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 -
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.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00081044 - Trujillano et al., submitted 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 - - - - Ashkenazi Jewish - 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
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7     Next › Last »