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oculocutaneous albinism type 2 - decreased pigmentation of skin hair and eyes
Definition for oculocutaneous albinism type 2
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 eye pigment
decreased or absent skin pigment
photophobia
rapid eye movements
some related diagnoses
1 - 1 of
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Hermansky Pudlak Syndrome
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do i have 'oculocutaneous albinism type 2'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'oculocutaneous albinism type 2'
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diagnostic tests
vision tests
oculocutaneous albinism type 2 and vision tests
Molecular Genetic Studies
oculocutaneous albinism type 2 and Molecular Genetic Studies
Biopsy skin
oculocutaneous albinism type 2 and Biopsy skin
Visual evoked potential (VEP)
oculocutaneous albinism type 2 and Visual evoked potential (VEP)
Comprehensive eye exam
oculocutaneous albinism type 2 and Comprehensive eye exam
therapeutic procedures for 'oculocutaneous albinism type 2'?
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 2:
therapeutic procedure search results for 'oculocutaneous albinism type 2'
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Strabismus surgery
oculocutaneous albinism type 2 and Strabismus surgery
Sun protection
oculocutaneous albinism type 2 and Sun protection
sunglasses
oculocutaneous albinism type 2 and sunglasses
Eyeglasses
oculocutaneous albinism type 2 and Eyeglasses
special filter glasses
oculocutaneous albinism type 2 and special filter glasses
prismatic eyeglasses
oculocutaneous albinism type 2 and prismatic eyeglasses
eye surgery
oculocutaneous albinism type 2 and eye surgery
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medications search results for 'oculocutaneous albinism type 2'
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web search results for oculocutaneous albinism type 2
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- oculocutaneous albinism type 2
Oculocutaneous albinism - Genetics Home Reference
... can change the appearance of people with oculocutaneous albinism type 2. This ... of the usual features of oculocutaneous albinism type 2, including light-colored ...
http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism
ghr.nlm.nih.gov
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Albinism, oculocutaneous - Yahoo! Health
... that the main title of the report Albinism, oculocutaneous is not the name you expected. Please check ... type 1B. Oculocutaneous albinism type 2 ...
http://health.yahoo.com/skinconditions-overview/albinism/healthwise--nord42.html
health.yahoo.com
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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) ... classic phenotype of oculocutaneous albinism type 2 (OCA2) in all ...
http://www.ncbi.nlm.nih.gov/pubmed/12876664
www.ncbi.nlm.nih.gov
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Oculocutaneous albinism - References - Genetics Home Reference
... P genes, oculocutaneous albinism type 2 (OCA2), and ... 2001 Apr;14(2):86-93. Review. PubMed citation. Gene Review: Oculocutaneous Albinism Type 1 ...
http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism/show/References
ghr.nlm.nih.gov
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Oculocutaneous albinism - Wikipedia, the free encyclopedia
Oculocutaneous albinism". Orphanet J Rare Dis 2: 43. doi:10.1186 ... Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria ...
http://en.wikipedia.org/wiki/Oculocutaneous_albinism
en.wikipedia.org
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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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OCA2 - oculocutaneous albinism II - Genetics Home Reference
... identified in people with oculocutaneous albinism type 2. People with this form ... Oculocutaneous albinism type 2 also has been found in a small number of people ...
http://ghr.nlm.nih.gov/gene=oca2
ghr.nlm.nih.gov
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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 2. Gene Reviews. ...
http://www.mayoclinic.com/health/albinism/DS00941
www.mayoclinic.com
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Oculocutaneous Albinism Type 1 -- GeneReviews -- NCBI Bookshelf
Oculocutaneous albinism type 1 (OCA1) is characterized by reduced synthesis of ... in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1
www.ncbi.nlm.nih.gov
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Ocular albinism type 1 - Wikipedia, the free encyclopedia
Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA) ... Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria ...
http://en.wikipedia.org/wiki/Ocular_albinism_type_1
en.wikipedia.org
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Albinism: Causes - MayoClinic.com
Oculocutaneous albinism 2 is caused by a mutation in a gene on chromosome 15. ... King RA, et al. Oculocutaneous albinism type 2. Gene Reviews. ...
http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes
www.mayoclinic.com
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Oculocutaneous Albinism Type 4 -- GeneReviews -- NCBI Bookshelf
Oculocutaneous albinism type 4 (OCA4) is characterized by ... SOLUTE CARRIER FAMILY 45, MEMBER 2; SLC45A2. 606574. OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4 ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4
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. Type 2 albinism is due to a defect in the "P" gene. ...
http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm
www.nlm.nih.gov
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OCA2 - Wikipedia, the free encyclopedia
Certain mutations in OCA2 result in type 2 oculocutaneous albinism.[1] ... and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ...
http://en.wikipedia.org/wiki/OCA2
en.wikipedia.org
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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. ... OCA1 was the most frequent type at 34%, while type 2 was present at less than 10 ...
http://www.ncbi.nlm.nih.gov/pubmed/18407468?ordinalpos=16&it...
www.ncbi.nlm.nih.gov
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Molecular analysis of type I-A (tyrosinase negative) oculocutaneous ...
Type I oculocutaneous albinism (OCA) is caused by the reduction in or absence of ... Two clusters involve the copper A and copper B binding sites and may disrupt the ...
http://www.ncbi.nlm.nih.gov/pubmed/1487241
www.ncbi.nlm.nih.gov
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Oculocutaneous Albinism Type 1
Oculocutaneous albinism type 1 (OCA1) is characterized by reduced ... Page 2. GeneReviews: Oculocutaneous Albinism Type 1. GeneReviews. GeneReviews. GeneReviews ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Glutaric acidemia type 2 - Wikipedia, the free encyclopedia
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is ... Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak ...
http://en.wikipedia.org/wiki/Glutaric_acidemia_type_2
en.wikipedia.org
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MC1R - melanocortin 1 receptor (alpha melanocyte stimulating hormone ...
... appearance of people with oculocutaneous albinism type 2. This form of albinism, ... 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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OCA2 - NextBio
null: This gene encodes the human homologue of the mouse p (pink-eyed ... Mutations in OCA2 result in type 2 oculocutaneous albinism. view more " Gene OCA2 ...
http://www.nextbio.com/b/home/home.nb?id=19061&type=feature
www.nextbio.com
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The etiology of oculocutaneous albinism (OCA) type II: the pink protein ...
Oculocutaneous albinism (OCA) is caused by reduced or deficient melanin ... OCA type 2 (OCA2), the most common form of OCA, is an autosomal recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/12028586
www.ncbi.nlm.nih.gov
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Search Results - Genetics Home Reference
... people with oculocutaneous albinism type 2. This form of albinism, which is ... 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
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SLC45A2 variations in Indian oculocutaneous albinism patients.
... carrier family 45, member 2 gene (SLC45A2, also called ... 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
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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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OCA2 - References - Genetics Home Reference
... and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ... (2):180-3. PubMed citation. Gene Review: Oculocutaneous Albinism Type 2 ...
http://ghr.nlm.nih.gov/gene=oca2/show/References
ghr.nlm.nih.gov
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Mislocalization of melanosomal proteins in melanocytes from mice with ...
... melanocytes from mice with oculocutaneous albinism type 2. ... The most common form, oculocutaneous albinism type 2, results from mutations at the p locus. ...
http://www.ncbi.nlm.nih.gov/pubmed/11384158?dopt=Citation
www.ncbi.nlm.nih.gov
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OCA2 - NextBio
OCA2: This gene encodes the human homologue of the mouse p (pink-eyed ... Mutations in OCA2 result in type 2 oculocutaneous albinism. view more " Gene OCA2 ...
http://www.nextbio.com/b/home/home.nb?q=OCA2
www.nextbio.com
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The mouse p (pink-eyed dilution) and human P genes, oculocutaneous ...
... and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. ... Humans lacking a functional P protein have oculocutaneous albinism type 2 (OCA2) ...
http://www.ncbi.nlm.nih.gov/pubmed/11310796
www.ncbi.nlm.nih.gov
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Genomics|HuGENet|Fact sheets
IRS-1 Gene and Insulin Resistance in Type 2 Diabetes. Andy Katsiaras ... TYRP1 and Oculocutaneous Albinism Type 3. Lisa Myers ...
http://www.cdc.gov/genomics/hugenet/factsheets.htm
www.cdc.gov
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MC1R - References - Genetics Home Reference
... mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. ... Jul 28;313(5786):521-2. Epub 2006 Jun 29. PubMed ...
http://ghr.nlm.nih.gov/gene=mc1r/show/References
ghr.nlm.nih.gov
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Hermansky-Pudlak Syndrome -- GeneReviews -- NCBI Bookshelf
Oculocutaneous albinism type 2 (OCA2) is caused by mutations in the OCA2 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 2 (OCA2) is caused by mutations in the OCA2 gene ... syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa
www.ncbi.nlm.nih.gov
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12713581
... gene mutations and oculocutaneous albinism type 2 frequency in Japanese ... 781-3 Type 2 oculocutaneous albinism (OCA2) is an autosomal recessive disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/12713581
www.ncbi.nlm.nih.gov
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Eyes and vision - Genetics Home Reference
oculocutaneous albinism. Oculocutaneous albinism with leukocyte ... spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision
ghr.nlm.nih.gov
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The oculocutaneous albinism type IV gene Matp is a new marker of ...
2002 Aug;116(1-2):209-12. The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell ... in man (Oculocutaneous Albinism Type 4, OCA4) (Nat. ...
http://www.ncbi.nlm.nih.gov/pubmed/12128226?dopt=Citation
www.ncbi.nlm.nih.gov
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SLC45A2 - NextBio
... are a cause of oculocutaneous albinism type 4. Alternative splicing results in ... "previous 1 2 3 4 ... 56 next" show: 10 20 50 100 results. search result ...
http://www.nextbio.com/b/home/home.nb?q=SLC45A2
www.nextbio.com
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203200
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203200
www.ncbi.nlm.nih.gov
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Normal tyrosine transport and abnormal tyrosinase routing in pink-eyed ...
... oculocutaneous albinism type 2. Although the molecular mechanisms which underlie ... Albinism, Oculocutaneous/genetics. Animals. Biological Transport ...
http://www.ncbi.nlm.nih.gov/pubmed/9770375?dopt=Citation
www.ncbi.nlm.nih.gov
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Tyrosinemia type II - Wikipedia, the free encyclopedia
Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia ... Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak ...
http://en.wikipedia.org/wiki/Type_II_tyrosinemia
en.wikipedia.org
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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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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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OMIM Update List for November, 2003
203100 OCULOCUTANEOUS ALBINISM, TYPE I; OCA1 ... 214500 CHEDIAK-HIGASHI SYNDROME; CHS. 300500 ALBINISM, OCULAR, TYPE I; OA1. 600185 BREAST CANCER 2 GENE; BRCA2 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2003
www.ncbi.nlm.nih.gov
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OMIM Update List for September, 2007
124080 CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2; CYP11B2 ... 606574 OCULOCUTANEOUS ALBINISM, TYPE IV; OCA4 ... 606952 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?9.2007
www.ncbi.nlm.nih.gov
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2-Methylbutyryl-CoA dehydrogenase deficiency - Wikipedia, the free ...
Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia ... Melanin: Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky ...
http://en.wikipedia.org/wiki/2-Methylbutyryl-CoA_dehydrogenase_deficiency
en.wikipedia.org
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SLC45A2(1A1) - NextBio
... are a cause of oculocutaneous albinism type 4. Alternative splicing results in ... "previous 1 2 3 4 ... 57 next" show: 10 20 50 100 results. search result ...
http://www.nextbio.com/b/home/home.nb?q=1A1
www.nextbio.com
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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
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SLC45A2 - Wikipedia, the free encyclopedia
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. ... 11A1 · 11A2 · 11A3 · 12A1-2 · 12A3 · 12A4 · 12A5 · 12A6 ...
http://en.wikipedia.org/wiki/SLC45A2
en.wikipedia.org
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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
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AceView: gene:TYR, a comprehensive annotation of human, mouse and worm ...
Transcription produces 3 different mRNAs, 2 alternatively spliced variants and 1 ... 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
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OMIM Update List for May, 2006
203290 OCULOCUTANEOUS ALBINISM, TYPE III; OCA3. 227810 FANCONI-BICKEL SYNDROME; FBS ... 607751 TASTE RECEPTOR, TYPE 2, MEMBER 38; TAS2R38 ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?5.2006
www.ncbi.nlm.nih.gov
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