ID DISEASE MIM ETIOLOGY LOCALITY STATE FASE

Transcrição

IBGE
LAT S
CODE
2312908 3° 41′
ID
DISEASE
MIM
ETIOLOGY
LOCALITY
STATE
FASE
1
Stargardt Disease
600110
AD
Sobral
CE
1
2
Li-Fraumeni Syndrome
1 (LFS1)
151623
AD
South and
Southeast Brazil
3
Orofacial Cleft 1 (OFC1) 119530
MF
Alfenas
MG
4
3101607 21° 25′
45° 56′
AD
Marabá
PA
1
1504208 5° 22′
49° 7′
4
5
6
7
Sarcoma Viral
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
Huntington Disease
(HD)
Albinism,
Oculocutaneous, Type
II (OCA2)
190030
609541
143100
AR
AD
Serrinha dos
Pintos
Feira Grande
LONG W
BIBLIOGRAPHICAL REFERENCES
40° 21′
Achatz, MI et al., Highly prevalent TP53 mutation predisposing to
many cancers in the Brazilian populations: case for newborn
screening?, Lancet Oncol., 2009, 10:920-5.
4
Aquino, S et al., Estudo de pacientes com fendas labio-palatinas com
pais consanguíneos., Braz. j. otorhynolaryngol., 2011, 77:19-23.
Macedo-Souza, LI et al., Spastic paraplegia, optic atrophy, and
neuropathy is linked to chromosome 11q13., Ann Neurol., 2005,
57(5): 730-7.
RN
AL
4
3
2413557 06°06’
2702603 9° 54′
37°57’
36° 40′
Macedo-Souza, LI et al., Spastic paraplegia, optic atrophy, and
neuropathy: new observationslocus refinement, and exclusion of
candidates genes., Ann Hum Genet., 2009, 73(Pt 3): 382-7.
http://www.alagoas24horas.com.br/conteudo/?vCod=24294
http://brasilhuntington.blogspot.com.br/2012/10/feira-grande-alagoas-umaexperiencia.html
http://www.saude.al.gov.br/noticias/alagoana-apresenta-na-europa-estudoda-pr
http://www.iteral.al.gov.br/sala-de-imprensa/noticias/2009/03/quilombolasalbinos-iniciam-acompanhamento
203200
AR
Santana do
Mundaú
AL
2
2708105 9° 10′
noticia&id=22772&Quilombolas%20albinos%20de%20Santana%20do%20Mu
nda%FA%20voltam%20ao%20Hospital%20Universit%E1rio%20de%20Macei%
F3
8
Minamata Disease
ENV
Rio Tapajós
AM
1
2° 26′
9
Malformations
ENV
Angra dos Reis
RJ
3
3300100 23° 0′
10
Chondrodysplasia,
Grebe Type
AR
South of Bahia
BA
4
200700
36° 13′ http://tribunauniao.com.br/?pagina=ver-
54° 42′
VIEIRA, DKR. Atenção em genética médica no SUS: a experiência de
44° 19′ um município de médio porte. Physis [online]. 2013, vol.23, n.1, pp.
243-261.
Quelce-Salgado, A et al., A new type of dwarfism with various bone
aplasias and hypoplasias of the extremities., Acta Genet Stat Med.,
1964, 14:63-6.
11
12
13
14
Gaucher Disease, Type I 230800
Trichoepithelioma,
Multiple Familial, 1
Malformations
Albinism of Undefined
Type
601606
203200
AR
Tabuleiro do
Norte
CE
4
2313104
5˚15'
38˚07'
AD
Aracati
CE
3
2301109 4° 33′
37° 46′
MF
Jetibá
ES
1
20° 1′
40° 44′
AR
Cururupu (Ilha
dos Lençóis)
Gadelha Chaves R et al. Successful Screening for Gaucher Disease in a
High-Prevalence Population in Tabuleiro do Norte (Northeastern
Brazil): A Cross-Sectional Study JIMD Reports Case and Research
Report 1: 73-8, 2011
Freire-Maia, N et al., Genetic investigations in a northern Brazilian
island. I. Population structure., Hum Hered., 1978, 28(5):386-96.
MA
4
2103703 1˚ 49’
44˚ 51’
Freire-Maia, N et al., Genetic investigations in a Northern Brazilian
island. II. Random drift., Hum Hered., 1978, 28(6):401-10.
15
Neu-Laxova Syndrome
(NLS)
256520
AR
São José do
Pântano
MG
4
16
Acheiropody
200500
AR
Minas Gerais
MG
4
22° 13′
Sakata MT, Poletta F, Lopez-Camelo J, Rosenberg C, Castilla EE,
Cavalcanti DP Neu-Laxova syndrome (NLS) and congenital anomalies
45° 56′ of the spectrum of this syndrome in a highly inbred family. Could
these anomalies represent clinical manifestations in heterozygotes?
NLS-HetManif-ICHG-2011).
Freire-Maia, A et al., Genetics of acheiropodia (the handless and
footless families of Brazil). Clin Genet., 1975, 7(2):98-102. / FreireMaia, A et al.,
Historical note: the extraordinary handless and footless families of
Brazil - 50 years of acheiropodia., Am J Med Genet., 1981, 9(1):31-41.
17
Twinning
MF
Goianá
MG
1
3127388 21° 32′
43° 12′
18
Hyaline Fibromatosis
Syndrome (HFS)
AR
Picos
PI
1
2208007
41° 28′
19
Malformations
MF
Mangaratiba (Ilha
de Marambaia)
RJ
1
3302601 22° 57′
20
Malformations
ENV
Triunfo
RS
4
228600
4322004
7° 4′
29° 56′
44° 2′
Oliveira, LM et al., Riscos reprodutivos em região próxima ao pólo
51° 43′ petroquímico de Triunfo no Sul do Brasil., Rev. Saúde Pública [online],
2002, 36: 81-87.
21
Twinning
22
GM1-Gangliosidosis,
Type I
23
4304309
27° 57′
Matte, U et al., Study on possible increase in twinning rate at a small
village in south Brazil., Acta Genet Med Gemellol (Roma)., 1996,
54° 45′ 45(4):431-7./
Tagliani-Ribeiro, A et al., Twin Town in South Brazil: a Nazi's
experiment or a genetic founder effect?, PLoS One., 2011,
6(6):e20328.
Severini, MH et al., Six novel beta-galactosidase gene mutations in
51° 13′ Brazilian patients with GM1-gangliosidosis., Hum Mutat., 1999,
13(5):401-9.
Ewald, IP et al., Prevalence of the BRCA1 founder mutation
c.5266dupin Brazilian individuals at-risk for the hereditary breast and
ovarian cancer syndrome., Hereditary Cancer in Clinical Practice,
2011, 9:12
Lopes-Cendes et al., 1997 (Maciel, P et al., Mosaicism of the CAG
repeat in CNS tissue in relation to age at death in spinocerebellar
ataxia type 1 and Machado-Joseph disease patients., Am J Hum
Genet., 1997, 60(4): 993–996.)
MF
Cândido Godoi
RS
4
230500
AR
Grande Porto
Alegre
RS
4
Breast-Ovarian Cancer,
Familial
604370
AD
Geographically
Dispersed
RS
4
24
Machado-Joseph
Disease (MJD)
109150
AD
Geographically
Dispersed
RS
3
26
Anencephaly
206500
ENV
Triunfo
RS
4
4322004 29° 56′
51° 43′
Oliveira, LM et al., Reproductive outcomes in an area adjacent to a
petrochemical plant in southern Brazil., Rev. Saúde Pública, 2002, 36.
27
Anencephaly
206500
ENV
Montenegro
RS
4
4312401 29° 41′
51° 27′
Oliveira, LM et al., Reproductive outcomes in an area adjacent to a
petrochemical plant in southern Brazil., Rev. Saúde Pública, 2002, 36.
4314902 30° 1′
Pereira RM, et al. Heterozygosity for a Mutation in the Growth
Hormone-Releasing Hormone Receptor Gene Does Not Influence
Adult Stature, But Affects Body Composition. J Clin Endocrinol Metab
92:2353–2357, 2007.
28
Isolated Growth
Hormone Deficiency,
Type IA (IGHD1A)
262400
AR
Itabaianinha
SE
4
2803005 11° 16′
37° 47′
29
Anencephaly
206500
ENV
Criciúma
SC
1
4204608 28° 40′
49° 22′
30
Anencephaly
206500
ENV
Cubatão
SP
4
3513504 23° 53′
31
Anencephaly
206500
ENV
Caçapava
SP
1
3508504 23° 6′
Souza AH, et al. Hormônio do Crescimento ou Somatotrófico: Novas
Perspectivas na Deficiência Isolada de GH a Partir da Descrição da
Mutação no Gene do Receptor do GHRH nos Indivíduos da Cidade de
Itabaianinha, Brasil. Arq Bras Endocrinol Metab, 48: 406-13 2004.
Monteleone-Neto, R et al., Apparently normal frequency of
46° 25′ congenital anomalies in the highly polluted town of Cubatão, Brazil.,
Am J Med Genet., 1994, 52(3):319-23.
45° 42′
33
Xeroderma
Pigmentosum,
Complementation
Group D (XPD)
Familial Cancer
34
Neuromuscular Disease
NI
Cascavel
CE
1
2303501
35
Dwarfism
Mucolipidosis II
Alpha/Beta
Meckel Syndrome, Type
I (MKS1)
I (MKS1)
I (MKS1)
Albinism,
II (OCA2)
GM1-Gangliosidosis,
Type I
NI
Portão
Girau do
Ponciano
RS
1
4314803 29° 42′
51° 14′
AL
2
2702900 9° 53′
36° 49′
32
36
37
38
39
40
41
278730
AR
Faina
GO
4
5207535 15° 26′
Soltys DT et al. Novel XPG (ERCC5) mutations affect DNA repair and
50° 21′ cell survival after ultraviolet but not oxidative stress. Hum Mutat.
2013 34:481-9.
MF
Brejo Santo
CE
1
2302503 7° 29′
38° 59′
38° 14′
4° 7′
252500
AR
249000
AR
Itapé
BA
2
2916203 14° 53′
39° 25′
249000
AR
Cambuí
MG
2
3110608 22° 34′
46° 3′
249000
AR
Pouso Alegre
MG
2
3152501 22° 13′
45° 56′
203200
AR
Quipapá
PE
2
2611507 08°49’
36° 00’
230500
AR
Nossa Senhora da
Glória
SE
1
2804508 10° 13′
37° 25′
42
Short Rib-Polydactyly
Syndrome, Type IIA
(SRPS2A) (VermaNamouff)
263510
AR
Gameleira
PE
2
2605905 8° 35′
Cavalcanti DP et al. Mutation in IFT80 in a fetus with the phenotype
35° 23′ of Verma-Naumoff provides molecular evidence for Jeune-VermaNaumoff dysplasia spectrum J Med Genet 2011; 48:88-92.
43
Opsismodysplasia
(OPSMD)
258480
AR
Belo Jardim
PE
2
2601706 7° 47′
35° 35′
Diaphanospondylodyso
608022
stosis
AR
Itupiranga
PA
2
1503705
5° 8′
9° 7′
44
45
Chondrodysplasia,
Blomstrand Type
215045
AR
Mata Grande
AL
4
2705002
46
Chondrodysplasia,
Blomstrand Type
215045
AR
Ouro Branco
AL
4
2706109 9° 10′
Huber C et al. Exome Sequencing Identiﬁes INPPL1 Mutations as a
Cause of Opsismodysplasia. Am J Hum Genet 92: 1–6, 2013.
CAVALCANTI DP et al. Diaphanospondylodysostosis – another
49° 19′ evidence for autosomal recessive inheritance and exclusion of IFT80
gene. Abstract ESHG, 2009 (Vienna) P02-164.
Sakata MT et al. Blomstrand dysplasia – evidence of founder effect in
37° 44′ a small northeast Brazilian region. Abstract ESHG, 2009 (Vienna) P02158.
37° 21′ a small northeast Brazilian region. Abstract ESHG, 2009 (Vienna) P02158.
a small northeast Brazilian region. Abstract ESHG, 2009 (Vienna) P02158.
47
Chondrodysplasia,
Blomstrand Type
215045
AR
Batalha
AL
4
2700706 9° 40′
37° 7′
48
Cerebellotrigeminal
Dermal Dysplasia
(Gómez-LópezHernández)
601853
AR
Region of
Ribeirão Preto
SP
4
3543402 21° 10′
Munoz MVR et al. Cerebello-trigeminal-dermal dysplasia (Gomez47° 48′ Lopez-Hernandez syndrome): description of three new cases and
review. Am J Med Genet 72: 34-39, 1997.
49
Neurodegenerative
Muscular Disease
NI
Comunidade Boa
Vista. Macau
RN
1
2407203 04˚ 49'
Santos, S. et al. Increased prevalence of inherited neuromuscular
37˚ 02' disorders due to endogamy in Northeast Brazil: the need of
community genetics services. J Community Genet. 2013
Garritano, S et al., Detailed haplotype analysis at the TP53 locus in
p.R337H mutation carriers in the population of Southern Brazil:
evidence for a founder effect., Hum. Mutat., 2010, 31: 143–150.
Adrenocortical
Carcinoma, Hereditary
(ADCC)
202300
51
Fragile X Mental
Retardation Syndrome
300624
XL
Unaí
MG
1
3170404 16° 21′
46° 54′
52
Orofacial Cleft 1 (OFC1) 119530
MF
Natal
RN
1
2408102 5° 47′
35° 12′
53
Hereditary Motor and
Sensory Neuropathy, 604484
Proximal Type (HMSNP)
AD
Geograficamente
dispersa /
Japanese
descendants
PR
4
4114401 25° 56′
Ribas, JL et al., High prevalence of rheumatoid factor associated with
52° 10′ clinical manifestations of rheumatic disease in Kaingang and Guarani
Indians from Southern Brazil., Rheumatol Int., 2009, 29:427-30.
BA
2
2921203 11° 25′
40° 35′
50
AD
Paraná
PR
4
Figuiredo, BC et al., Penetrance of adrenocortical tumours associated
with the germline TP53 R337H mutation., J Med Genet., 2006, 43:9196.
54
Rheumatoid Arthritis
(RA)
180300
MF
Kaingang
Amerindian
Reserve Mangueirinha
55
Albinism,
IA (OCA1A)
203100
AR
Miguel Calmon
Maeda, K et al., Hereditary motor and sensory neuropathy (proximal
dominant form, HMSN-P) among Brazilians of Japanese ancestry., Clin
Neurol Neurosurg., 2007, 109:830-2.
2
56
Albinism,
Oculocutaneous, Type 203200
II Mental Retardation, X- 300419
Linked
AR
Luís Antônio
SP
1
3527603 21° 33′
47° 42′
203100
AR
Maraú (Ilha dos
Sapinhos)
BA
2
2920700 14° 06′
38° 59′
203100
AR
Salvador (Ilha da
Maré)
BA
2
2927408 12° 58′
38° 02′
Itacaré
Piracicaba - Santa
Olímpia
Fortaleza dos
Valos
BA
1
2914901 14° 16′
38° 59′
SP
1
3538709 22° 43′
47° 38′
RS
4
4308458 28° 46'
53° 13"
59
Albinism,
IA (OCA1A)
Albinism,
IA (OCA1A)
Dwarfism
60
Beta-Thalassemia
613985
AR
61
Lymphedema,
Hereditary, IA
153100
NI
62
Fragile X Mental
Retardation Syndrome
300624
XL
Coronel Macedo
SP
1
3512605 23° 37′
49° 18′
63
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
609541
AR
São Miguel
RN
4
2412500 6° 12'
39° 29'
65
Familial Adenomatous
Polyposis 1 (FAP1)
175100
AD
São Marcos
RS
1
4319000 28° 58′
51° 4′
109150
AD
General Câmara
RS
3
4308805 29° 54′
51° 45′
203200
AR
Countryside
RS
1
RS
1
30° 1′
51° 13′
PB
2
2506251 7° 34′
35° 47′
57
58
66
67
Machado-Joseph
Disease (MJD)
Albinism,
II (OCA2)
NI
68
Anencephaly
206500
MF
69
Adrenal Hyperplasia,
Congenital
201910
AR
Rio dos Sinos
Valley, near Porto
Alegre
Gado Bravo e
regiões
Santos et al. Inbreeding levels in Northeast Brazil: Strategies for the
prospecting of new genetic disorders. Genet Mol Biol. 2010: 220-3
AR
Serra Branca and
neighboring
towns
PB
2
2515500 7° 28′
36° 39′
AR
Conceição
PB
2
2504405 7° 33′
38° 30′
170650
203200
AR
Duque de Caxias
RJ
1
3301702 22˚47'
43˚18'
203200
AR
Baia Formosa
RN
1
2401404 6° 22′
35° 0′
313200
AR
Fortaleza
CE
1
2304400
38˚32’
70
Mucopolysaccharidosis,
253000
Type IVA (MPS4A)
71
253000
Type IVA (MPS4A)
72
73
74
Periodontitis,
Aggressive, 1
Albinism,
II (OCA2)
Albinism,
II (OCA2)
Spinal and Bulbar
Muscular Atrophy, XLinked 1 (SMAX1)
3˚43’
75
Hypopigmentation and
Mental Retardation
NI
Sertao de Urucuia
MG
1
3170529 16° 01′
45° 37′
76
Short Stature
NI
Ilha dos Porcos,
near Ubatuba
SP
1
3555406 23° 26′
45° 4′
AR
São Miguel
RN
2
2412500 6° 12'
39° 29'
NI
Ponta Grossa
Beach, Icapuí
CE
1
2305357 4° 42′
37° 21'
AR
Ouro Branco
RN
2
2408508 6° 42′
36° 56′
MF
Baraúna
RN
1
2401453
37° 37′
77
78
79
81
Spastic Paraplegia 35
(SPG35)
Skeletal Dysplasia, not
specified
Muscular Dystrophy,
Limb-Girdle, Type 2B
Mental Disorder, not
specified
612319
253601
5° 4′
82
ThalidomidePhocomelia
ENV
Cajari
MA
4
2102507 3° 19′
45° 0′
83
Ictericia, not specified
NI
Povoado de
Maruais. Craíbas
AL
2
2702355 9° 37′
36° 46′
Vianna FSL et al Recognition of the phenotype of thalidomide
embryopathy in countries endemic for leprosy: new cases and review
of the main dysmorphological findings. Clinical Dysmorphology 2013,
22:59–63
84
Clubfoot, Congenital
119800
85
253220
Type VII (MPS7)
86
Alpha-Thalassemia
Retardation Syndrome,
X-Linked (ATRX)
87
88
89
Lábrea
AM
1
1302405 7° 15′
64° 47′
AR
São Miguel
RN
2
2412500 6° 12'
39° 29'
Santos et al. A endogamia explicaria a elevada prevalencia de
deficiencias em populacoes do Nordeste Brasileiro? Ciencia e Saude
Coletica, 18: 1141-50, 2013.
prospecting of new genetic disorders. Genet Mol Biol. 2010: 220-3.
301040
Usher Syndrome, Type I
276900
(USH1)
Muscular Dystrophy,
Duchenne Type
MF
XL
São Miguel
RN
2
2412500 6° 12'
39° 29'
Coletica, 18: 1141-50, 2013.
AR
São Miguel
RN
2
2412500 6° 12'
39° 29'
Coletica, 18: 1141-50, 2013.
310200
Lipodystrophy,
Congenital Generalized, 269700
Type 2 (CGL2)
XL
São Miguel
RN
2
2412500 6° 12'
39° 29'
Coletica, 18: 1141-50, 2013.
AR
São Miguel
RN
4
2412500 6° 12'
39° 29'
Coletica, 18: 1141-50, 2013.
90
Achondroplasia (ACH)
100800
AD
São Miguel
RN
2
2412500 6° 12'
39° 29'
Coletica, 18: 1141-50, 2013.
91
Charcot-Marie-Tooth
Disease
606482
AD
São Miguel
RN
2
2412500 6° 12'
Coletica, 18: 1141-50, 2013.
92
Spinal Muscular
Atrophy, Type I (SMA1)
253300
AR
São Miguel
RN
2
2412500 6° 12'
93
Lesch-Nyhan Syndrome
300322
(LNS)
XL
São Miguel
RN
2
2412500 6° 12'
94
95
96
Deafness, Autosomal
Dominant 18 (DFNA18)
Clubfoot, Congenital
Acetabular Dysplasia
39° 29'
606012
119800
142700
AD
MF
MF
São Miguel
São Miguel
São Miguel
RN
RN
RN
2
1
2
39° 29'
Coletica, 18: 1141-50, 2013.
39° 29' Coletica, 18: 1141-50, 2013.
2412500 6° 12'
39° 29' Coletica, 18: 1141-50, 2013.
2412500 6° 12'
39° 29' Coletica, 18: 1141-50, 2013.
2412500 6° 12'
39° 29' Coletica, 18: 1141-50, 2013.
97
98
99
100
101
102
Spastic Paraplegia 35,
Autosomal Recessive
(SPG35)
Cystic Fibrosis (CF)
Autosomal Recessive
(SPG35)
Osteogenesis
Imperfecta, Type II
Autosomal Recessive
(SPG35)
Friedreich Ataxia 1
(FRDA)
612319
AR
Serrinha dos
Pintos
RN
2
2413557 6° 06’
37° 57’ Coletica, 18: 1141-50, 2013.
219700
612319
166210
612319
229300
AR
AR
AD
AR
AR
Serrinha dos
Pintos
Olho-d'água do
Borges
Olho-d'água do
Borges
Pilões
Pilões
RN
RN
RN
RN
RN
2
2
2
2
2
2413557 6° 06’
37° 57’ Coletica, 18: 1141-50, 2013.
2408409 5° 57'
37° 42' Coletica, 18: 1141-50, 2013.
2408409 5° 57'
37° 42' Coletica, 18: 1141-50, 2013.
2410009 6° 16'
38° 02' Coletica, 18: 1141-50, 2013.
2410009 6° 16'
38° 02' Coletica, 18: 1141-50, 2013.
103
Spinal Muscular
253550
Atrophy, Type II (SMA2)
AR
Pilões
RN
2
2410009 6° 16'
38° 02' Coletica, 18: 1141-50, 2013.
104
253220
Type VII (MPS7)
AR
Pilões
RN
2
2410009 6° 16'
38° 02' Coletica, 18: 1141-50, 2013.
105
Muscular Dystrophy,
Congenital MerosinDeficient, 1A (MDC1A)
607855
AR
Pilões
RN
2
2410009 6° 16'
38° 02' deficiencias em populacoes do Nordeste Brasileiro? Ciencia e Saude
Coletica, 18: 1141-50, 2013.
106
Santos Syndrome
613005
AR
Riacho de
Santana
RN
4
2410801 6° 15'
38° 19' http://revistapesquisa.fapesp.br/wp-content/uploads/2009 /01/47_155.pdf
609541
AR
Encanto
RN
4
2403301 6° 06'
38° 18'
609541
AR
Pau dos Ferros
RN
4
2409407 6° 06'
38° 12'
609541
AR
Coronel João
Pessoa
RN
4
2402907 6° 16'
38° 25'
609541
AR
Doutor Severiano
RN
4
2403202 6° 05'
38° 22'
2516151 6° 45'
Weller et al. Consanguineous Unions and the Burden of Disability: A
36° 14' Population-Based Study in Communities of Northeastern Brazil. Am J
Hum Biol 24:835-40, 2012
107
108
109
110
111
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
SPOAN (Spastic
Paraplegia, Optic
Atrophy, and
Neuropathy)
Charcot-Marie-Tooth
Disease
606482
AD
Sossêgo
PB
2
112
Cerebrotendinous
Xanthomatosis (CTX)
213700
AR
Queimadas
PB
2
2512507 7° 21'
113
Deafness, Autosomal
Recessive 26 (DFNB26)
605428
AR
Queimadas
PB
2
2512507 7° 21'
114
Muscular Dystrophy,
Becker Type (BMD)
300376
XL
Ouro Velho
PB
2
2510600 7° 17'
115
253000
Type IVA (MPS4A)
AR
Coxixola
PB
2
2504850 7° 37'
116
253000
Type IVA (MPS4A)
AR
Congo
PB
2
2504702 7° 47'
AR
Jericó
PB
2
2507408 6° 32'
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
117
Muscular Dysthophy,
Limb-Girdle, Type 2B
(LGMD2B)
118
Machado-Joseph
Disease (MJD)
109150
AD
Jericó
PB
2
2507408 6° 32'
37° 48'
119
Machado-Joseph
Disease (MJD)
109150
AD
Lagoa
PB
2
2508109 6° 34'
37° 55'
120
Machado-Joseph
Disease (MJD)
109150
AD
Bom Sucesso
PB
2
2502300 6° 26'
37° 55'
121
Niemann-Pick Disease,
Type C1 (NPC1)
257220
AR
Santa Cruz
PB
2
2513208 6° 31'
38° 03'
122
Machado-Joseph
Disease (MJD)
109150
AD
Santa Cruz
PB
2
2513208 6° 31'
38° 03'
123
Myotonic Dystrophy 1
(DM1)
160900
AD
Santa Cruz
PB
2
2513208 6° 31'
38° 03'
253601
Hum Biol 24:835-40, 2012
Population-Based Study in Communities of Northeastern Brazil. Am J
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
124
Ataxia-Telangiectasia
(AT)
208900
AR
São Francisco
PB
2
2513984 6° 36'
125
(AT)
208900
AR
Uiraúna
PB
2
2516904 6° 31'
126
Machado-Joseph
Disease (MJD)
109150
AD
Uiraúna
PB
2
2516904 6° 31'
127
Neurofibromatosis,
Type I (NF1)
162200
AD
Uiraúna
PB
2
2516904 6° 31'
128
Spinal Muscular
Atrophy, Type I (SMA1)
253300
AR
Vieirópolis
PB
2
2517209 6° 30'
101200
101200
101200
AD
AD
AD
Paulínia
Limeira
Valinhos
SP
SP
SP
2
2
2
3536505 22° 45'
3526902 22° 32'
3556206 22° 58'
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
Hum Biol 24:835-40, 2012
38° 15" Population-Based Study in Communities of Northeastern Brazil. Am J
Hum Biol 24:835-40, 2012
47° 09'
47° 24'
46° 59'
249000
AR
Mogi Guaçu
SP
2
3530706 22° 22'
46° 56'
249000
AR
Sumaré
SP
2
3552403 22° 49'
47° 15'
263750
AR
Sumaré
SP
2
3552403 22° 49'
47° 15'
249000
AR
Piracicaba
SP
2
3538709 22° 43'
47° 38'
220200
AR
Indaiatuba
SP
4
3520509 23° 05'
Cavalcanti, DP et al., Dandy-Walker malformation with postaxial
47° 13' polydactyly: further evidence for autosomal recessive inheritance.,
Am J Med Genet., 1999, 85(2):183-4.
AR
Salto
SP
2
3545209 23° 12'
47° 17'
SP
2
3546306 21° 48'
47° 15'
SP
2
3523909 23° 15'
47° 17'
132
133
134
135
136
137
138
139
Apert Syndrome
Apert Syndrome
Apert Syndrome
I (MKS1)
I (MKS1)
Postaxial Acrofacial
Dysostosis (POADS)
I (MKS1)
Dandy-Walker
Syndrome (DWS)
249000
I (MKS1)
Postaxial Acrofacial
141
263750
Dysostosis (POADS)
142
Fraser Syndrome
219000
140
AR
AR
Sta. Cruz das
Palmeiras
Itu
143
Fraser Syndrome
219000
AR
Vinhedo
SP
4
3556701 23° 01'
CavalcantI, DP et al., Fraser and Ablepharon macrostomia
46° 58' phenotypes: concurrence in one family and association with mutated
FRAS1., Am J Med Genet A., 2007, 143(3):241-7.
144
Maple Syrup Urine
Disease (MSUD)
248600
AR
Vinhedo
SP
2
3556701 23° 01'
46° 58'
145
146
147
148
150
152
153
154
155
156
157
GMI-Gangliosidoses,
Type I
Seckel Syndrome 1
(SCKL1)
Cartilage-Hair
Hypoplasia (CHH)
Cartilage-Hair
Hypoplasia (CHH)
Diaphanospondylodyso
stosis
Fraser Syndrome
I (MKS1)
Lumps on the face and
body parts
Diaphragmatic Hernia,
Congenital
Type VI (MPS6)
Type II (MPS2)
230500
AR
Jundiaí
SP
2
3525904 23° 11'
46° 53'
210600
AR
Santo Antônio de
Posse
SP
2
3548005 22° 36'
46° 55'
250250
AR
Jequitinhonha
MG
2
3135803 16° 26'
41° 00'
250250
AR
Campinas
SP
2
3509502 22° 54'
47° 03'
608022
AR
Campinas
SP
2
3509502 22° 54'
47° 03
219000
AR
Três Lagoas
MS
2
5008305 20° 45'
51° 41'
249000
AR
Extrema
MG
2
3125101 22° 51'
46° 19'
NI
Casserengue
PB
1
2504157 6° 48'
35° 49'
142340
ENV
Campos dos
Goytacazes
RJ
1
3301009 21° 45'
41° 19'
253200
AR
Quixeré
CE
2
2311504
5° 4'
37° 59'
309900
XL
Aquiraz
CE
2
2301000 3° 54'
38° 23'
158
Change gears without
ataxia, Hytrophy
NI
Milagres
CE
1
2308302 7° 18'
38° 56'
159
Seizures, not specified
NI
Várzea Alegre
CE
1
2314003 5° 21'
40° 23'
AR
Mombaça
CE
2
2308500 5° 44'
39° 37'
166200
AD
São Gonçalo do
Amarante
CE
1
2312403 3° 36'
38° 58'
183090
AD
Canindé
CE
1
2302800 4° 21'
39° 18'
XL
Fortaleza
(Neighborhood:
Bom Jardim)
CE
1
2304400 3° 43'
38° 32'
160
161
162
163
253000
Type IVA (MPS4A)
Osteogenesis
Imperfecta, Type II
Spinocerebellar Ataxia
2 (SCA2)
Hypophosphatemic
Rickets, X-Linked
Dominant (XLHR)
307800
Ectodermal Dysplasia1,
164 Hypohidrotic, X-Linked
(XHED)
165
166
172
176
178
179
180
181
183
184
185
186
187
Ehlers-Danlos
Syndrome, Type I
Osteogenesis
Imperfecta, Type II
Porphyria, Acute
Intermittent
Charcot-Marie-Tooth
Disease
Aniridia (AN)
Hurler Syndrome
(MPS1H)
Albinism,
II (OCA2)
Osteogenesis
Imperfecta, Type III
Diabetes Mellitus
Waardenburg
Syndrome, Type1
(WS1)
(AT)
Myoclonic Epilepsy of
Unverricht and
Lundborg
1 (SCA1)
XL
Fortaleza
(Neighborhood:
Vila Peri)
CE
1
2304400 3° 43'
38° 32'
AD
Fortaleza
(Neighborhood:
Vila Manoel
Sátiro)
CE
1
2304400 3° 43'
38° 32'
166200
AD
Fortaleza
(Neighborhoods:
Messejana,
Jardim
Guanabara, José
Walter, Parque
Santa Maria)
CE
1
2304400
3°43'
38°32"
176000
AD
Esperantina
PI
1
2203701 5° 20′
48° 30′
118200
AD
RS
1
4317301 33° 32′
53° 20′
106210
AD
Santa Vitoria do
Palmar
Água Branca
AL
3
2700102 09˚15'
37˚56'
607014
AR
Jangada
MT
2
5104906 15˚14'
56˚29'
203200
AR
Geograficamente
dispersa
BA
2
259420
AR
Bueno Brandão
MG
3
3109105 22˚26'
46˚21'
MF
Belém
PA
1
1501402 1° 22'
48° 29'
193500
AD
Abaetetuba
PA
1
1500107 1° 42'
48° 52'
208900
AR
Tutóia
MA
1
2112506 2° 45'
42° 15'
254800
AR
São Luís
MA
1
2111300 2° 30'
44° 18'
164400
AD
São Paulo
SP
2
3550308 23° 29'
46° 38'
305100
130000
188
7 (SCA7)
164500
AD
Rio de Janeiro
RJ
2
3304557 22° 49'
43° 12'
190
Fish-Eye Disease (FED)
136120
AD
Betânia do Piaui
PI
2
2201739
8° 8'
40° 47'
191
Fish-Eye Disease (FED)
136120
AD
Canto do Buriti
PI
2
2202307 8° 10'
42° 56'
192
Skin Cancer
MF
Santa Maria de
Jetibá
ES
1
3204559 20° 1′
40° 44′
AR
Campina Grande
PB
2
2504009 7° 12'
35° 52'
232200
AR
Caxias do Sul
RS
2
4305108 29° 6'
51° 11'
232200
AR
Garibaldi
RS
2
4308607 29° 14'
51° 31'
193
194
195
253000
Type IVA (MPS4A)
Glycogen Storage
Disease Ia
Glycogen Storage
Disease Ia
196
Ichthyosis, Congenital,
Autosomal Recessive 6
(ARCI6)
612281
AR
Humaitá (Sede
Nova)
RS
2
4309704 27° 33′
53° 58′
197
Deafness, Congenital
124480
NI
Jaicós (Várzea
Queimada)
PI
1
2205201 7° 16'
41° 12'
198
Charcot-Marie-Tooth
Disease
606482
AD
Tobias Barreto
SE
1
2807402
199
Deafness, Congenital
124480
AD
PA
2
1504307 00°35’
252930
Type IIIC (MPS3C)
AR
PB
2
2504702,
2516508,
2515500
200
201
Deafness, Autossomal
Recessive 1A (DFNB1A)
202
Suicide/Consanguinity
220290
Maracana
(Fortalezinha)
Congo,Taperoá,
Serra Branca
(Cariri Region)
47°31’
AR
Monte Santo
BA
4
2921500 10°26'
39°19'
Gabrielle N. Manzoli, Kiyoko Abe-Sandes, Alan H. Bittles, Danniel
S.D. da Silva, , Luciene da C. Fernandes Roberta M.C. Paulon,, Iza
Cristina S. de Castro, Carla M.C.A. Padovani Angelina X. Acosta.
International Journal of Pediatric Otorhinolaryngology Volume 77,
Issue 7 , Pages 1077-1082, July 2013 Non-syndromic hearing
impairment in a multi-ethnic population of Northeastern Brazil
AR
Dormentes
PE
1
2605152
40°45'
Morais e Souza, 2011. Representacoes sociais do Suicidio pela
Comunidade de Dormentes - PE. PSICOLOGIA: CIÊNCIA E PROFISSÃO
31: 160-175
8°26'
203
Phenylketonuria (PKU)
204
Consanguinity
205
Netherton Syndrome
(NETH)
206
207
AR
Monte Santo
BA
2
AR
Valongo
SC
4
256500
AR
Eunapolis
BA
1
2910727 16° 22'
253200
Type VI (MPS6)
AR
Monte Santo
BA
4
2921500 10°26'
39°19'
Laron Syndrome
261600
2921500 10°26'
39°19'
Ilíada Rainha de Souza and Lodércio Culpi.Valongo, genetic studies on
an isolated Afro-Brazilian community. Genetics and Molecular
Biology, 28, 3, 402-406 (2005)
Oliveira et al., Netherton’s syndrome and lepromatous leprosy: a
39° 34' mere coincidence? International Journal of Dermatology 2013, 52,
186–190
262500
AR
Orobó
PE
4
2609709 7° 44'
GUERRA JUNIOR, Gil. Cristãos-novos no nordeste e os anões de
Orobó (PE): a genética molecular ligada à história do Brasil. Arq Bras
35° 36'
Endocrinol Metab [online]. 2005, vol.49, n.3, pp. 337-338. ISSN 00042730.
109150
AD
Sao Pedro do Sul
RS
3
4319406 29° 37′
51° 45′
173650
AR
ENV
Maravilha
Guarapari
Girau do
Ponciano
AL
ES
1
1
2704609 9° 13'
3202405 20° 39'
37° 22'
40° 30'
AL
1
2702900 9° 53′
36° 49′
209
210
Machado-Joseph
Disease (MJD)
Kindler Syndrome
Malformations
211
Muscular dystrophy
310300
XL
212
Neural Tube Defects
182940
MF
Ipatinga (Região
do Vale do Aco)
MG
1
3131307 19°28'
42°32'
213
Consaguinity
AR
Tupã (Distrito de
Varpa)
SP
1
3555000 21°56'
50°30'
208
Tatiana Amorim, Ney Boa-Sorte, Maria Efigênia Q. Leite, Angelina
Xavier Acosta. Clinical and demographic aspects of phenylketonuria in
Bahia State, Brazil. Rev Paul Pediatr 2011;29(4):612-7

ID DISEASE MIM ETIOLOGY LOCALITY STATE FASE

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ID DOENÇA MIM LOCALIDADE ESTADO LAT S LONG W