Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn
Description
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. MeSH
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Subtype Terms (56)
Adrenal Hyperplasia, Congenital
23 drugs (14 approved, 9 experimental)
Alagille Syndrome
6 approved drugs
alpha 1-Antitrypsin Deficiency
29 drugs (14 approved, 15 experimental)
Anemia, Hemolytic, Congenital
3 approved drugs
Anemia, Hypoplastic, Congenital
1 experimental drug
Ataxia Telangiectasia
29 drugs (27 approved, 2 experimental)
Autoimmune Lymphoproliferative Syndrome
5 approved drugs
Blood Coagulation Disorders, Inherited
1 experimental drug
Brugada Syndrome
5 drugs (4 approved, 1 experimental)
CADASIL
9 drugs (6 approved, 3 experimental)
Cardiomyopathy, Hypertrophic, Familial
2 drugs (1 approved, 1 experimental)
Chromosome Disorders
5 drugs (4 approved, 1 experimental)
Cystic Fibrosis
309 drugs (156 approved, 153 experimental)
Dwarfism
5 drugs (4 approved, 1 experimental)
Eye Diseases, Hereditary
31 drugs (17 approved, 14 experimental)
GATA2 Deficiency
12 drugs (8 approved, 4 experimental)
Genetic Diseases, X-Linked
10 drugs (3 approved, 7 experimental)
Hemoglobinopathies
39 drugs (25 approved, 14 experimental)
Hereditary Autoinflammatory Diseases
4 drugs (3 approved, 1 experimental)
Heredodegenerative Disorders, Nervous System
3 drugs (2 approved, 1 experimental)
Hyper-IgM Immunodeficiency Syndrome
8 drugs (7 approved, 1 experimental)
Hyperthyroxinemia, Familial Dysalbuminemic
Kallmann Syndrome
11 drugs (7 approved, 4 experimental)
Lennox Gastaut Syndrome
13 drugs (7 approved, 6 experimental)
Marfan Syndrome
9 approved drugs
Metabolism, Inborn Errors
26 drugs (13 approved, 13 experimental)
Muscular Dystrophies
34 drugs (11 approved, 23 experimental)
Myasthenic Syndromes, Congenital
3 approved drugs
Neoplastic Syndromes, Hereditary
14 drugs (12 approved, 2 experimental)
Osteoarthropathy, Primary Hypertrophic
1 experimental drug
Osteochondrodysplasias
1 experimental drug
Osteogenesis Imperfecta
25 drugs (16 approved, 9 experimental)
Pain Insensitivity, Congenital
2 approved drugs
Primary Immunodeficiency Diseases
77 drugs (39 approved, 38 experimental)
Renal Tubular Transport, Inborn Errors
Skin Diseases, Genetic
8 drugs (5 approved, 3 experimental)
Werner Syndrome
2 drugs (1 approved, 1 experimental)
Phase 3 Indicated Drugs (19)
Phase 2 Indicated Drugs (45)
Phase 1 Indicated Drugs (8)
Other Experimental Indicated Drugs (9)
Organization Involved with Phase 4 Indications (2)
Organization Involved with Phase 3 Indications (12)
Organization Involved with Phase 2 Indications (29)
Organization Involved with Phase 1 Indications (3)
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UMLS Data
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