从减少的结果

63 B

10 M

1 M

200

192

to ~3 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

类别 皮肤科, 眼科疾病, 遗传或先天性 频率 少见 (U.S.)

按年龄的可能性

由症状持续时间的可能性

有关医师的类型 family practitioner internist 郵政編碼 找到的地方 結果表明，電腦產生的建議，以幫助您找到一個醫生. MEDgle不推薦任何特定類型的醫生或聲稱是完整或準確的供應商和專業建議.

眼皮肤白化病1型 - 减少皮肤色素的头发和眼睛 定义 眼皮肤白化病1型 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. 更多 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. They have an increased risk of skin damage and skin cancers, including melanoma, with sun exposure. Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). less 一些常见的症状 皮肤色素减少或缺乏 公平或浅色的头发 畏光 快速眼球运动 一些有关的诊断 1 - 3 of 3 诊断 药物和毒素 Hartnup疾病 Hermansky Pudlak综合症   更多 我有 '眼皮肤白化病1型'? 此外，下列诊断测试可能需要帮助核实诊断: 诊断测试的搜索结果 '眼皮肤白化病1型' 1 - 5 of 5 诊断测试 视力检查 眼皮肤白化病1型 和 视力检查 活检皮肤 眼皮肤白化病1型 和 活检皮肤 视觉诱发电位视觉诱发电位 眼皮肤白化病1型 和 视觉诱发电位视觉诱发电位 分子遗传学研究 眼皮肤白化病1型 和 分子遗传学研究 全面眼科检查 眼皮肤白化病1型 和 全面眼科检查 治疗程序为 '眼皮肤白化病1型'? 管理或治疗疾病应始终取决于患者的卫生保健提供者. 以下是有关治疗程序或药物 oculocutaneous albinism type 1: 治疗程序的搜索结果 '眼皮肤白化病1型' 1 - 5 of 7 治疗程序 排名是计算机生成的. 请咨询您的卫生保健提供者. 斜视手术 眼皮肤白化病1型 和 斜视手术 防晒 眼皮肤白化病1型 和 防晒 太阳镜 眼皮肤白化病1型 和 太阳镜 眼镜 眼皮肤白化病1型 和 眼镜 特殊的过滤眼镜 眼皮肤白化病1型 和 特殊的过滤眼镜 棱镜眼镜 眼皮肤白化病1型 和 棱镜眼镜 眼部手术 眼皮肤白化病1型 和 眼部手术 欲了解更多请登录，登录是免费的（点击登陆） 药品的搜索结果 '眼皮肤白化病1型' 排名是计算机生成的. 请咨询您的卫生保健提供者. 网络搜索结果 眼皮肤白化病1型 网站（所有）  |  治疗  |  药品  |  试验  |  研究  |  饮食 结果 1 - 50 - achromia Oculocutaneous Albinism Type 1 -- GeneReviews -- NCBI Bookshelf [翻译此页] Oculocutaneous albinism type 1 (OCA1) is characterized by reduced synthesis of ... Table B. OMIM Entries for Oculocutaneous Albinism Type 1. 203100 ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1   www.ncbi.nlm.nih.gov - summary Oculocutaneous Albinism Type 1 [翻译此页] Oculocutaneous albinism type 1 (OCA1) is characterized by reduced ... Table B. OMIM Entries for Oculocutaneous Albinism Type 1. 203100 ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Polymorphisms in the genes for oculocutaneous albinism type 1 and type ... [翻译此页] ... in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ... Albinism, Oculocutaneous/genetics* Antigens, Neoplasm/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/17516931   www.ncbi.nlm.nih.gov - summary Oculocutaneous albinism - Gene Reviews - Clinical summary - Genetics ... [翻译此页] Gene Review: Oculocutaneous Albinism Type 1. Gene Review: Oculocutaneous Albinism Type 2 ... Gene Review: Oculocutaneous Albinism Type 4. Reviewed: March 2007 ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/Gene+Reviews   ghr.nlm.nih.gov - summary TYR - tyrosinase (oculocutaneous albinism IA) - Genetics Home Reference [翻译此页] ... been identified in people with oculocutaneous albinism type 1. These mutations ... These mutations cause a form of oculocutaneous albinism called type 1A (OCA1A) ... http://ghr.nlm.nih.gov/gene=tyr   ghr.nlm.nih.gov - summary Oculocutaneous albinism - Wikipedia, the free encyclopedia [翻译此页] Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria ... Albinism: Ocular albinism (1) · Oculocutaneous albinism ... http://en.wikipedia.org/wiki/Oculocutaneous_albinism   en.wikipedia.org - summary Oculocutaneous albinism - Genetics Home Reference [翻译此页] ... of oculocutaneous albinism are designated as type 1 (OCA1) through type 4 (OCA4). Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism   ghr.nlm.nih.gov - summary Oculocutaneous albinism - References - Genetics Home Reference [翻译此页] ... Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in ... Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res. ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/References   ghr.nlm.nih.gov - summary Albinism: Causes - MayoClinic.com [翻译此页] Oculocutaneous albinism 1 is caused by a mutation in a gene on chromosome 11. ... King RA, et al. Oculocutaneous albinism type 1. Gene Reviews. ... http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes   www.mayoclinic.com - summary Ocular albinism type 1 - Wikipedia, the free encyclopedia [翻译此页] Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is ... Melanin: Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky ... http://en.wikipedia.org/wiki/Ocular_albinism_type_1   en.wikipedia.org - summary Albinism - MayoClinic.com [翻译此页] Albinism ? Comprehensive overview covers symptoms, causes, treatment, self-care and coping skills. ... King RA, et al. Oculocutaneous albinism type 1. Gene Reviews. ... http://www.mayoclinic.com/health/albinism/DS00941   www.mayoclinic.com - summary Molecular analysis of type I-A (tyrosinase negative) oculocutaneous ... [翻译此页] 1: Hum Genet. 1992 Nov;90(3):258-62. Molecular analysis of type I-A (tyrosinase negative) ... Type I oculocutaneous albinism (OCA) is caused by the ... http://www.ncbi.nlm.nih.gov/pubmed/1487241   www.ncbi.nlm.nih.gov - summary MedlinePlus Medical Encyclopedia: Albinism [翻译此页] Type 1 albinism is caused by defects that affect production of the pigment, melanin. ... The most severe form of albinism is called oculocutaneous albinism. ... http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm   www.nlm.nih.gov - summary OCA1 - Wikipedia, the free encyclopedia [翻译此页] Oculocutaneous Albinism Type 1 (OCA1) is the gene associated with albinism, an ... Albinism occurs when something causes the OCA1 gene to function improperly. ... http://en.wikipedia.org/wiki/OCA1   en.wikipedia.org - summary Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky ... [翻译此页] ... oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and ... characterized by oculocutaneous albinism (OCA), bleeding tendency, and lysosomal ... http://www.ncbi.nlm.nih.gov/pubmed/16417222   www.ncbi.nlm.nih.gov - summary SLC45A2 variations in Indian oculocutaneous albinism patients. [翻译此页] 1: Mol Vis. 2007 Aug 10;13:1406-11. SLC45A2 variations in Indian oculocutaneous albinism patients. ... oculocutaneous albinism type 4 (OCA4), which is the ... http://www.ncbi.nlm.nih.gov/pubmed/17768386   www.ncbi.nlm.nih.gov - summary Search Results - Genetics Home Reference [翻译此页] ... in people with oculocutaneous albinism type 1. These mutations disrupt the normal... found to cause oculocutaneous albinism type 3. This condition ... http://ghr.nlm.nih.gov/ghr/search?query=albinism   ghr.nlm.nih.gov - summary Albinism: Pigmentation Disorders: Merck Manual Professional [翻译此页] Oculocutaneous albinism (OCA) is a group of rare inherited disorders in which a ... Type I (OCA1A) is classic tyrosinase-negative albinism; skin and hair are milky ... http://www.merck.com/mmpe/print/sec10/ch123/ch123b.html   www.merck.com - summary Insertion/deletion mutations of type I oculocutaneous albinism in ... [翻译此页] 1: Hum Mutat. ... mutations of type I oculocutaneous albinism in chinese patients ... Type I oculocutaneous albinism (OCA1) is an autosomal recessive ... http://www.ncbi.nlm.nih.gov/pubmed/10571953   www.ncbi.nlm.nih.gov - summary Albinism - Wikipedia [翻译此页] Hyperlinked article discussing genetics, culture, visual problems, pigmentation, and albinism in non-humans. http://en.wikipedia.org/wiki/Albinism   en.wikipedia.org - summary Tyrp1 and oculocutaneous albinism type 3. [翻译此页] 1: Pigment Cell Res. 2001 Dec;14(6):437-44. Tyrp1 and oculocutaneous albinism type 3. ... and in the human TYRP1 gene with oculocutaneous albinism type 3 (OCA3) ... http://www.ncbi.nlm.nih.gov/pubmed/11775055   www.ncbi.nlm.nih.gov - summary TYR - References - Genetics Home Reference [翻译此页] ... Oculocutaneous Albinism Type 1 ... Oculocutaneous albinism type 1: the last 100 years. ... gene and oculocutaneous albinism type 1 (OCA1): A model ... http://ghr.nlm.nih.gov/gene=tyr/show/References   ghr.nlm.nih.gov - summary 15635296 2005 01 06 2005 08 18 1090-0535 10 2004 Dec 27 Mol. Vis ... [翻译此页] Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: ... 1005-10 PURPOSE: Oculocutaneous albinism type 1 (OCA1) patients demonstrate a ... http://www.ncbi.nlm.nih.gov/pubmed/15635296   www.ncbi.nlm.nih.gov - summary Mutations of the P gene in oculocutaneous albinism, ocular albinism ... [翻译此页] Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive ... in three patients with type II oculocutaneous albinism, one of whom also had ... http://www.ncbi.nlm.nih.gov/pubmed/8302318   www.ncbi.nlm.nih.gov - summary Recent advances in genetic analyses of oculocutaneous albinism types 2 ... [翻译此页] Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. ... Pudlak syndrome type 1. Furthermore, the pathogenic p.A481T allele for OCA2, ... http://www.ncbi.nlm.nih.gov/pubmed/18407468?ordinalpos=16&it...   www.ncbi.nlm.nih.gov - summary Genomics|HuGENet|Fact sheets [翻译此页] Insulin Gene and Type 1 Diabetes. Aiman El-Saed (Univ of Pittsburgh) ... TYRP1 and Oculocutaneous Albinism Type 3. Lisa Myers ... http://www.cdc.gov/genomics/hugenet/factsheets.htm   www.cdc.gov - summary The oculocutaneous albinism type IV gene Matp is a new marker of ... [翻译此页] The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell ... dopachrome tautomerase (DCT) and tyrosinase related protein 1 (TYRP1) (Proc. ... http://www.ncbi.nlm.nih.gov/pubmed/12128226?dopt=Citation   www.ncbi.nlm.nih.gov - summary PubMed Link Image [翻译此页] ... mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1) ... oculocutaneous albinism (OCA1A) patients who never develop any melanin pigment ... http://www.ncbi.nlm.nih.gov/pubmed/11858948   www.ncbi.nlm.nih.gov - summary Skin, hair, and nails - Genetics Home Reference [翻译此页] neurofibromatosis type 1 ... oculocutaneous albinism. Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome ... http://ghr.nlm.nih.gov/conditionCategory=skinhairandnails   ghr.nlm.nih.gov - summary Tyrosinemia type II - Wikipedia, the free encyclopedia [翻译此页] Tyrosinemia type II (also known as "Oculocutaneous tyrosinemia," and "Richner ... Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak ... http://en.wikipedia.org/wiki/Type_II_tyrosinemia   en.wikipedia.org - summary Eyes and vision - Genetics Home Reference [翻译此页] oculocutaneous albinism. Oculocutaneous albinism with leukocyte ... spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision   ghr.nlm.nih.gov - summary Hermansky-Pudlak Syndrome -- GeneReviews -- NCBI Bookshelf [翻译此页] Oculocutaneous albinism type 1 (OCA1) is caused by mutations in the TYR gene. ... Oculocutaneous albinism type 4 (OCA4) is caused by mutation in the SLC45A2 gene ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hps   www.ncbi.nlm.nih.gov - summary Ocular Albinism, X-Linked -- GeneReviews -- NCBI Bookshelf [翻译此页] Oculocutaneous albinism type 1 (OCA1) is caused by mutations in the gene TYR ... New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa   www.ncbi.nlm.nih.gov - summary Oculocutaneous albinism type 4 is one of the most common types of ... [翻译此页] Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ... Oculocutaneous albinism (OCA) is a complex genetic disease with great ... http://www.ncbi.nlm.nih.gov/pubmed/14961451   www.ncbi.nlm.nih.gov - summary TYRP1 - tyrosinase-related protein 1 - Genetics Home Reference [翻译此页] oculocutaneous albinism - caused by mutations in the TYRP1 gene ... been found to cause oculocutaneous albinism type 3. This condition includes a ... http://ghr.nlm.nih.gov/gene=tyrp1   ghr.nlm.nih.gov - summary Oculocutaneous albinism type 4: six novel mutations in the membrane ... [翻译此页] 1: Pigment Cell Res. 2006 Oct;19(5):451-3. Oculocutaneous albinism type 4: six novel mutations in ... Oculocutaneous albinism type 4 (OCA4) is an autosomal ... http://www.ncbi.nlm.nih.gov/pubmed/16965274?dopt=Citation   www.ncbi.nlm.nih.gov - summary MC1R mutations modify the classic phenotype of oculocutaneous albinism ... [翻译此页] MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2) ... variation in the melanocortin-1 receptor (MC1R) gene is associated ... http://www.ncbi.nlm.nih.gov/pubmed/12876664   www.ncbi.nlm.nih.gov - summary Glutaric aciduria type 1 - Wikipedia, the free encyclopedia [翻译此页] Glutaric acidemia type 1 (or "Glutaric Aciduria", "GA1", or "GAT1") is an ... Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak ... http://en.wikipedia.org/wiki/Glutaric_aciduria_type_1   en.wikipedia.org - summary 203100 [翻译此页] http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100   www.ncbi.nlm.nih.gov - summary Oculocutaneous albinism - Gene Tests - DNA tests ordered by healthcare ... [翻译此页] Genetic Conditions > oculocutaneous albinism > ... Gene Tests: Oculocutaneous Albinism Type 1. Gene Tests: Oculocutaneous Albinism Type 2 ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/Gene+Tests   ghr.nlm.nih.gov - summary The etiology of oculocutaneous albinism (OCA) type II: the pink protein ... [翻译此页] 1: Pigment Cell Res. 2002 Jun;15(3):217-24. Erratum in: Pigment Cell Res. 2002 Oct;15(5):400. ... Oculocutaneous albinism (OCA) is caused by reduced or ... http://www.ncbi.nlm.nih.gov/pubmed/12028586   www.ncbi.nlm.nih.gov - summary PubMed Link Image [翻译此页] ... basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and ... 1-6 Type I (tyrosinase related) oculocutaneous albinism (OCA) results from ... http://www.ncbi.nlm.nih.gov/pubmed/8477259   www.ncbi.nlm.nih.gov - summary Search Suggestions - Genetics Home Reference [翻译此页] Oculocutaneous Albinism Type 1. GeneReviews topic. OCA2:oculocutaneous albinism II. Entrez Gene digest on Genetics Home Reference ... http://ghr.nlm.nih.gov/search/show/suggestions?query=albinism   ghr.nlm.nih.gov - summary OMIM Update List for November, 2003 [翻译此页] ... OCULOCUTANEOUS ALBINISM, ... 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2. 212500 CATARACT, ... TYPE I; OA1. 305371 GATA-BINDING PROTEIN 1; GATA1 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2003   www.ncbi.nlm.nih.gov - summary MC1R - melanocortin 1 receptor (alpha melanocyte stimulating hormone ... [翻译此页] ... of people with oculocutaneous albinism type 2. This form of albinism, ... and MC1R genes have many of the usual features of oculocutaneous albinism type ... http://ghr.nlm.nih.gov/gene=mc1r   ghr.nlm.nih.gov - summary OMIM Update List for March, 2001 [翻译此页] 192500 LONG QT SYNDROME 1. 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 ... Clinical Synopsis for 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2 ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?3.2001   www.ncbi.nlm.nih.gov - summary OMIM Update List for May, 2002 [翻译此页] 203100 OCULOCUTANEOUS ALBINISM, TYPE 1; OCA1. 242650 PRIMARY CILIARY DYSKINESIA; PCD ... for 203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1. May 1, 2002. New ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2002   www.ncbi.nlm.nih.gov - summary TYRP1 - References - Genetics Home Reference [翻译此页] 1998 Jan;9(1):50-3. PubMed citation ... Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437-44. Review. ... http://ghr.nlm.nih.gov/gene=tyrp1/show/References   ghr.nlm.nih.gov - summary SLC45A2 - Wikipedia, the free encyclopedia [翻译此页] Oculocutaneous albinism type 4 is one of the most common types of ... in the genes for oculocutaneous albinism type 1 and type 4 in the German population. ... http://en.wikipedia.org/wiki/SLC45A2   en.wikipedia.org - summary Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). [翻译此页] 1: Hum Mutat. 1997;10(2):175-7. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2) ... Albinism, Oculocutaneous/genetics* Carrier Proteins ... http://www.ncbi.nlm.nih.gov/pubmed/9259203   www.ncbi.nlm.nih.gov - summary 显示更多 1  2