

Patientenservicecenter der Kinderklinik
040 741020400
040 741020404
kinderklinik@uke.de
Website https://www.uke.de/kliniken-institute/kliniken/kinder-und-jugendmedizin/index.html

Address

Martinistraße 52
20246 Hamburg
Gebäude O47

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Languages

Germany.png Deutsch
United_Kingdom.png Englisch

European Reference Network 1

Mentioned by the following facilities 3

Preview of the assigned diseases 14

CLN1 disease Thrombotic microangiopathy Kawasaki disease Pelizaeus-Merzbacher-like disease due to AIMP1 mutation Cree leukoencephalopathy Ovarioleukodystrophy Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome Infantile neuronal ceroid lipofuscinosis Pelizaeus-Merzbacher disease Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies Autoinflammatory syndrome of childhood Alagille syndrome due to a JAG1 point mutation OBSOLETE: CLN3 disease Cryoglobulinemic vasculitis Eosinophilic fasciitis Muckle-Wells syndrome PLCG2-associated antibody deficiency and immune dysregulation Unspecified juvenile idiopathic arthritis Oligoarticular juvenile idiopathic arthritis CLN2 disease Hereditary periodic fever syndrome CLN5 disease Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies CLN9 disease Nasu-Hakola disease Congenital or early infantile CACH syndrome CLN6 disease Congenital neuronal ceroid lipofuscinosis Neonatal adrenoleukodystrophy Mixed autoinflammatory and autoimmune syndrome Microscopic polyangiitis Relapsing polychondritis Hypomyelination with atrophy of basal ganglia and cerebellum Autosomal dominant polycystic kidney disease Autosomal recessive polycystic kidney disease Periodic fever syndrome of childhood Fabry disease Alagille syndrome Juvenile or adult CACH syndrome Metachromatic leukodystrophy, late infantile form Rare systemic or rheumatological disease of childhood Hypomyelination-congenital cataract syndrome Psoriasis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis Allan-Herndon-Dudley syndrome Metachromatic leukodystrophy, juvenile form Infantile onset panniculitis with uveitis and systemic granulomatosis 4H leukodystrophy Metachromatic leukodystrophy, adult form Familial Mediterranean fever Hyperimmunoglobulinemia D with periodic fever Idiopathic recurrent pericarditis Gorham-Stout disease Sterile multifocal osteomyelitis with periostitis and pustulosis Pelizaeus-Merzbacher disease, classic form Overlapping connective tissue disease Pelizaeus-Merzbacher disease in female carriers Krabbe disease Primary glomerular disease Unknown leukodystrophy Infantile Krabbe disease Pelizaeus-Merzbacher disease, transitional form Unexplained periodic fever syndrome of childhood Late-infantile/juvenile Krabbe disease Granulomatosis with polyangiitis Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Adult Krabbe disease Drug-induced vasculitis Infantile Refsum disease Null syndrome Zellweger syndrome Unclassified vasculitis Alexander disease type I Odontoleukodystrophy Metachromatic leukodystrophy Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Juvenile dermatomyositis Peroxisomal acyl-CoA oxidase deficiency JMP syndrome Pediatric Castleman disease Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Pediatric systemic lupus erythematosus CANDLE syndrome Secondary glomerular disease Pelizaeus-Merzbacher-like disease Mixed connective tissue disease Pelizaeus-Merzbacher-like disease due to GJC2 mutation Hypocomplementemic urticarial vasculitis Mild Canavan disease Spastic paraplegia type 2 CACH syndrome Pelizaeus-Merzbacher-like disease due to HSPD1 mutation Alagille syndrome due to 20p12 microdeletion Hajdu-Cheney syndrome Canavan disease Adrenomyeloneuropathy Juvenile polymyositis Adult-onset autosomal dominant leukodystrophy NLRP3-associated autoinflammatory disease Ravine syndrome CLN7 disease Leukoencephalopathy with mild cerebellar ataxia and white matter edema CADDS Late infantile CACH syndrome Reactive arthritis Severe Canavan disease Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies Sarcoidosis X-linked adrenoleukodystrophy Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies Postinfectious vasculitis Aicardi-Goutières syndrome Rare pediatric vasculitis Nakajo-Nishimura syndrome Alexander disease Leukodystrophy Granulomatous autoinflammatory syndrome of childhood Peroxisome biogenesis disorder Juvenile idiopathic arthritis Unclassified autoinflammatory syndrome of childhood Polyarticular juvenile idiopathic arthritis Leukoencephalopathy-dystonia-motor neuropathy syndrome Mixed cryoglobulinemia type III Mixed cryoglobulinemia type II Proteasome-associated autoinflammatory syndrome Behçet disease Wilson disease Cerebrotendinous xanthomatosis Cystic leukoencephalopathy without megalencephaly Hypomyelination with brain stem and spinal cord involvement and leg spasticity PFAPA syndrome Pelizaeus-Merzbacher disease, connatal form Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Juvenile neuronal ceroid lipofuscinosis Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Sweet syndrome Progressive cavitating leukoencephalopathy Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Eosinophilic granulomatosis with polyangiitis Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis Cogan syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Unexplained long-lasting fever/inflammatory syndrome Alexander disease type II Takayasu arteritis Blau syndrome CLN10 disease Alagille syndrome due to a NOTCH2 point mutation NLRP12-associated hereditary periodic fever syndrome STXBP1-related encephalopathy X-linked cerebral adrenoleukodystrophy CINCA syndrome Majeed syndrome Refsum disease Primary Sjögren syndrome Localized scleroderma Non-infectious anterior uveitis Early-onset sarcoidosis DITRA CLN8 disease PAPA syndrome Genetic glomerular disease Late infantile neuronal ceroid lipofuscinosis Rare pediatric systemic disease Alpha-1-antitrypsin deficiency Pyogenic autoinflammatory syndrome of childhood Vasculitis due to ADA2 deficiency Giant cell arteritis Megalencephalic leukoencephalopathy with subcortical cysts CREST syndrome Leukoencephalopathy with bilateral anterior temporal lobe cysts Familial cold urticaria Idiopathic juvenile osteoporosis Anti-neutrophil cytoplasmic antibody-associated vasculitis Immunoglobulin A vasculitis ATP13A2-related juvenile neuronal ceroid lipofuscinosis Progressive epilepsy-intellectual disability syndrome, Finnish type Adult neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis

Provided care options 7

# Contact person
1
Sprechstunde für Kinder- und Jugendrheumatologie
Dr. med. Fabian Speth, Dr. med. Anja Fröhlich

040 741020400
Email
Website
Sprechzeiten nach Vereinbarung. Telefonsiche Erreichbarkeit: Mo - Fr 8:00 - 16:00 Uhr.

2
Sprechstunde für pädiatrische Nephrologie
Prof. Dr. med. Jun Oh

040 741051200
Email
Website
Sprechzeiten: Mo 8:30 - 12:00 Uhr und 14:00 - 17:00 Uhr, Di, Do, Fr 8:30 - 12:00 Uhr sowie Mi 8:30 - 12:00 Uhr und 14:00 - 18:00 Uhr nach Vereinbarung.

3
Sprechstunde für Neuropädiatrie
PD Dr. med. Jonas Denecke

040 741020400
Email
Website
Sprechzeiten nach Vereinbarung.

4
Sprechstunde für pädiatrische Gastroenterologie und Hepatologie
Prof. Dr. med. Jun Oh

040 741020400
Email
Website
Sprechzeiten: Mo und Di 8:30 - 11:30 Uhr, Mi und Do 8:30 - 11:30 Uhr sowie 14:30 - 15:30 Uhr, Fr 9:00 - 11:30 Uhr nach Vereinbarung.

5
Sprechstunde für Leukodystrophien
Dr. med. Annette Bley

040 741056391
Email
Website
Sprechzeiten nach Vereinbarung.

6
Sprechstunde für Neuronale Ceroid-Lipofuszinosen (NCL-Krankheiten)
Dr. med. Angela Schulz

040 741020440
Email
Website
Sprechzeiten nach Vereinbarung. Telefonische Erreichbarkeit: Mo - Fr 8:00 - 16:00 Uhr.

7
Sprechstunde für Kinder und Erwachsene mit Morbus Fabry
PD Dr. med. Nicole Muschol

040 741053714
Email
Website
Sprechzeiten nach Vereinbarung.

9.97882014526112653.591869136290036Klinik und Poliklinik für Kinder- und Jugendmedizin am Universitätsklinikum Hamburg-Eppendorf
Last updated: 25.03.2025