Rare genetic diseases - part two

SECOND PART
28. Neuro-degenerative genetic diseases. Traikov L., Sh. Mahrebian

28.1. Alzheimer's disease
28.2. Frontotemporal lobar degeneration
28.3. Genetic studies in Parkinson's disease
28.4. Prion diseases
28.5. Neuroacanthocytosis

29. Rare genetic syndromes in gastroenterology. V. Gerova, S. Stoynev, A. Savov, T. Ivanov, D. Toncheva

29.1. Wilson's disease
29.2. Progressive familial intrahepatic cholestasis
29.3. Hereditary hemochromatosis
29.4. Polycystic liver
29.5. BUDD-CHIARI syndrome
29.6. Alpha-1-antitrypsin deficiency
29.7. RET-linked Hirschsprung disease (HSCR)
29.8. Shwachman-Diamond syndrome (SDS)
29.9. Crohn's disease and chronic ulcerative colitis (UC)

30. Genetic basis of cardiovascular diseases. V. Ganev, I. Dimova, V. Stoyanova, T. Balabanski
30.1. Non-syndromic congenital heart defects
30.2. Syndromic congenital heart defects
30.3. Congenital cardiomyopathies
30.4. Hereditary pulmonary arterial hypertension
30.5. Rare genetic forms of arterial hypertension
30.6. Hereditary disorders of the lymphatic and venous system
30.7. Hereditary disorders of coagulation and fibrinolysis
30.8. Heredity and atherosclerotic disease
30.9. Familial cardiac arrhythmias.
30.10. Genomic diagnosis of cardiomyopathies and arrhythmias. D. Toncheva, R. Vazharova

31. Genetic predisposition to lung diseases. D. Petrova, V.
Pencheva, O. Georgiev, A. Savov, I. Dimova, D. Toncheva
31.1. Genetic defects in cystic fibrosis patients in Bulgaria.
31.2. Alpha-1 antitrypsin deficiency
31.3. Central alveolar hypoventilation
31.4.Goodpasture syndrome
31.5. Narcolepsy
31.6. Ciliary diseases
31.7. Kartagener's syndrome
31.8. Polyarteritis nodosa with pulmonary involvement
31.9. Churg-Strauss syndrome
31.10. Microscopic polyangiitis with pulmonary involvement
31.11. Wegener's granulomatosis

32. Rare diseases in ophthalmology.. A. Popova, Iva Petkova, S. Cherninkova, D.
Toncheva, P. Vasileva
32.1. Achromatopsia
32.2. Leber's amaurosis
32.3. Aniridia
32.4. Anophthalmia(s)
32.5. Congenital/childhood cataracts
32.6 Cataract/microcornea syndrome
32.7. Coloboma (eye coloboma)
32.8. Displacement (luxation) of the lens
32.9. Megalocornea
32.10. Microcoria
32.11. Microcornea
32.12. Microphthalmia
32.13. Ocular albinism
32.14. Primary congenital glaucoma
32.15. Pigmentary degenerations of the retina
32.16. Retinoschisis
32.17. Stargardt's disease

32.18. Vitelliform macular degeneration
32.19. Genomic studies in rare diseases in ophthalmology. R. Vazharova,
S. Ivanov, L. Balabanski, D. Toncheva
33. Hereditary deafness. Varban Ganev, Ivanka Dimova
33.1. Acquired hearing loss
33.2. Teratogenic hearing loss
33.3. Non-syndromic hereditary deafness
33.4. Branchio-orenal syndrome (BOR).
33.5. Stickler syndrome
33.6. Treacher-Sollins syndrome
33.7. Waardenburg syndrome
33.8. Jervell and Lange-Nielsen syndrome (JLNS).
33.9. Pendred syndrome
33.10. Usher syndrome
33.11. Norrie syndrome
33.12. Alport syndrome
33.13. Diagnosis and differential diagnosis
33.14. Genomic diagnosis of hereditary deafness
33.15. Medical-genetic consultation

34. Hereditary kidney diseases. R. Staneva, M. Mihailova-Hristova, D.
Mladenov, D. Toncheva
34.1. Autosomal dominant polycystic kidney disease (ADPCDD)
In patients with ADPKD, the following should be avoided:
34.2 Autosomal recessive polycystic kidney disease (APCKD)
34.3 Nephronophthisis (NF)
34.4. Medullary cystic kidney disease MCBB
34.5. Bartter syndrome
34.6. Gitelman syndrome
34.7. Pseudohypoaldosteronism type I (PAH type I)
34.8. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
34.9. Hypomagnesemia with secondary hypocalcemia
34.10. Other diseases leading to hypomagnesemia
34.11. Liddle syndrome
34.12. Pseudohypoaldosteronism type II (Familial hyperkalemic hypertension, Gordon syndrome)
34.13. Genetic forms of nephrogenic diabetes insipidus
34.14. Renal tubular acidosis
34.15. Cystinuria
34.16. Hartnup's disease
34.17. Dent's disease
34.18. Cystinosis
34.19. Renal glycosuria
34.20. Hypophosphatemic rickets with hypercalciuria
34.21. Vitamin D-dependent rickets
34.22. Balkan endemic nephropathy (BEN)

35. Mitochondrial diseases. I. Dimova, R. Tincheva
35.1. MELAS
35.2. Kearns-Sayre syndrome
35.3. MERRF syndrome
35.4. Leigh syndrome

36. Congenital immunodeficiency diseases. S. Lalchev
36.1. Combined immunodeficiencies (CIDs)
36.2. Bruton's agammaglobulinemia
36.3. Chronic granulomatous disease (CHD)
36.4. Leukocyte Adhesion Defects (LAD)
36.5. Defects in the complement system

37. Reproductive medicine - genomic approaches for diagnosis of reproductive disorders. S. Hadzydekova, D. Toncheva
37.1 Male infertility
37.2. Female infertility
37.3. Genetic tests for infertility

38. Congenital hematological diseases. V. Kaleva
38.1. Beta-thalassemia

39. Modern classification and gene diagnostics of oncohematological
diseases in adults. G. Balatsenko, G. Mihailov, St. Toshkov
39.1. Methods for diagnosis of genetic disorders in malignant
blood diseases
39.2. Clinical application of cytogenetic and molecular studies
39.3. Prognostic significance of genetic disorders
39.4. Genetic disorders, which are a mandatory prerequisite for the application of
targeted treatment
39.5. Minimal residual disease study

40. Genetic aspects in malignant blood diseases in childhood. Nadezhda Yurukova, Dobrin Konstantinov
Conditions due to defective DNA repair.
40.1. Fanconi Anemia (FA)
40.2. Ataxia-telangiectasia (А-Т) (Louis-Bar syndrome)
40.3. Nijmegen breakage syndrome (NBS).
40.4. Bloom syndrome

41. Genetic aspects in hereditary solid tumors in childhood. Ivan Boronsuzov, Dobrin Konstantinov
41.1. Neurofibromatosis type 1
41.2. Neurofibromatosis type 2
41.3. Li Fraumeni syndrome
41.4. Gorlin syndrome
41.5. Von Hippel-Lindau syndrome
41.6. Beckwith-Wiedemann syndrome
41.7. DICER syndrome.
41.8. Hereditary neuroblastoma
41.9. Hereditary retinoblastoma
41.10. Sporadic tumors

42. Hereditary cancer syndromes in adults. D. Toncheva, V. Gerova, D. Kalev, D. Damyanov, C. Slavov, S. Stoynev
42.1. Familial adenomatous polyposis
42.2. Juvenile polyposis syndrome
42.3. Peutz-Jeghers syndrome
42.4. Cowden syndrome.
42.5. Bannayan-Riley-Rivalcaba (BRRS)
42.6. Hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
42.7. Hereditary carcinoma of the breast and ovary
42.8. Prostate carcinoma
42.9. Familial non-small cell lung carcinoma (NSCLC)
42.10. Familial renal carcinoma
42.11. Familial melanoma
42.11. Familial pancreatic cancer
42.12. Hereditary thyroid carcinoma
42.13. Multigene diagnostics for genetic predisposition to carcinomas.

Rare genetic diseases - part two