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Lista De Doenças Raras E Sinónimos: Listadas Por Ordem Alfabética

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Lista De Doenças Raras E Sinónimos: Listadas Por Ordem Alfabética Março 2016 Lista de doenças raras e sinónimos: Listadas por ordem alfabética www.orpha.net www.orphadata.org METODOLOGIA Recolha de dados A Orphanet fornece uma compressiva enciclopédia de Com o aparecimento de novos conhecimentos doenças raras na Europa, publicada bianualmente em científicos, a enciclopédia de doenças raras da Orphanet formato de lista. é actualizada por adição/actualização regular de novas As doenças raras registadas na Orphanet são definidas doenças através de duas fontes não exclusivas: fontes em dois âmbitos: documentais e/ou aconselhamento especializado. O conhecimento científico é monitorizado através: Qualquer entidade é definida pela sua homogeneidade clinica, independentemente da Uma análise, duas vezes por mês, de um sua etiologia ou do número de genes causadores conjunto definido de revistas científicas identificados; internacionais revistas por pares, que abrangem a diversidade das especialidades médicas A raridade é definida de acordo com a representadas na Orphanet; legislação europeia definindo um limite de prevalência não superior a 5 pessoas afectadas Um algoritmo de pesquisa mensal na Medline: por cada 10.000 (Regulação (EC) Nº141/200 do (nosologia[Titulo] OU classificação[Titulo] OU Parlamento Europeu e do conselho de 16 de nomenclatura[Titulo] ou terminologia[Titulo]) dezembro de 1999 em medicamentos órfãos, E (doença rara* OU Síndrome* OU http://ec.europa.eu/health/files/eudralex/vol- desordem*); 1/reg_2000_141/reg_2000_141_en.pdf). As doenças raras registadas foram descritas na literatura Pesquisas específicas na Medline de acordo científica internacional (artigos revistos por pares) com com as solicitações dos especialistas, dos pelo menos dois casos que confirmam que os sinais utilizadores da base de dados ou das clínicos não são associados fortuitamente. Contudo, necessidades decorrentes de novos serviços algumas doenças são registadas mesmo só tendo um registados na Orphanet (ex. testes de caso reportado, para se reproduzir a abrangência de uma diagnóstico, consultas especializadas, classificação específica (nomeadamente no âmbito da associações de doentes). classificação de erros inatos do metabolismo). A actualização da enciclopédia das doenças raras é As doenças raras são registadas com um nome preferido avaliada mensalmente por uma comissão médica e e com vários sinónimos, como necessário. Um cientifica dentro da Orphanet e posteriormente validada identificador exclusivo, o número ORPHA, é atribuído por especialistas consultados. aleatoriamente pela base de dados a cada doença. Este número não é reutilizado, por isso, é estável no tempo. Apresentação de dados Os números ORPHA listados no passado podem estar Nomes e sinónimos de doenças preferidos são ausentes na enciclopédia actual. Isto deve-se a: listados por ordem alfabética com o respectivo número ORPHA. Obsolescência de entradas (por exemplo entidades duplicadas, doenças que já não são Entidades desaprovadas são listadas com o número raras); ORPHA precedido pelo sinal “→ “. A tabela em anexo lista o nome da doença rara a ser usada e o seu número Desaprovação de entidades quando uma ORPHA com a entidade desaprovada e o seu número entidade não existe por si só, mas foi ORPHA desaprovado. reconhecida como sendo uma outra entidade. Neste caso, as informações sobre a entidade Entidades obsoletas não estão listadas aqui. No caso de obsoleta são movidas e os utilizadores são duplicados, a nomenclatura da entidade obsoleta foi redireccionados para a entrada alvo. adicionada à doença rara listada aqui. Série de Relatórios Orphanet - Lista de doenças raras e sinónimos listadas por número alfabético - Fevereiro 2016 http://www.orpha.net/orphacom/cahiers/docs/PT/lista_de_doen-as_raras_por_ordem_alfabetica.pdf 2 Número Nome da Número Nome da Doenças raras listadas ORPHA doença ORPHA doença por ordem alfabética 48818 Aceruloplasminemia Aciduria metilmalónica por Acidemia combinada malónica e 280183 deficiência do receptor da Número Nome da 289504 metilmalónica transcobalamina ORPHA doença 941 Acidémia D-glicérica Acidúria metilmalónica sensível à 445038 3-methylglutaconic aciduria type 7 28 33 Acidemia isovalérica vitamina B12 46,XY disorder of sex development Acidemia metilmalónica com 29 Acidúria mevalónica 443087 due to testicular 17,20-desmolase 79282 homocistinúria, tipo cblC 30 Acidúria orótica hereditária deficiency Acidemia metilmalónica com 31 Acidúria oxoglutárica 46,XY ovotesticular disorder of sex 79283 325345 homocistinúria, tipo cblD 32 Acidúria piroglutâmica development Acidémia metilmalónica sensível à 922 Acilia nasal familiar 99329 48,XYYY, síndrome 79310 vitamina B12 tipo cbl A 424046 Acinar cell carcinoma of pancreas 261534 49,XXXYY syndrome Acidémia metilmalónica sensível à Acinésia súbita primária 401986 1p31p32 microdeletion syndrome 79311 75567 vitamina B12 tipo cbl B progressiva 363680 2p13.2 microdeletion syndrome Acidémia metilmalónica sensível à 932 Acondrogénese 2p21 microdeletion syndrome 79312 369881 vitamina B12 tipo mut- 93299 Acondrogénese tipo 1A without cystinuria →79189 Acidemia pipecólica 93298 Acondrogénese tipo 1B 435638 3p25.3 microdeletion syndrome 35 Acidémia propiónica 93296 356947 Acondrogénese tipo 2 3q26q27 microdeletion syndrome →2609 Acidemia succínica 15 Acondroplasia 397695 3q27.3 microdeletion syndrome 36382 Acidente vascular cerebral, familiar Acondroplasia e 329802 5p13 microduplication syndrome 935 17 Acidose láctica congénita infantil agamaglobulinemia, tipo suíço 324313 9p13 microdeletion syndrome 18 Acidose renal tubular distal Acondroplasia grave - atraso do 352665 9q21 microdeletion syndrome 47159 Acidose renal tubular proximal 85165 desenvolvimento - acantose 9q31.1q31.3 microdeletion 401923 93610 Acidose tubular renal - anemia nigricans syndrome →402041 Acidose tubular renal - surdez Acquired adult-onset 10q22.3q23.3 microdeletion 306431 276413 Acidose tubular renal autossómica immunodeficiency syndrome 93608 dominante Acquired kidney disease-associated 10q22.3q23.3 microduplication 404514 276422 Acidose tubular renal autossómica renal cell carcinoma syndrome →402041 recessiva Acro-osteolysis-keloid-like lesions- 11p15.4 microduplication 363665 300305 Acidose tubular renal proximal premature aging syndrome syndrome 314889 autossómica dominante 221054 Acrocefalopolidactilia 11q22.2q22.3 microdeletion 444002 Acidose tubular renal proximal, Acrodermatite contínua supurativa syndrome 163931 93607 com anomalias oculares e atraso de Hallopeau 412035 13q12.3 microdeletion syndrome mental Acrodermatite enteropática por 264200 14q22q23 microdeletion syndrome 37 79154 Acidúria 2-aminoadípica deficiência de zinco 14q24.1q24.3 microdeletion 401935 939 Acidúria 3-hidroxiisobutírica 950 Acrodisostose syndrome 67046 Acidúria 3-metilglutacónica tipo 1 Acrodisostose com resitências 352629 16q24.1 microdeletion syndrome 280651 67047 Acidúria 3-metilglutacónica tipo 3 hormonais múltiplas 363958 17q21.31 microdeletion syndrome Acromatopsia incompleta, ligada ao 67048 Acidúria 3-metilglutacónica tipo 4 16 357001 19p13.13 microdeletion syndrome X 22 Acidúria 4-hidroxibutírica 19p13.3 microduplication 49382 Acromatópsia total 447980 23 Acidúria argininosuccínica syndrome 963 79315 Acromegalia 444051 Acidúria D-2-hidroxiglutárica 20q11.2 microdeletion syndrome 39 Acromelanose 51208 Acidúria formiminoglutâmica 20q11.2 microduplication 41 363659 24 Acropigmentação de Dohi syndrome Acidúria fumárica Acropigmentação reticulada de 439232 20 Acidúria hidroximetilglutárica 178307 AApoAIV amyloidosis Kitamura 54251 79314 Acidúria L-2-hidroxiglutárica Abcessos asséticos cortico-sensíveis 38 Acroqueratoelastoidose de Costa 943 Acidúria malónica 14 Abetalipoproteinemia Acroqueratose verruciforme de Acidúria metilmalónica - 79151 920 Abléfaro - macrostomia, sindrome 26 Hopf homocistinúria 930 Acalásia esofágica familiar 1240 Acrosquifodisplasia metafisária Acidúria metilmalónica com 929 Acalasia microcefalia 79284 955 Acrosteólise, tipo dominante homocistinúria, tipo cblF 945 Acalvaria 330061 Acidúria metilmalónica insensível à Actinic prurigo Acantose nigricans - resistência à 27 vitamina B12, mut 0 397596 Activated PIK3-delta syndrome 90301 insulina - cãimbras musculares - alargamento acral 926 Acatalassemia → Esta doença é desaprovada e foi movida para outra (ver anexo). O número ORPHA indicado deve agora ser utilizado. Série de Relatórios Orphanet - Lista de doenças raras e sinónimos listadas por número alfabético - Fevereiro 2016 http://www.orpha.net/orphacom/cahiers/docs/PT/lista_de_doen-as_raras_por_ordem_alfabetica.pdf 3 Número Nome da Número Nome da Número Nome da ORPHA doença ORPHA doença ORPHA doença Acute encephalopathy with 314786 Adenoma pituitário silencioso 99062 Agenesia da válvula mitral 363549 biphasic seizures and late reduced 91347 Adenoma tireotrófico Agenesia da válvula pulmonar - diffusion 213792 defeito do septo ventricular - canal Adenossarcoma do colo do útero 99048 Acute infantile liver failure- 213600 Adenossarcoma do corpo uterino arterial persistente (tipo não Fallot 370088 multisystemic involvement APV/PDA) 289465 Adermatoglifia isolada syndrome Agenesia da válvula pulmonar - 36397 Adipose dolorosa Acute megakaryoblastic leukemia 101206 Tetralogia de Fallot - ausência de 329469 ADNP-related multiple congenital without Down syndrome canal arterial (tipo Fallot PVA/ADA) 404448 anomalies-intellectual disability- Acute myeloid leukemia with 95457 Agenesia da válvula tricúspide 319480 autism spectrum disorder CEBPA somatic mutations Agenesia da veia cava superior, 43 Adrenoleucodistrofia
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