から減少の結果

63 B

10 M

1 M

200

192

to ~3 options

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

カテゴリ dermatology, 眼病, 先天性遺伝子オレゴン 周波数 珍しい (U.S.)

年齢によって起こりやすくなります

症状のある期間で可能

関連医師の種類 family practitioner internist 郵便番号 して下さいローカル その結果、コンピュータを見つけるのに役立つ場合は医師のアドバイスに生成される. MEDgleを完了させるかは、プロバイダとの専門医師やクレームの正確な提案では特定のタイプをお勧めしていません.

眼皮膚白皮症1型 - 皮膚髪や目の色素が減少した に定義されています 眼皮膚白皮症1型 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. よりたくさんの 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 いくつかの共通の現象 または存在しない皮膚の色素減少した 公正や光の髪 羞明 急速眼球運動 いくつかの関連診断 1 - 3 of 3 診断 薬物や毒素 ハートナップ病 Hermanskyのパドラック症候群   より 私はありますか？ '眼皮膚白皮症1型'? 加えて、以下の診断テストをされるとの診断に役立つかどうかを確認する必要があります: 診断テストの検索結果を得るために '眼皮膚白皮症1型' 1 - 5 of 5 診断テスト 視力検査 眼皮膚白皮症1型 および 視力検査 生検のスキンです 眼皮膚白皮症1型 および 生検のスキンです ビジュアルは、潜在的なVEPのを誘発 眼皮膚白皮症1型 および ビジュアルは、潜在的なVEPのを誘発 分子遺伝学的研究 眼皮膚白皮症1型 および 分子遺伝学的研究 包括的な目の試験を受けます 眼皮膚白皮症1型 および 包括的な目の試験を受けます 治療の手順を '眼皮膚白皮症1型'? 常に患者さんの健康管理や介護のプロバイダによって決定されるべき疾患の治療. 下記の手順または関連する治療薬の一覧です oculocutaneous albinism type 1: 治療の手順の検索結果 '眼皮膚白皮症1型' 1 - 5 of 7 治療の手順 ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. 斜視の手術 眼皮膚白皮症1型 および 斜視の手術 日保護 眼皮膚白皮症1型 および 日保護 サングラス 眼皮膚白皮症1型 および サングラス メガネ 眼皮膚白皮症1型 および メガネ 特殊なフィルターガラス 眼皮膚白皮症1型 および 特殊なフィルターガラス プリズム眼鏡 眼皮膚白皮症1型 および プリズム眼鏡 目の手術 眼皮膚白皮症1型 および 目の手術 詳細については、ログインしてください、ログイン情報（クリックしてログインする）無料です 薬の検索結果 '眼皮膚白皮症1型' ランキングは、コンピュータが生成されます. あなたの健康管理プロバイダを参照してください. ウェブ検索結果調査のための 眼皮膚白皮症1型 ウェブ（すべて）  |  治療  |  薬  |  テスト  |  調査  |  ダイエット その結果 1 - 50 - Albinism Oculocutaneous Albinism Type 1 -- GeneReviews -- NCBI Bookshelf 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 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 ... ... 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 ... 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 ... 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 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 ... 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 ... 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 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 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 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 ... 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 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 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 ... ... 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. 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 ... 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 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 ... 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 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. 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 ... 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 ... 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 ... 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 ... 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 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 ... 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 ... 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 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 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 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 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 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 ... 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 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 ... 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 ... 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 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 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 ... 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 ... 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 ... 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 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 ... 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 ... ... 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 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 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 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 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). 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 もっと表示 1  2