Disease #01844 (CBSD (homocystinuria, CBS deficiency (CBSD)), OMIM:236200)

Official abbreviation CBSD
Name homocystinuria, CBS deficiency (CBSD)
OMIM ID 236200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 683
Phenotype entries for this disease 683
Associated with 1 gene CBS
Associated tissues -
Disease features -
Remarks -


Individuals

683 entries on 7 pages. Showing entries 1 - 100.
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00081044 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - CBSD Thrombosis, hyperhomocysteinemic (OMIM:236200) CBS CBS 1 1 Daniel Trujillano
00181014 - - - - - - - - - - - CBSD - CBS CBS 2 1 Belen Perez
00261363 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261364 PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261365 Pat005 PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261366 Pat245/248 (sibs) PubMed: Gallagher 1998 - - - Ireland Irish - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261367 GT (2241) PubMed: de Franchis 1999, PubMed: Kraus 1999 - - - Italy - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 3 1 Johan den Dunnen
00261368 Pat676 PubMed: Kozich 1993 - F - Ireland;Germany activity 0-0.20 - 0 - pyridoxine responsive CBSD mild; ectopia lentis; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261369 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261370 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD moderate CBS CBS 1 1 Johan den Dunnen
00261371 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261372 - PubMed: de Franchis 1999 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261373 - CBS mutation database, Sebastio - - - Italy - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261374 - CBS mutation database, Sebastio - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261375 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261376 - CBS mutation database, Shih - - - Norway;Ireland;Germany - - 0 - not pyridoxine responsive CBSD no eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261377 F13L64 PubMed: Kraus 1999, V Shih - - - Norway;Ireland;Germany - - 0 - - CBSD asymptomatic CBS CBS 2 1 Johan den Dunnen
00261378 R600 PubMed: Kraus 1999, V Shih - - - China - - 0 - not pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261379 SGo PubMed: Kraus 1999, R Gordon - - - Portugal - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261380 Pat1 (LG) PubMed: Sebastio 1995 - - - Italy - - 0 - partially pyridoxine responsive CBSD severe; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261381 P977 PubMed: Coude 1998 - - - France - - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261382 Pat3 (L264) PubMed: Shih 1995 - - - Italy - - 0 - pyridoxine responsive CBSD asymptomatic CBS CBS 2 1 Johan den Dunnen
00261383 Pat5 (L265) PubMed: Shih 1995 - - - England - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261384 Pat1 PubMed: Gordon 1997 - - - England;Wales - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261385 Pat3 PubMed: Dawson 1997 - - - Australia - - 0 - partially pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261386 TS PubMed: Kraus 1999, T Ohura newborn screening - - Japan - - 0 - not pyridoxine responsive CBSD asymptomatic CBS CBS 2 1 Johan den Dunnen
00261387 - PubMed: Kraus 1999, V Shih - - - - Irish/Italian, Scandinavian - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261388 - CBS mutation database, Shih - - - United States African American - 0 - not pyridoxine responsive CBSD no eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261389 MK66 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261390 MC62/JC07 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD mild; no eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261391 AP67 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - not pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261392 Pat1 PubMed: Kluijtmans 1995 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261393 Pat2 PubMed: Gordon 1997 - - - South Africa - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261394 GM01374 PubMed: Kruger 1995 patient - - - - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261395 Pat428 PubMed: Kozich 1997 - - - Slovakia (Slovak Republic) - - 0 - not pyridoxine responsive CBSD moderate CBS CBS 1 1 Johan den Dunnen
00261396 AdZ46 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261397 S PubMed: Kraus 1999, L Kluijtmans - - - Spain - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261398 MGL199 (DM) PubMed: Kraus 1999, V Shih - - - Canada France;United Kingdom (Great Britain) - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261399 GM01559 PubMed: Kruger 1995 father patient M - - - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261400 - CBS mutation database, Shih - - - Puerto Rico - - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261401 PatWC/TC/MC PubMed: de Franchis 1994 - - - Ireland Irish - 0 - pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261402 Pat2 (ON) PubMed: Sebastio 1995 - - - Italy - - 0 - not pyridoxine responsive CBSD moderate; ectopia lentis; osteoporosis; no vascular anomaly; no skeletal involvement, epilepsy CBS CBS 1 1 Johan den Dunnen
00261403 - PubMed: Chen 1999 - - - Japan - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261404 F542 PubMed: Kraus 1999, V Shih - - - Italy - - 0 - not pyridoxine responsive CBSD mild; no eye anomaly; no skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261405 R510 (1281) PubMed: Kraus 1999, V Shih - - - - Ir, Fr/Engl, Fr - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261406 PatN2 PubMed: Kim 1997 - F - Norway - - 0 - not pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261407 PatN1 PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261408 PatN9 PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261409 PatN8 PubMed: Kim 1997 - F - Norway - - 0 - pyridoxine responsive CBSD eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261410 PatN4a PubMed: Kim 1997 - M - Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261411 Pat2 PubMed: Shih 1995 - - - Poland - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261412 Pat1 (L188) PubMed: Shih 1995 - - - Germany;Norway - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261413 - CBS mutation database, Shih - - - - Jewish - 0 - pyridoxine responsive CBSD asymptomatic CBS CBS 1 1 Johan den Dunnen
00261414 Pat4 PubMed: Shih 1995 - - - - Jewish-Ashkenazi - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261415 not in paper PubMed: Kozich and Kraus 1992 - - - Italy;France - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261416 - CBS mutation database, Sebastio - - - Italy - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261417 Fam1PatHG PubMed: Sperandeo 1996 - - - Italy - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261418 Pat3a (SS) PubMed: Sebastio 1995 family, 3 affected - - Italy - - 0 - pyridoxine responsive CBSD mild; ectopia lentis; osteoporosis; no vascular anomaly; no intellectual diability CBS CBS 2 1 Johan den Dunnen
00261419 Pat4a (ML) PubMed: Sebastio 1995 family, 2 affected - - Italy - - 0 - pyridoxine responsive CBSD mild; ectopia lentis; osteoporosis; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261420 Fam1Pat1/2/3 PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 2 1 Johan den Dunnen
00261421 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261422 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261423 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261424 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261425 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261426 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261427 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261428 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261429 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261430 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD moderate; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261431 not in paper PubMed: Kozich and Kraus 1992 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261432 not in paper PubMed: Kozich and Kraus 1992 - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261433 Pat10 (SA) PubMed: Sebastio 1995 - - - Italy - - 0 - pyridoxine responsive CBSD ectopia lentis; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261434 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD mild CBS CBS 1 1 Johan den Dunnen
00261435 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - pyridoxine responsive CBSD mild CBS CBS 1 1 Johan den Dunnen
00261436 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261437 - PubMed: Kluijtmans 1999 - - - Netherlands - - 0 - partially pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261438 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD mild CBS CBS 1 1 Johan den Dunnen
00261439 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD mild CBS CBS 1 1 Johan den Dunnen
00261440 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261441 - CBS mutation database, Kluijtmans - - - Netherlands - - 0 - pyridoxine responsive CBSD severe; eye anomaly; skeletal involvement; no vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261442 not in paper PubMed: Kozich and Kraus 1992 - - - - - - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261443 Pat2 PubMed: Tsai 1997 - - - Italy;Poland - - 0 - pyridoxine responsive CBSD mild CBS CBS 2 1 Johan den Dunnen
00261444 Pat1 PubMed: Tsai 1996 - - - - - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261445 Pat4 PubMed: Tsai 1996 - - - United Kingdom (Great Britain) Wales - 0 - pyridoxine responsive CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261446 Pat2 PubMed: Tsai 1996 - - - - - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261447 Pat3 PubMed: Tsai 1996 - - - - - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261448 Pat21 PubMed: Janosik 2001 - M - Czech Republic - - 0 - pyridoxine responsive CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261449 Pat20 PubMed: Janosik 2001 - M - Czech Republic - - 0 - pyridoxine responsive CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261450 426 PubMed: Kraus 1999, V Kozich - - - Hungary - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261451 PatN7 PubMed: Kim 1997 - M - Norway - - 0 - not pyridoxine responsive CBSD eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261452 - CBS mutation database, Linnebank - - - Germany - - 0 - pyridoxine responsive CBSD mild; eye anomaly; skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261453 - CBS mutation database, Linnebank - - - Germany - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261454 - CBS mutation database, Linnebank - - - Germany - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261455 - CBS mutation database, Linnebank - - - Germany - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261456 - CBS mutation database, Linnebank - - - Germany - - 0 - pyridoxine responsive CBSD mild; eye anomaly; no skeletal involvement; no vascular anomaly; no intellectual diability CBS CBS 1 1 Johan den Dunnen
00261457 Pat PubMed: Gaustadnes 1998 - - - Denmark - - 0 - partially pyridoxine responsive CBSD moderate; eye anomaly; no skeletal involvement; vascular anomaly; intellectual diability CBS CBS 1 1 Johan den Dunnen
00261458 Pat1 PubMed: Sperandeo 1995 - - - Spain - - 0 - pyridoxine responsive CBSD moderate CBS CBS 1 1 Johan den Dunnen
00261459 - CBS mutation database, Kraus - - - Ireland Irish - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
00261460 - CBS mutation database, Kraus - - - Ireland Irish - 0 - - CBSD see paper; … CBS CBS 1 1 Johan den Dunnen
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