Disease #02247 (MPS2 (mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)), OMIM:309900)

Official abbreviation MPS2
Name mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)
OMIM ID 309900
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 403
Phenotype entries for this disease 369
Associated with 1 gene IDS
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

403 entries on 5 pages. Showing entries 1 - 100.
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Disease     
Phenotype details     
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Variants in genes
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00080844 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - MPS2 Mucopolysaccharidosis II (OMIM:309900) IDS IDS 1 1 Daniel Trujillano
00100282 ? - - M - Netherlands - - - - - MPS2 - A2M-AS1 IDS 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 - - - - enzyme replacement therapy with idursulfase MPS2 see paper; ..., coarse facial features, hepatomegaly (6 cm), splenomegaly (6 cm), elbowstiffness, hypospadias; dilatation perivascular spaces and white matter abnormalities, mitral regurgitation IDS IDS 1 3 Johan den Dunnen
00104940 - - Index patient, clinically and biochemically diagosed with MPS II. M ? Germany - - - - - MPS2 - IDS IDS 1 1 Isabella Rau
00104941 - - - M ? Germany - - - - - MPS2 Clinical and biochemical MPS II. IDS IDS 1 1 Isabella Rau
00114362 IDS3 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114363 IDS33 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 Mild MPSII phenotype IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114364 IDS60 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114365 IDS28 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114366 IDS58 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114367 IDS76 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114368 IDS7 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114369 IDS78 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 - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114370 IDS9 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 Mild mental retardation; intellectual disability IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114371 IDS47 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114372 IDS39 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 Mild MPSII phenotype IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114373 IDS62 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114374 IDS11 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - - - - MPS2 severe IDS IDS 2 1 Miguel Angel Alcántara-Ortigoza
00114375 IDS31PatII3 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 - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114376 IDS13 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114377 IDS24 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114378 IDS37 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114379 IDS5 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 carrier mother M no Mexico Mexican - - - - MPS2 severe IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114380 IDS1 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114381 IDS51 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114382 IDS22 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114383 IDS43 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114384 IDS45 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 mild Hunter syndrome phenotype IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114385 IDS71 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114386 IDS64 PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 - M no Mexico Mexican - - - - MPS2 - IDS IDS 1 1 Miguel Angel Alcántara-Ortigoza
00114387 - PubMed: Birot 1996 - M - France - - - - - MPS2 mild-intermediate IDS IDS 1 1 Johan den Dunnen
00114388 - - - M no United States - - - - - MPS2 - IDS IDS 1 1 Janell Kierstein
00114389 - - de novo in germ cells patient's grandfather M - United Kingdom (Great Britain) - - - - - MPS2 severe; never achieved bladder/bowel control, chronic diarrhea, limited speech, developmental delay IDS IDS 1 2 Johan den Dunnen
00114390 - - - M - United Kingdom (Great Britain) - - - - - MPS2 very severe; early onset of seizures, never attained speech; intellectual disability IDS IDS 1 1 Johan den Dunnen
00114391 - - - M - United Kingdom (Great Britain) - - - - - MPS2 very severe; ptosis, never attained speech; intellectual disability IDS IDS 1 1 Johan den Dunnen
00114392 Pat1 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114393 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114394 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114395 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114396 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114397 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114398 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114399 Pat1 PubMed: Froissart 1993 - M - France - - - - - MPS2 severe; epileptic seizures IDS IDS 1 1 Johan den Dunnen
00114400 Pat2 PubMed: Froissart 1993 - M - France - - - - - MPS2 severe; MRI unusual cortical atrophy, demyelinization frontal/occipital areas IDS IDS 1 1 Johan den Dunnen
00114401 CS PubMed: Vafaidaki 1998 - M - - - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114402 NH PubMed: Vafaidaki 1998 - M - - - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114403 - PubMed: Alves 2006 - M - Portugal - - - - - MPS2 - IDS IDS 1 1 Yu Sun
00114404 MW PubMed: Vafaidaki 1998 - M - - - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114405 - PubMed: Birot 1996 - M - France - - - - - MPS2 clinical features typical severe Hunter disease; MPS-II diagnosis assessed by high excretion HS/DS urine, IDS-deficiency leukocytes/fibroblasts IDS IDS 1 1 Johan den Dunnen
00114406 - - - M - Sweden - - - - - MPS2 - IDS IDS 1 7 Johan den Dunnen
00114407 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114408 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114409 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114410 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114411 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114412 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114413 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114414 - PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114415 H1 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114416 - PubMed: Alves 2006 - M - Portugal - - - - - MPS2 severe IDS IDS 1 1 Yu Sun
00114417 Pat5 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114418 H8 PubMed: Bunge 1992, PubMed: Bunge 1993 - M - Germany - - - - - MPS2 intermediate, typical features, decline in ability to speak IDS IDS 2 1 Johan den Dunnen
00114419 - PubMed: Froisart 2007 - M - - - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114420 - PubMed: Froisart 2007 - M - - - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114421 - - carrier mother M - Italy - - - - - MPS2 intermediate; developmental delay, recurrent respiratory infections, mild dysmorphisms; abnormal urinary glycosaminoglycans, IDS deficiency leukocytes IDS IDS 2 1 Johan den Dunnen
00114422 H24 PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114423 H15 PubMed: Bunge 1992 - M - Germany - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114424 Pat2 PubMed: Li 1995 - M - United States - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114425 Pat4 PubMed: Rathmann 1996 - M - - - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114426 Pat6 PubMed: Rathmann 1996 - M - Spain - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114427 Pat5 PubMed: Rathmann 1996 - M - Turkey - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114428 H3 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114429 H20 PubMed: Bunge 1992, PubMed: Bunge 1993 - M - Germany - - - - - MPS2 intermediate; skeletal deformities, psychomotoric development normal IDS IDS 1 1 Johan den Dunnen
00114431 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114432 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114434 Pat20 PubMed: Lissens 1997 - M - France - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114435 - - - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114436 Pat1 PubMed: Li 1995 - M - - - - - - - MPS2 - IDS IDS 2 1 Johan den Dunnen
00114437 H13 PubMed: Bunge 1992, PubMed: Bunge 1993 - M - Germany - - - - - MPS2 intermediate; typical features, able to talk, visits a special school IDS IDS 1 1 Johan den Dunnen
00114438 Pat25 PubMed: Rathmann 1996 - M - - - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114439 H2 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114441 DN PubMed: Vafaidaki 1998 - M - United Kingdom (Great Britain) - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114442 HT10 PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe; intellectual disability IDS IDS 1 1 Johan den Dunnen
00114443 H68 PubMed: Bonuccelli 2000, PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 intermediate IDS IDS 1 1 Johan den Dunnen
00114444 Pat23 PubMed: Rathmann 1996 - M - - - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114445 Pat24 PubMed: Rathmann 1996 - M - - - - - - - MPS2 intermediate IDS IDS 1 1 Johan den Dunnen
00114446 H5 PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114447 H117 PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114448 HT8 PubMed: Sukegawa 1995 - M - Japan - - - - - MPS2 severe; intellectual disability, dysmorphic face, joint stiffness, bone deformity IDS IDS 1 1 Johan den Dunnen
00114450 HT41 PubMed: Isogai 1998 - M - Japan - - - - - MPS2 severe; intellectual disability IDS IDS 1 1 Johan den Dunnen
00114451 H6 PubMed: Bonuccelli 1998, PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 intermediate IDS IDS 1 1 Johan den Dunnen
00114452 PatQP PubMed: Villani 1997 - M - Italy - - - - - MPS2 mild IDS IDS 1 1 Johan den Dunnen
00114453 Pat4 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114454 Pat13 PubMed: Rathmann 1996 - M - - - - - - - MPS2 - IDS IDS 1 1 Johan den Dunnen
00114455 HT11 PubMed: Sukegawa 1995 - M - Japan - - - - - MPS2 severe; no IDS activity fibroblasts; moderate intellectual disability; dysmorphic face, joint stiffness, bone deformity IDS IDS 1 1 Johan den Dunnen
00114456 HT4 PubMed: Sukegawa 1995 - M - Japan - - - - - MPS2 intermediate; intellectual disability, no dysmorphic face, joint stiffness, bone deformity IDS IDS 1 1 Johan den Dunnen
00114457 Pat3 PubMed: Flomen 1992 - M - United Kingdom (Great Britain) - - - - - MPS2 intermediate IDS IDS 1 1 Johan den Dunnen
00114458 Pat26 PubMed: Rathmann 1996 - M - - - - - - - MPS2 severe IDS IDS 1 1 Johan den Dunnen
00114460 H61 PubMed: Filocamo 2001 - M - Italy - - - - - MPS2 intermediate IDS IDS 1 1 Johan den Dunnen
00114461 H6 PubMed: Moreira da Silva 2001 - M - Portugal - - - - - MPS2 severe; intellectual disability IDS IDS 1 1 Johan den Dunnen
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