Rare Genetic Diseases

Rare Genetic Diseases
To many people, genetic diseases are a mystery that they would not want to confront at any stage in their lives. They bring about abnormalities that are very difficult to treat. They occur because of genetic material that is carried on from one generation to the other. The genetic code responsible for these diseases is a result of mutations.

Rare genetic diseases are more difficult to treat than those that occur often. This is because of the fact that rare diseases occur often making them low-priority diseases in terms of research since they do not affect many people. Researchers would rather dwell more on only those diseases that affect many member of population.

A genetic disease can be rare in one community but not in another. The community here refers to family lineage, ethnic group, a demographic unit or members of one race. For instance, Alzheimer's disease is not common among Caucasian people but is very common among ageing people of other racial backgrounds all over the world.

Alkaptonuria is a very rare genetic disease which is also commonly referred to as black urine disease. This disorder results from a tyrosine problem in the body's metabolism system. Out of between 250,000 and 1 million, one person has this disease. When it is exposed to air, the urine of such people instantly changes color into black. Patients are often urged to eat foods that are rich in vitamin C. One ought to avoid foods containing phenylalanine and tyrosine.

Hereditary Angioedema or HAE is one of the rare genetic diseases that few people know about. An abnormal functioning of C1 inhibitor causes the disease. C1 inhibitor is a protein that is formed from mutations that occur within the C1NH gene. The protein affects proper functioning of blood vessels. It occurs in one person out of every 150,000 people. The disease can effectively be treated through hormone treatment and use of painkillers. The most common symptoms include swelling of legs, eyes, arms and abdominal pain. Sometimes blockage of the airway can occur.

Kartagener's Syndrome is also a very rare genetic disease. This disease affects the lungs in a very chronic way. The syndrome occurs in one out of every 30,000 members of population. The disease occurs through ciliary defect. This defect results in a very abnormal ciliary motion. The defective genes in all Kartagener's Syndrome patients are DNA11 and DNAH5. Chest therapy and surgical intervention are the two main treatment options available to sufferers of Kartagener's Syndrome.

List Of Rare Diseases

List Of Rare Diseases
Rare diseases are diseases which do not attract lot of public attention, funding, or research, perhaps because they are extremely very rare and are poorly publicized. Some of the rare diseases include: -

Acrocephalosyndactylia

Acrodermatitis

Addison Disease

Adie Syndrome

Alagille Syndrome

Amylose

Amyotrophic Lateral Sclerosis

Angelman Syndrome

Angina Pectoris, Variant

Angiolymphoid Hyperplasia with Eosinophilia

Arnold-Chiari Malformation

Arthritis, Juvenile Rheumatoid

Asperger Syndrome

Bardet-Biedl Syndrome

Barrett Esophagus

Beckwith-Wiedemann Syndrome

Behcet Syndrome

Bloom Syndrome

Bowen's Disease

Brachial Plexus Neuropathies

Brown-Sequard Syndrome

Burkitt Lymphoma

Carcinoma 256, Walker

Caroli Disease

Chagas Disease

Charcot-Marie-Tooth Disease

Chediak-Higashi Syndrome

Chiari-Frommel Syndrome

Chondrodysplasia Punctata

Choreatic Disorders

Churg-Strauss Syndrome

Colonic Pseudo-Obstruction

Craniofacial Dysostosis

Creutzfeldt-Jakob Syndrome

Crohn Disease

Cushing Syndrome

De Lange Syndrome

Dementia, Vascular

Dermatitis Herpetiformis

Diffuse Cerebral Sclerosis of Schilder

Duane Retraction Syndrome

Dupuytren's Contracture

Dysautonomia, Familial

Ebstein's Anomaly

Ehlers-Danlos Syndrome

Eisenmenger Complex

Ellis-Van Creveld Syndrome

Encephalitis

Enchondromatosis

Epidermal Necrolysis, Toxic

Facial Hemiatrophy

Factor XII Deficiency

Fanconi Anemia

Felty's Syndrome

Fibrous Dysplasia, Polyostotic

Fox-Fordyce Disease

Friedreich Ataxia

Fusobacterium

Gardner Syndrome

Gaucher Disease

Gerstmann Syndrome

Giant Lymph Node Hyperplasia

Goldenhar Syndrome

Guillain-Barre Syndrome

Hallermann's Syndrome

Hallervorden-Spatz Syndrome

Hamartoma Syndrome, Multiple

Hartnup Disease

Hepatic Vein Thrombosis

Hepatolenticular Degeneration

Hereditary Motor and Sensory Neuropathies

Hippel-Lindau Disease

Hirschsprung Disease

Histiocytic Necrotizing Lymphadenitis

Histiocytosis, Langerhans-Cell

Histiocytosis, Sinus

Hodgkin Disease

Horner Syndrome

Huntington Disease

Hyperaldosteronism

Hyperostosis, Diffuse Idiopathic Skeletal

Hypopituitarism

Inappropriate ADH Syndrome

Intestinal Polyps

Isaacs Syndrome

Kartagener Syndrome

Kearns-Sayer Syndrome

Keratosis Follicularis

Klippel-Feil Syndrome

Klippel-Trenaunay-Weber Syndrome

Kluver-Bucy Syndrome

Korsakoff Syndrome

Lafora Disease

Lambert-Eaton Myasthenic Syndrome

Landau-Kleffner Syndrome

Langer-Giedion Syndrome

Leigh Disease

Lesch-Nyhan Syndrome

Leukodystrophy, Globoid Cell

Li-Fraumeni Syndrome

Long QT Syndrome

Lymphoma, Mantle-Cell

Machado-Joseph Disease

Mallory-Weiss Syndrome

Marek Disease

Marfan Syndrome

Meckel Diverticulum

Meige Syndrome

Melkersson-Rosenthal Syndrome

Meniere's Disease

Mikulicz' Disease

Miller Fisher Syndrome

Mobius Syndrome

Moyamoya Disease

Mucocutaneous Lymph Node Syndrome

Mullerian Ducts

Multiple Endocrine Neoplasia Type 1

Munchausen Syndrome by Proxy

Muscular Atrophy, Spinal

Neuroaxonal Dystrophies

Neuromyelitis Optica

Neuronal Ceroid-Lipofuscinoses

Niemann-Pick Diseases

Noonan Syndrome

Optic Atrophies, Hereditary

Osteitis Deformans

Osteochondritis

Osteochondrodysplasias

Paget's Disease, Mammary

Papillon-Lefevre Disease

Pelizaeus-Merzbacher Disease

Pemphigus, Benign Familial

Penile Induration

Pericarditis, Constrictive

Peroxisomal Disorders

Peutz-Jeghers Syndrome

Pick Disease of the Brain

Pierre Robin Syndrome

Pityriasis Lichenoides

Polycystic Ovary Syndrome

Polyendocrinopathies, Autoimmune

Prader-Willi Syndrome

Pulmonary Fibrosis

Pupil Disorders

Raynaud Disease

Reiter Syndrome

Rett Syndrome

Reye Syndrome

Rubinstein-Taybi Syndrome

Sandhoff Disease

Sarcoma, Ewing's

Shwartzman Phenomenon

Shy-Drager Syndrome

Sjogren's Syndrome

Sjogren-Larsson Syndrome

Smith-Lemli-Opitz Syndrome

Spinal Muscular Atrophies of Childhood

Sturge-Weber Syndrome

Sweating, Gustatory

Sweet's Syndrome

Takayasu's Arteritis

Tangier Disease

Tay-Sachs Disease

Thromboangiitis Obliterans

Tietze's Syndrome

Togaviridae Infections

Tolosa-Hunt Syndrome

Tourette Syndrome

Uveomeningoencephalitic Syndrome

Waardenburg's Syndrome

Waldenstrom Macroglobulinemia

Wegener Granulomatosis

Weil Disease

Werner Syndrome

Williams Syndrome

Wilms Tumor

Wiskott-Aldrich Syndrome

Wolff-Parkinson-White Syndrome

Wolfram Syndrome

Wolman Disease

Zellweger Syndrome

Zollinger-Ellison Syndrome