All individuals with variants in gene IDS

371 entries on 4 pages. Showing entries 1 - 100.
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ID_report     

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Remarks     

Gender     

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Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 2 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00080844 - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - MPS-2 Mucopolysaccharidosis II (OMIM:309900) 1 1 Daniel Trujillano
00100282 ? - - M - Netherlands - - 0 - - MPS-2 - 1 1 Jasper Saris
00100412 18396123-Pat1 PubMed: Galán-Gómez, Journal: Galán-Gómez 3-generation family, affected boy, maternal uncle (died at 4y) and cousin M - Spain - - 0 - enzyme replacement therapy with idursulfase MPS-2 see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation 1 3 Johan den Dunnen
00104939 - - healthy female proband, mother of two sons affected with MPS II. No clinical/genetic data was given for the index patients. F ? Germany - - 0 - - Healthy/Control - 1 1 Isabella Rau
00104940 - - Index patient, clinically and biochemically diagosed with MPS II. M ? Germany - - 0 - - MPS-2 - 1 1 Isabella Rau
00104941 - - - M ? Germany - - 0 - - MPS-2 Clinical and biochemical MPS II. 1 1 Isabella Rau
00114362 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114363 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 Mild MPSII phenotype 1 1 Miguel Angel Alcántara-Ortigoza
00114364 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114365 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114366 26762690-IDS58 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114367 26762690-IDS76 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114368 26762690-IDS7 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114369 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 Obligate carrier mother (positive familial history for Hunter syndrome) not available for analysis M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114370 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 Mild mental retardation; intellectual disability 1 1 Miguel Angel Alcántara-Ortigoza
00114371 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114372 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 Mild MPSII phenotype 1 1 Miguel Angel Alcántara-Ortigoza
00114373 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114374 26762690-IDS11 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - MPS-2 severe 1 1 Miguel Angel Alcántara-Ortigoza
00114375 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 2-generation family, 1 affected MPSII male, 2 obligate MPSII carrier sisters and obligate carrier mother due to somatic and germline mosaicism. M no Mexico Mexican - 0 - - MPS-2 - 1 3 Miguel Angel Alcántara-Ortigoza
00114376 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114377 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114378 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114379 26762690-IDS5 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - 0 - - MPS-2 severe 1 1 Miguel Angel Alcántara-Ortigoza
00114380 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114381 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114382 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114383 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114384 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 mild Hunter syndrome phenotype 1 1 Miguel Angel Alcántara-Ortigoza
00114385 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114386 - PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - 0 - - MPS-2 - 1 1 Miguel Angel Alcántara-Ortigoza
00114387 - PubMed: Birot 1996 - M - France - - 0 - - MPS-2 mild-intermediate 1 1 Johan den Dunnen
00114388 - - - M no United States - - 0 - - MPS-2 - 1 1 Janell Kierstein
00114389 - - de novo in germ cells patient's grandfather M - United Kingdom (Great Britain) - - 0 - - MPS-2 severe; never achieved bladder/bowel control, chronic diarrhea, limited speech, developmental delay 1 2 Johan den Dunnen
00114390 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 very severe; early onset of seizures, never attained speech; intellectual disability 1 1 Johan den Dunnen
00114391 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 very severe; ptosis, never attained speech; intellectual disability 1 1 Johan den Dunnen
00114392 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114393 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114394 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114395 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114396 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114397 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114398 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114399 - - - M - France - - 0 - - MPS-2 severe; epileptic seizures 1 1 Johan den Dunnen
00114400 - - - M - France - - 0 - - MPS-2 severe; MRI unusual cortical atrophy, demyelinization frontal/occipital areas 1 1 Johan den Dunnen
00114401 - - - M - - - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114402 - - - M - - - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114403 - - - M - Portugal - - 0 - - MPS-2 - 1 1 Yu Sun
00114404 - - - M - - - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114405 - PubMed: Birot 1996 - M - France - - 0 - - MPS-2 clinical features typical severe Hunter disease; MPS-II diagnosis assessed by high excretion HS/DS urine, IDS-deficiency leukocytes/fibroblasts 1 1 Johan den Dunnen
00114406 - - - M - Sweden - - 0 - - MPS-2 - 1 7 Johan den Dunnen
00114407 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114408 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114409 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114410 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114411 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114412 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114413 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114414 - - - M - Japan - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114415 - - - M - Portugal - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114416 - - - M - Portugal - - 0 - - MPS-2 severe 1 1 Yu Sun
00114417 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114418 - - - M - - - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114419 - - - M - - - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114420 - - - M - - - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114421 - - carrier mother M - Italy - - 0 - - MPS-2 intermediate; developmental delay, recurrent respiratory infections, mild dysmorphisms; abnormal urinary glycosaminoglycans, IDS deficiency leukocytes 2 1 Johan den Dunnen
00114422 - - - M - Italy - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114423 - - - M - - - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114424 - - - M - - - - 0 - - MPS-2 - 2 1 Johan den Dunnen
00114425 - - - M - - - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114426 - - - M - Spain - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114427 - - - M - Turkey - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114428 - - - M - Portugal - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
00114429 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114430 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114431 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114432 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114433 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114434 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114435 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114436 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114437 - - - M - - - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114438 - - - M - - - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114439 - - - M - Portugal - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114440 - - - M - Poland - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114441 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114442 - - - M - Japan - - 0 - - MPS-2 severe; intellectual disability 1 1 Johan den Dunnen
00114443 - - - M - Italy - - 0 - - MPS-2 intermediate 1 1 Johan den Dunnen
00114444 - - - M - - - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114445 - - - M - - - - 0 - - MPS-2 intermediate 1 1 Johan den Dunnen
00114446 11462244-PatH5 PubMed: Filocamo 2001 - M - Italy - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114447 11462244-PatH117 PubMed: Filocamo 2001 - M - Italy - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114448 - - - M - Japan - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114449 - - - M - Poland - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114450 - - - M - Japan - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114451 - - - M - Italy - - 0 - - MPS-2 - 1 1 Johan den Dunnen
00114452 - - - M - Italy - - 0 - - MPS-2 mild 1 1 Johan den Dunnen
00114453 - - - M - United Kingdom (Great Britain) - - 0 - - MPS-2 severe 1 1 Johan den Dunnen
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