Genetic Diseases, Inborn D030342

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
20 drugs (14 approved, 6 experimental)

Alagille Syndrome
6 drugs (5 approved, 1 experimental)

alpha 1-Antitrypsin Deficiency
24 drugs (13 approved, 11 experimental)

Anemia, Hemolytic, Congenital
3 approved drugs

Anemia, Hypoplastic, Congenital
1 experimental drug

Ataxia Telangiectasia
28 drugs (25 approved, 3 experimental)

Autoimmune Lymphoproliferative Syndrome
5 approved drugs

Blood Coagulation Disorders, Inherited
1 experimental drug

Brugada Syndrome
5 drugs (3 approved, 2 experimental)

CADASIL
6 drugs (4 approved, 2 experimental)

Camurati-Engelmann Syndrome
 

Cardiomyopathy, Hypertrophic, Familial
2 drugs (1 approved, 1 experimental)

CHARGE Syndrome
 

Cherubism
 

Chromosome Disorders
3 approved drugs

Ciliopathies
 

Costello Syndrome
 

Cystic Fibrosis
293 drugs (140 approved, 153 experimental)

Donohue Syndrome
 

Dwarfism
3 drugs (2 approved, 1 experimental)

Eye Diseases, Hereditary
30 drugs (16 approved, 14 experimental)

Familial Multiple Lipomatosis
 

Frasier Syndrome
 

GATA2 Deficiency
10 drugs (8 approved, 2 experimental)

Genetic Diseases, X-Linked
10 drugs (2 approved, 8 experimental)

Genetic Diseases, Y-Linked
 

Hajdu-Cheney Syndrome
 

Hemoglobinopathies
39 drugs (24 approved, 15 experimental)

Hereditary Autoinflammatory Diseases
4 drugs (3 approved, 1 experimental)

Heredodegenerative Disorders, Nervous System
1 approved drug

Hyper-IgM Immunodeficiency Syndrome
8 drugs (7 approved, 1 experimental)

Hyperthyroxinemia, Familial Dysalbuminemic
 

Kallmann Syndrome
9 drugs (6 approved, 3 experimental)

Kartagener Syndrome
 

Laminopathies
 

Lennox Gastaut Syndrome
12 drugs (7 approved, 5 experimental)

Loeys-Dietz Syndrome
 

Marfan Syndrome
9 approved drugs

Metabolism, Inborn Errors
25 drugs (12 approved, 13 experimental)

Muscular Dystrophies
27 drugs (10 approved, 17 experimental)

Myasthenic Syndromes, Congenital
3 approved drugs

Nail-Patella Syndrome
 

Neoplastic Syndromes, Hereditary
14 drugs (12 approved, 2 experimental)

Oculocerebrorenal Syndrome
 

Orofaciodigital Syndromes
 

Osteoarthropathy, Primary Hypertrophic
1 experimental drug

Osteochondrodysplasias
 

Osteogenesis Imperfecta
22 drugs (15 approved, 7 experimental)

Pain Insensitivity, Congenital
2 approved drugs

Pelger-Huet Anomaly
 

Primary Immunodeficiency Diseases
68 drugs (30 approved, 38 experimental)

Pycnodysostosis
 

Renal Tubular Transport, Inborn Errors
 

Skin Diseases, Genetic
8 drugs (4 approved, 4 experimental)

Werner Syndrome
2 drugs (1 approved, 1 experimental)

Yellow Nail Syndrome
 



Organization Involved with Phase 4 Indications (2)

Organization Involved with Phase 1 Indications (3)

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UMLS Data


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