Conceitos

Directorios

http://www.hon.ch/HONselect/RareDiseases/index_pt.html

http://www.nlm.nih.gov/medlineplus/rarediseases.html

http://www.kumc.edu/gec/support/metaboli.html

Doenças raras 
A maior parte deve-se a alteraçao do codigo genetico- doenças geneticas
Na Europa denominamsedoenças raras a doenças que surgem em menos que 1/2000 da populaçao. Nos Estados Unidos estabeleceu- se  1/7000
Esta situaçao leva a um numero reduzido de informaçao cientifica a de meios terapeuticos
 http://www.doctissimo.fr/html/sante/mag_2001/mag0126/dossier/sa_4000_maladies_orphelines_niv2.htm

http://en.wikipedia.org/wiki/Rare_disease

http://www.orpha.net/consor/cgi-bin/index.php

http://www.rarediseaseday.org/article/what-is-a-rare-disease

http://www.ncbi.nlm.nih.gov/books/NBK56184/

Lista de doenças raras

https://www.hon.ch/HONselect/RareDiseases/

Acrocephalosyndactylia   Acrodermatitis   Addison Disease   Adie Syndrome   Alagille Syndrome   Amylose   Amyotrophic Lateral Sclerosis   Angelman Syndrome   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   Budd-Chiari Syndrome   Burkitt Lymphoma   Carcinoma 256, Walker   Caroli Disease   Charcot-Marie-Tooth Disease   Chediak-Higashi Syndrome   Chiari-Frommel Syndrome   Chondrodysplasia Punctata   Colonic Pseudo-Obstruction   Colorectal Neoplasms, Hereditary Nonpolyposis   Craniofacial Dysostosis   Creutzfeldt-Jakob Syndrome   Crohn Disease   Cushing Syndrome   Cystic Fibrosis   Dandy-Walker Syndrome   De Lange Syndrome   Dementia, Vascular   Dermatitis Herpetiformis   DiGeorge Syndrome   Diffuse Cerebral Sclerosis of Schilder   Duane Retraction Syndrome   Dupuytren Contracture   Ebstein Anomaly   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   Glycogen Storage Disease Type I   Glycogen Storage Disease Type II   Glycogen Storage Disease Type IV   Glycogen Storage Disease Type V   Glycogen Storage Disease Type VII   Goldenhar Syndrome   Guillain-Barre Syndrome   Hallermann's Syndrome   Hamartoma Syndrome, Multiple   Hartnup Disease   Hepatolenticular Degeneration   Hepatolenticular Degeneration   Hereditary Sensory and Motor Neuropathy   Hirschsprung Disease   Histiocytic Necrotizing Lymphadenitis   Histiocytosis, Langerhans-Cell   Hodgkin Disease   Horner Syndrome   Huntington Disease   Hyperaldosteronism   Hyperhidrosis   Hyperostosis, Diffuse Idiopathic Skeletal   Hypopituitarism   Inappropriate ADH Syndrome   Intestinal Polyps   Isaacs Syndrome   Kartagener Syndrome   Kearns-Sayre Syndrome   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   Machado-Joseph Disease   Mallory-Weiss Syndrome   Marek Disease   Marfan Syndrome   Meckel Diverticulum   Meige Syndrome   Melkersson-Rosenthal Syndrome   Meniere Disease   Mikulicz' Disease   Miller Fisher Syndrome   Mobius Syndrome   Moyamoya Disease   Mucocutaneous Lymph Node Syndrome   Mucopolysaccharidosis I   Mucopolysaccharidosis II   Mucopolysaccharidosis III   Mucopolysaccharidosis IV   Mucopolysaccharidosis VI   Multiple Endocrine Neoplasia Type 1   Munchausen Syndrome by Proxy   Muscular Atrophy, Spinal   Narcolepsy   Neuroaxonal Dystrophies   Neuromyelitis Optica   Neuronal Ceroid-Lipofuscinoses   Niemann-Pick Diseases   Noonan Syndrome   Optic Atrophies, Hereditary   Osteitis Deformans   Osteochondritis   Osteochondrodysplasias   Osteolysis, Essential   Paget Disease Extramammary   Paget's Disease, Mammary   Panniculitis, Nodular Nonsuppurative   Papillon-Lefevre Disease   Paralysis   Pelizaeus-Merzbacher Disease   Pemphigus, Benign Familial   Penile Induration   Pericarditis, Constrictive   Peroxisomal Disorders   Peutz-Jeghers Syndrome   Pick Disease of the Brain   Pierre Robin Syndrome   Pigmentation Disorders   Pityriasis Lichenoides   Polycystic Ovary Syndrome   Polyendocrinopathies, Autoimmune   Prader-Willi Syndrome   Pupil Disorders   Rett Syndrome   Reye Syndrome   Rubinstein-Taybi Syndrome   Sandhoff Disease   Sarcoma, Ewing's   Schnitzler Syndrome   Sjogren's Syndrome   Sjogren-Larsson Syndrome   Smith-Lemli-Opitz Syndrome   Spinal Muscular Atrophies of Childhood   Sturge-Weber Syndrome   Sweating, Gustatory   Takayasu Arteritis   Tangier Disease   Tay-Sachs Disease   Thromboangiitis Obliterans   Thyroiditis, Autoimmune   Tietze's Syndrome   Togaviridae Infections   Tolosa-Hunt Syndrome   Tourette Syndrome   Uveomeningoencephalitic Syndrome   Waardenburg's Syndrome   Wegener Granulomatosis   Weil Disease   Werner Syndrome   Williams Syndrome   Wilms Tumor   Wolff-Parkinson-White Syndrome   Wolfram Syndrome   Wolman Disease   Zellweger Syndrome   Zollinger-Ellison Syndrome   von Willebrand Diseases

© copyright HON 2017

Prevalencia das doenças raras

http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_decreasing_prevalence_or_cases.pdfhttp://ec.europa.eu/health/rare_diseases/orphanet/report/index_en.htm

http://ec.europa.eu/health/ph_threats/non_com/docs/rdnumbers.pdf

Medicamentos orfaos
São medicamentos especificos para uma determinada doença rara

http://en.wikipedia.org/wiki/Orphan_drug

http://www.orpha.net/orphacom/cahiers/docs/GB/list_of_orphan_drugs_in_europe.pdf

http://www.orpha.net/consor/cgi-bin/Education_AboutOrphanDrugs.php?lng=EN

http://www.ema.europa.eu/ema/index.jsp?curl=pages/regulation/general/general_content_000029.jsp

http://www.eurordis.org/about-orphan-drugs

Urgencias nas doenças raras

http://www.orpha.net/consor/cgi-bin/Disease_Emergency.php?lng=EN

A

• Alpha-1 antitrypsin deficiency
• Non histamine-induced angioedema
• APECED

C

• Carnitine transporter deficiency (BIMDG guidelines)
• CPS (carbamoylphosphatase synthetase) deficiency (BIMDG guidelines)

D

• Central diabetes insipidus
• Dravet syndrome
• Duchenne muscular dystrophy

E

• Ehlers-Danlos syndrome, vascular type

F

• Fructose 1,6 biphosphatase deficiency (BIMDG guidelines)
• Familial mediterranean fever

G

• GLUT1 deficiency syndrome (BIMDG guidelines)
• Glutaric aciduria type 1 (BIMDG guidelines)
• Glycogen debranching enzyme deficiency (BIMDG guidelines)
• Glycogenosis due to glucose 6 phosphatase deficiency (BIMDG guidelines)
• Glycogenosis due to glucose 6 phosphatase deficiency type 1b (BIMDG guidelines)

H

• Paroxysmal Nocturnal Haemoglobinuria
• Hemiplegic Migraine (HM)
• HMG CoA lyase deficiency (BIMDG guidelines)
• Homocystinuria, classic
• Hyperammonaemia due to transport defects (BIMDG guidelines)
• Hyperammonemia due to citrullinemia or argininosuccinic aciduria (BIMDG guidelines)

I

• Isovaleric acidemia (BIMDG guidelines)

K

• Ketone metabolism, defects of (BIMDG guidelines)
• Ketotic hypoglycemia (BIMDG guidelines)

L

• Long chain fat oxidation disorders (BIMDG guidelines)

M

• Malignant hyperthermia
• Maple syrup urine disease (BIMDG guidelines)
• Marfan Syndrome
• Medium chain fat oxidation disorders (BIMDG guidelines)
• Methyl malonic acidemia (BIMDG guidelines)
• Autoimmune myasthenia

N

• NAGS deficiency (BIMDG guidelines)

O

• Osteogenesis imperfecta (OI)
• OTC (ornithine transcarbamylase) deficiency (BIMDG guidelines)

P

• Type 1 autoimmune polyendocrinopathy
• Acute hepatic porphyria neuro-visceral crisis
• Cutaneous porphyrias
• Propionic acidemia (BIMDG guidelines)

S

• Amyotrophic lateral sclerosis
• Tuberous sclerosis
• Steinert myotonic dystro

Jornais electrónicos – doenças raras

http://www.ojrd.com/

http://www.tandfonline.com/loi/krad20#.VS1LKmA3PIU

http://rarejournal.org/rarejournal

http://www.journalofraredisorders.com/

Doenças genéticas - textos

http://textos-fisiopatologia.blogspot.pt/2013/04/patologia-celular.html

http://en.wikipedia.org/wiki/Genetic_disorder

http://www.nlm.nih.gov/medlineplus/geneticdisorders.html

http://www.medicinenet.com/genetic_disease/article.htm

http://learn.genetics.utah.edu/content/disorders/

Lista de doenças genéticas

http://en.wikipedia.org/wiki/List_of_genetic_disorders

http://www.genome.gov/10001204