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oculocutaneous albinism type 4 - decreased pigmentation of skin hair and eyes Definition for oculocutaneous albinism type 4 Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. more 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 some common symptoms decreased or absent skin pigment fair or light hair photophobia rapid eye movements some related diagnoses 1 - 3 of 3 diagnoses drugs and toxins Hartnup disease Hermansky Pudlak Syndrome   more do i have 'oculocutaneous albinism type 4'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'oculocutaneous albinism type 4' 1 - 5 of 5 diagnostic tests vision tests oculocutaneous albinism type 4 and vision tests Molecular Genetic Studies oculocutaneous albinism type 4 and Molecular Genetic Studies Biopsy skin oculocutaneous albinism type 4 and Biopsy skin Visual evoked potential (VEP) oculocutaneous albinism type 4 and Visual evoked potential (VEP) Comprehensive eye exam oculocutaneous albinism type 4 and Comprehensive eye exam therapeutic procedures for 'oculocutaneous albinism type 4'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for oculocutaneous albinism type 4: therapeutic procedure search results for 'oculocutaneous albinism type 4' 1 - 5 of 7 therapeutic procedures rankings are computer generated. please consult your health care provider. Strabismus surgery oculocutaneous albinism type 4 and Strabismus surgery Sun protection oculocutaneous albinism type 4 and Sun protection sunglasses oculocutaneous albinism type 4 and sunglasses Eyeglasses oculocutaneous albinism type 4 and Eyeglasses special filter glasses oculocutaneous albinism type 4 and special filter glasses prismatic eyeglasses oculocutaneous albinism type 4 and prismatic eyeglasses eye surgery oculocutaneous albinism type 4 and eye surgery for more please login, login is free (click to login) medications search results for 'oculocutaneous albinism type 4' rankings are computer generated. please consult your health care provider. web search results for oculocutaneous albinism type 4 Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - oculocutaneous albinism type 4 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 Oculocutaneous albinism type 4: six novel mutations in the membrane ... Oculocutaneous albinism type 4: six novel mutations in the membrane-associated ... Oculocutaneous albinism type 4 (OCA4) is an autosomal recessive hypopigmentary ... http://www.ncbi.nlm.nih.gov/pubmed/16965274?dopt=Citation   www.ncbi.nlm.nih.gov - summary Oculocutaneous albinism - References - Genetics Home Reference Gene Review: Oculocutaneous Albinism Type 4 ... in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/References   ghr.nlm.nih.gov - summary Oculocutaneous albinism - Genetics Home Reference ... oculocutaneous albinism are designated as type 1 (OCA1) through type 4 ... Gene Review: Oculocutaneous Albinism Type 4. MedlinePlus Encyclopedia: Albinism ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism   ghr.nlm.nih.gov - summary Oculocutaneous albinism - Wikipedia, the free encyclopedia The most common type of albinism, is caused by mutation of the P gene. ... can develop in freckles or moles.[4] People with OCA2 usually have fair skin ... http://en.wikipedia.org/wiki/Oculocutaneous_albinism   en.wikipedia.org - summary Oculocutaneous Albinism Type 1 Page 4. GeneReviews: Oculocutaneous Albinism Type 1 ... M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Oculocutaneous albinism type 4 is one of the most ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Oculocutaneous albinism - Gene Reviews - Clinical summary - Genetics ... ... Albinism Type 1. Gene Review: Oculocutaneous Albinism Type ... Gene Review: Oculocutaneous Albinism Type 4. Reviewed: March 2007. Published: February 17, 2009 ... http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/Gene+Reviews   ghr.nlm.nih.gov - summary Oculocutaneous Albinism Type 2 Page 4. GeneReviews: Oculocutaneous Albinism Type 2 ... M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Oculocutaneous albinism type 4 is one of the most ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary Oculocutaneous Albinism Type 1 -- GeneReviews -- NCBI Bookshelf Oculocutaneous albinism type 1 (OCA1) is characterized by reduced synthesis of ... Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1   www.ncbi.nlm.nih.gov - summary SLC45A2(1A1) - NextBio ... are a cause of oculocutaneous albinism type 4. Alternative splicing results in ... Mouse Phenotypes - Oculocutaneous albinism ... http://www.nextbio.com/b/home/home.nb?q=1A1   www.nextbio.com - summary Oculocutaneous Albinism Type 2 -- GeneReviews -- NCBI Bookshelf Oculocutaneous albinism type 2 (OCA2) is characterized by hypopigmentation of ... Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca2   www.ncbi.nlm.nih.gov - summary SLC45A2 - Wikipedia, the free encyclopedia ... patients affected by oculocutaneous albinism type 4.". Hum. Mutat. ... Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. ... http://en.wikipedia.org/wiki/SLC45A2   en.wikipedia.org - summary SLC45A2 variations in Indian oculocutaneous albinism patients. PURPOSE: Oculocutaneous albinism (OCA) is an autosomal ... oculocutaneous albinism type 4 (OCA4), which is the second most prevalent type of OCA in Japan. ... http://www.ncbi.nlm.nih.gov/pubmed/17768386   www.ncbi.nlm.nih.gov - summary Albinism: Causes - MayoClinic.com ... with this type of albinism have milky white skin, white hair and blue ... Oculocutaneous albinism 4, caused by a gene mutation on chromosome 5, is a rare ... http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes   www.mayoclinic.com - 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 ... uw), in medaka (b-locus), and in man (Oculocutaneous Albinism Type 4, OCA4) (Nat. ... http://www.ncbi.nlm.nih.gov/pubmed/12128226?dopt=Citation   www.ncbi.nlm.nih.gov - summary Ocular albinism type 1 - Wikipedia, the free encyclopedia 1 Albinism. 2 Symptoms. 3 Microscopic examination. 4 Treatment. 5 Molecular ... Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA) ... http://en.wikipedia.org/wiki/Ocular_albinism_type_1   en.wikipedia.org - summary SLC45A2 - References - Genetics Home Reference ... Oculocutaneous albinism type 4: six novel mutations in the membrane-associated ... in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. ... http://ghr.nlm.nih.gov/gene=slc45a2/show/References   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 Polymorphisms in the genes for oculocutaneous albinism type 1 and type ... ... the genes for oculocutaneous albinism type 1 and type 4 in the German population. ... Albinism, Oculocutaneous/genetics* Antigens, Neoplasm/genetics. Codon ... http://www.ncbi.nlm.nih.gov/pubmed/17516931   www.ncbi.nlm.nih.gov - summary SLC45A2 - solute carrier family 45, member 2 - Genetics Home Reference ... are responsible for oculocutaneous albinism type 4. The most common ... problems with vision that are characteristic of oculocutaneous albinism type 4. ... http://ghr.nlm.nih.gov/gene=slc45a2   ghr.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 Search Results - Genetics Home Reference Found: ...in people with oculocutaneous albinism type 1. These mutations disrupt ... gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 ... http://ghr.nlm.nih.gov/ghr/search?query=albinism   ghr.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 Reversion mutation of ib oculocutaneous albinism to wild-type ... 2005 Oct;18(5):382-4. Reversion mutation of ib oculocutaneous albinism to wild-type pigmentation in medaka fish. ... Thus, oculocutaneous albinism is not ... http://www.ncbi.nlm.nih.gov/pubmed/16162178   www.ncbi.nlm.nih.gov - summary Molecular basis of type I (tyrosinase-related) oculocutaneous albinism ... Type I (tyrosinase related) oculocutaneous albinism (OCA) ... been identified in Type I OCA including 24 missense, 4 nonsense, and 8 frameshift mutations. ... http://www.ncbi.nlm.nih.gov/pubmed/8477259   www.ncbi.nlm.nih.gov - summary Amino Acid and Organic Acid Metabolism Disorders: Inherited Disorders ... Tyrosinemia type I. Tyrosinemia type II. Alkaptonuria. Oculocutaneous albinism ... is by finding elevated urinary levels of homogentisic acid (> 4 to 8 g/24 h) ... http://www.merck.com/mmpe/sec19/ch296/ch296c.html   www.merck.com - summary Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ... (4):352. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. ... Type I oculocutaneous albinism (OCA) is an autosomal recessive disorder caused ... http://www.ncbi.nlm.nih.gov/pubmed/11295837   www.ncbi.nlm.nih.gov - summary Mutations in the MATP gene in five German patients affected by ... ... the MATP gene in five German patients affected by oculocutaneous albinism type 4. ... Oculocutaneous albinism (OCA) is caused by a deficiency of melanin ... http://www.ncbi.nlm.nih.gov/pubmed/14722913?dopt=Citation   www.ncbi.nlm.nih.gov - summary Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular ... Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. ... recessive disorder of oculocutaneous albinism and bleeding attributable to ... http://www.ncbi.nlm.nih.gov/pubmed/12664304   www.ncbi.nlm.nih.gov - summary The tyrosinase-positive oculocutaneous albinism locus maps to ... 1992 Oct;51(4):879-84. ... positive oculocutaneous albinism (ty-pos ... biosynthetic pathway, is the most common type of albinism occurring worldwide. ... http://www.ncbi.nlm.nih.gov/pubmed/1415228   www.ncbi.nlm.nih.gov - summary OCA2 - References - Genetics Home Reference Gene Review: Oculocutaneous Albinism Type 2 ... 2000 May;37(5):392-4. No abstract available. PubMed citation ... of oculocutaneous albinism (OCA) type II: the ... http://ghr.nlm.nih.gov/gene=oca2/show/References   ghr.nlm.nih.gov - summary AceView: gene:SLC45A2, a comprehensive annotation of human, mouse and ... ... are a cause of oculocutaneous albinism type 4. Alternative splicing results in ... type IV; oculocutaneous albinism, type iv; oca4; Pigmentation of hair, ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&l=SLC45A2   www.ncbi.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 ... Oculocutaneous albinism type 4 (OCA4) is caused by mutations in the MATP gene ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa   www.ncbi.nlm.nih.gov - summary MC1R - melanocortin 1 receptor (alpha melanocyte stimulating hormone ... ... and MC1R genes have many of the usual features of oculocutaneous albinism type ... resources - Information pages (4 links) Gene Reviews - Clinical ... http://ghr.nlm.nih.gov/gene=mc1r   ghr.nlm.nih.gov - summary Ocular Albinism, X-Linked Oculocutaneous albinism type 1 (OCA1) is caused by mutations in the gene TYR that ... Oculocutaneous albinism type 4 (OCA4) is caused by mutations in the MATP gene ... http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...   www.ncbi.nlm.nih.gov - summary TYRP1 - References - Genetics Home Reference 2005 Aug;68(2):182-4. No abstract available. 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 Type III tyrosinemia - Wikipedia, the free encyclopedia Type III tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4 ... Albinism: Ocular albinism (1) - Oculocutaneous albinism (Hermansky-Pudlak ... http://en.wikipedia.org/wiki/Type_III_tyrosinemia   en.wikipedia.org - summary 606574 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606574   www.ncbi.nlm.nih.gov - summary Promoter polymorphisms in the MATP (SLC45A2) gene are associated with ... ... pathogenic mutations in MATP have been shown to cause oculocutaneous albinism type 4, while other polymorphisms are known to have a role in normal ... http://www.ncbi.nlm.nih.gov/pubmed/17358008?dopt=Citation   www.ncbi.nlm.nih.gov - summary AceView: gene:TYR, a comprehensive annotation of human, mouse and worm ... Homo sapiens gene TYR, encoding tyrosinase (oculocutaneous albinism IA) ... oculocutaneous albinism, type i; oca1 and 4 others), proposed to participate in ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?exdb...   www.ncbi.nlm.nih.gov - summary OMIM Update List for May, 2002 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B. 606953 UDP-GALACTOSE-4-EPIMERASE; GALE ... 203200 OCULOCUTANEOUS ALBINISM, TYPE II; OCA2. 230350 GALACTOSE ... http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2002   www.ncbi.nlm.nih.gov - summary Genomics|HuGENet|Fact sheets The mission of the National Office of Public Health Genomics is to integrate advances in human genetics into public ... Interleukin 4 and ... Albinism Type ... http://www.cdc.gov/genomics/hugenet/factsheets.htm   www.cdc.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Ocular Motor Apraxia, Cogan Type. Oculo Dento Digital Dysplasia ... Oculocutaneous Albinism. Oculocutaneous Albinism, Chediak-Higashi... Oculodentodigital Dysplasia ... http://www.webmd.com/a-to-z-guides/health-topics/oa-oe.htm   www.webmd.com - summary A novel P gene missense mutation in a Japanese patient with ... ... Graduate School of Medicine, 1-4-3, Asahimachi Abenoku, Osaka 545-8585, Japan. BACKGROUND: Oculocutaneous albinism type II (OCA2) is an autosomal recessively ... http://www.ncbi.nlm.nih.gov/pubmed/12727022   www.ncbi.nlm.nih.gov - summary -- GeneReviews -- NCBI Bookshelf Oculocutaneous Albinism Type 2 Richard A King and William S Oetting Initial ... Oculocutaneous Albinism Type 4 Murray H Brilliant Initial Posting: November 17, ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene   www.ncbi.nlm.nih.gov - summary Eyes and vision - Genetics Home Reference Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy ... oculocutaneous albinism ... Phosphatidylinositol-4,5-bisphosphate-5 ... http://ghr.nlm.nih.gov/conditionCategory=eyesandvision   ghr.nlm.nih.gov - summary Glutaric acidemia type 2 - Wikipedia, the free encyclopedia Glutaric acidemia type 2 is an autosomal ... 4 External links [edit] Diagnosis ... Albinism: Ocular albinism (1) - Oculocutaneous albinism (Hermansky-Pudlak ... http://en.wikipedia.org/wiki/Glutaric_acidemia_type_2   en.wikipedia.org - summary AceView: Gene:TYR, a comprehensive annotation of human, mouse and worm ... AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and ... oculocutaneous albinism, type i; ... http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=h...   www.ncbi.nlm.nih.gov - summary Intrinsic to membrane - Gene Category - Genetics Home Reference ... dependent, P/Q type, alpha 1A subunit ... NPC1: Niemann-Pick disease, type C1. OCA2: oculocutaneous albinism II ... SLC26A4: solute carrier family 26, member 4 ... http://ghr.nlm.nih.gov/ghr/genesByCategory/show/GO_0005575,G...   ghr.nlm.nih.gov - summary show more 1  2