Centers of expertise for rare diseases in Bulgaria

Head of the expert center:  Assoc. Prof Valeria Kaleva, MD

Telephone: 052 978 321

– IRF9 deficiency , Orpha 98879;

– Von Willebrand disease, Orpha 903; 166078

– B- Talasemia major, Orpha 231214

– Talasemia intermedia, Orpha 231222

– Leber congenital amaurosis, Orpha 65; 98869 (type 1), 98873 (type 2), 98870 (type 3)

– Blackfan-Diamond anemia, Orpha 124

– Fanconi anemia, Orpha 84

– G6PD deficiency , Orpha 362

– Hereditary spherocytosis, Orpha 822

– Paroxysmal nocturnal hemoglobinuria, Orpha 447

Aleksandrovska University Hospital, Neurologic Clinic, Sofia

Head of the expert center:  Prof. Ivaylo Tarvev, MD

Telephone: 02 9230 670

– Limb-girdle muscular dystrophy, Orpha 263

– Niemann-Pick disease, Orpha 646

– Gaucher disease, Orpha 77259; 77260; 77261

– Wilson disease, Orpha 905

– Facioscapulohumeral muscular dystrophy, Orpha 269

– Nonaka distal myopathy, Orpha 602

– Glycogen storage disease due to acid maltase deficiency, Orpha 365

– Duchenne muscular dystrophy, Orpha 98896

– Becker muscular dystrophy, Orpha 98895

– Familial amyloid polyneuropathy, Orpha 85447

– Proximal spinal muscular atrophy type 1, Orpha 83330

– Proximal spinal muscular atrophy type 2, Orpha 83418, 83419

Head of the expert center:  Prof. Mario Stankev, MD

Telephone: 02 9211 211

– Aortic coarctation, ICD 10  Q20.1

–  Opening in ductus Botali , ICD 10  Q20.3

– Tetralogy of Fallot , ICD 10  Q20.4

Head of the expert center: Prof. Mario Stankev, MD

Telephone: 02 9211 211

Head of the expert center:  Acad. Ivan Milanov, MD

Telephone: 02 9702 300 

– Segment dystonia, Orpha 1866

– Multifocal dystonia, Orpha 1866

Head of the expert center:  Prof. Elisaveta Naumova, MD

Telephone: 02 9230 690

E-mail: umbal.alexsandrovska@gmail.com

immunology@abv.bg

Head of the expert center:  Prof. Emil Paskalev, MD

Телефон: 02 9230 539

E-mail: emilpaskalev@abv.bg

Head of the expert center:  Assoc Prof. Aneta Ivanova, MD

Telephone: 02 8510 814, 02 9522 018

E-mail: anetaivanova99@abv.bg

–  Congenital erythropoietic porphyria, Orpha 79277

– Erythropoetic protoporphyria, Orpha 79473

– Hereditary coproporphyria, Orpha 79273

–   Porphyria cutanea tarda, Orpha 443062

–   Acute intermittent porphyria , Orpha 79276

Head of the expert center:  Prof. Toshko Lisichkov, MD

Telephone: 02 9701 235

E-mail: t.lissitchkov@abv.bg

– Hemophilia B

– Von Willebrand disease

– Sideroblastic anemia

– Hemoglobin diseases

– Hemochromatosis

– Talasemia

Head of the expert center:  Prof. Radka Tincheva

Телефон: 02 8154 240

Ръководители:  Acad. Ivan Milanov,  Prof. Veneta Bozhinova

Telephone: 02 9702 300 (222)

E-mail: ubalnp@yahoo.com

Head of the expert center:  Prof. Violeta Yotova, MD

Telephone: 052 3028 51, 052 302 889

E-mail: iotova_v@abv.bg

– Sipple syndrome

– Multiple endocrine neoplasma

Head of the expert center: Prof. Sabina Zaharieva, MD

Telephone: 02 895604

E-mail: zacharieva67@gmail.com

– Cushing Syndrome, Orpha   553

– Acromegalia and Hypophyseal gigantism, Orpha   963