Disease #00474

Official abbreviation OCA-1B
Name albinism, oculocutaneous, type IB (OCA-1B)
OMIM ID 606952
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 43
Phenotype entries for this disease 43
Associated with 1 gene TYR
Associated tissues -
Disease features -
Remarks -


Individuals

43 entries on 1 page. Showing entries 1 - 43.
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00074557 25455140 OCA_08 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - F - Colombia - >29y 0 - - OCA-1B Mild generalized hypopigmentation (HP:0007513) OCA2, TYR TYR 1 1 Pieter Klap
00074559 25455140 OCA_10 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - M - Colombia - >18y 0 - - OCA-1B Mild generalized hypopigmentation (HP:0007513) OCA2, TYR TYR 1 1 Pieter Klap
00074565 25455140 OCA_11 PubMed: Urtatiz 2014, Journal: Urtatiz 2014 - F - Colombia - >31y 0 - - OCA-1B Mild generalized hypopigmentation (HP:0007513) OCA2, TYR TYR 1 1 Pieter Klap
00089972 - PubMed: Chaki 2005b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089973 - PubMed: Gershoni-Baruch 1994 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089974 - PubMed: Giebel 1991c - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089975 - PubMed: Giebel 1991c - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089976 - PubMed: Hutton 2008a - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089977 - PubMed: Hutton 2008b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089978 - PubMed: Hutton 2008b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089979 - PubMed: Hutton 2008b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089980 - PubMed: Hutton 2008b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089981 - PubMed: Hutton 2008b - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089982 - PubMed: Hutton 2008b - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089983 - PubMed: Hutton 2008b - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089984 - PubMed: King 2003 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089985 - PubMed: King 2003 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089986 - PubMed: King 2003 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089987 - PubMed: King 2003 - - - - European - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089988 - PubMed: King 2003 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089989 - PubMed: King 2003 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089990 - PubMed: Lin 2006 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089991 - PubMed: Matsunaga 1999 - - - Japan Japanese - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089992 - PubMed: Oetting 1994 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089993 - PubMed: Opitz 2004 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089994 - PubMed: Opitz 2004 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089995 - PubMed: Park 1997b - - - Korea Korean - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089996 - PubMed: Passmore 1999 - - - Germany Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089997 - PubMed: Spritz 1993 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089998 - PubMed: Spritz 1997 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00089999 - PubMed: Spritz 1997 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090000 - PubMed: Spritz 1997 - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090001 - PubMed: Tanita 2002 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090002 - PubMed: Toyofuku 2001 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090003 - PubMed: Tripathi 1992a - - - - Caucasian - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090004 - PubMed: Wang 2009 - - - China Chinese - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090005 - PubMed: Wang 2009 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090006 - PubMed: Zahed 2005 - - - Lebanon Lebanese - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090007 - PubMed: Zahed 2005 - - - - - - 0 - - OCA-1B oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090008 - PubMed: Goto 2004 - - - Japan Japanese - 0 - - OCA-1B ?oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090009 - PubMed: Hutton 2008b - - - - Caucasian - 0 - - OCA-1B ?oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090010 - PubMed: Hutton 2008b - - - - Caucasian - 0 - - OCA-1B ?oculocutaneous albinism type IB TYR TYR 1 1 William (Bill) Oetting
00090099 - PubMed: Schnur 1996 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - 0 - - OCA-1B tyrosinase positive OCA, pale-yellow scalp hair, white eyebrows, nystagmus, photophobia, strabismus, decreased visual acuity, one pigmented compound nevus neck, several flesh-colored halo nevi, port wine stain lower lumbar region TYR TYR 2 1 William (Bill) Oetting
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