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oculocutaneous albinism type 1 - decreased pigmentation of skin hair and eyes
Definition for oculocutaneous albinism type 1
Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes.
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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
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drugs and toxins
Hartnup disease
Hermansky Pudlak Syndrome
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do i have 'oculocutaneous albinism type 1'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'oculocutaneous albinism type 1'
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vision tests
oculocutaneous albinism type 1 and vision tests
Biopsy skin
oculocutaneous albinism type 1 and Biopsy skin
Visual evoked potential (VEP)
oculocutaneous albinism type 1 and Visual evoked potential (VEP)
Molecular Genetic Studies
oculocutaneous albinism type 1 and Molecular Genetic Studies
Comprehensive eye exam
oculocutaneous albinism type 1 and Comprehensive eye exam
therapeutic procedures for 'oculocutaneous albinism type 1'?
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 1:
therapeutic procedure search results for 'oculocutaneous albinism type 1'
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Strabismus surgery
oculocutaneous albinism type 1 and Strabismus surgery
Sun protection
oculocutaneous albinism type 1 and Sun protection
sunglasses
oculocutaneous albinism type 1 and sunglasses
Eyeglasses
oculocutaneous albinism type 1 and Eyeglasses
special filter glasses
oculocutaneous albinism type 1 and special filter glasses
prismatic eyeglasses
oculocutaneous albinism type 1 and prismatic eyeglasses
eye surgery
oculocutaneous albinism type 1 and eye surgery
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web search results for oculocutaneous albinism type 1
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- oculocutaneous albinism type 1
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Albinism - Wikipedia
Hyperlinked article discussing genetics, culture, visual problems, pigmentation, and albinism in non-humans.
http://en.wikipedia.org/wiki/Albinism
en.wikipedia.org
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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203100
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203100
www.ncbi.nlm.nih.gov
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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