ocular albinism

human disease

DBpedia resource is: http://dbpedia.org/resource/Ocular_albinism

Abstract is: Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar. Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.

ocular albinism is …
instance of (P31):
class of diseaseQ112193867

sublass of (P279):
diseaseQ12136
eye diseaseQ3041498
albinismQ81867

External links are
P699Disease Ontology IDDOID:0050633
P1417Encyclopædia Britannica Online IDtopic/ocular-albinism
P2888exact matchhttp://identifiers.org/doid/DOID:0050633
http://purl.obolibrary.org/obo/DOID_0050633
P7464Genetics Home Reference Conditions IDocular-albinism
P494ICD-10E70.3
P7807ICD-11 (foundation)1147926040
P493ICD-9 ID270.2
P3827JSTOR topic IDocular-albinism
P665KEGG IDH00169
P486MeSH descriptor IDD016117
P672MeSH tree codeC11.270.040.090
C16.320.290.040.090
C16.320.565.100.102.090
C16.320.850.080.090
C17.800.621.440.102.090
C17.800.827.080.090
C18.452.648.100.102.090
P6366Microsoft Academic ID2779242213
P492OMIM ID300500
300500
P1550Orphanet ID284804
P2892UMLS CUIC0078917
P11143WikiProjectMed IDOcular albinism

P1995health specialtyendocrinologyQ162606
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

subclass of (P279)
Q2017756ocular albinism type 1
Q9190381ocular albinism type 2
Q50357711ocular albinism with sensorineural deafness

main subject (P921)
Q34759824A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients
Q91351345A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1
Q86646793A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient
Q34391379A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism
Q44692328A novel splicing site mutation of the GPR143 gene in a Chinese X-linked ocular albinism pedigree.
Q57251945A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1)
Q33994293Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.
Q35593350Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene.
Q46165980Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography
Q52058110Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
Q46603658Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer
Q24678018An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry
Q24514987Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism
Q28279270Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
Q55670369Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
Q24312930Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism
Q67375360Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males
Q38654423Brown's syndrome with ocular albinism: Case report of a rare presentation and literature review
Q76551610CARRIERS OF OCULAR ALBINISM WITH AND WITHOUT OCULAR CHANGES
Q26866932Cardiovascular actions of DOPA mediated by the gene product of ocular albinism 1
Q37307770Carrier detection in X linked ocular albinism using linked DNA polymorphisms
Q67515431Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis
Q41594945Carrier state in X-linked ocular albinism: a proof of the validity of Lyon's hypothesis in man
Q45007529Carrier stigmata of ocular albinism in 3 generations of a Serbian family
Q54386220Case of Japanese patient with x-linked ocular albinism associated with GPR143 gene mutation.
Q50616500Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Q57728831Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)
Q92816663Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism
Q24324130Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
Q24324227Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
Q48060444Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells
Q73110614Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca
Q53081396Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.
Q70867972Congenital nystagmus and ocular albinism
Q36293656Deep intronic GPR143 mutation in a Japanese family with ocular albinism
Q28140288Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1
Q57251956Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus
Q51829948Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
Q44103043Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol
Q91323150Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism
Q28201927Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
Q67880385Dyschromatosis universalis with X-linked ocular albinism
Q35322535Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus
Q21093331Eight previously unidentified mutations found in the OA1 ocular albinism gene
Q74149487Electronystagmographic investigation in X-linked ocular albinism
Q84950803Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
Q48369793Expression of ocular albinism 1 (OA1), 3, 4- dihydroxy- L-phenylalanine (DOPA) receptor, in both neuronal and non-neuronal organs
Q38306272Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium.
Q48565629Failed Pneumatic Retinopexy for Rhegmatogenous Retinal Detachment Repair in Ocular Albinism: Clues to the Role of Melanin in Retinal Pigment Epithelium Pump Function.
Q71263506Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism
Q69013616Fundal findings in a female carrier of X-linked ocular albinism
Q33674649GPR143 mutations in Chinese patients with ocular albinism type 1.
Q90250300Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
Q58020533Genetic Mapping of X-Linked Ocular Albinism: Linkage Analysis in a Large Newfoundland Kindred
Q67576117Genetic counselling in X-linked ocular albinism: clinical features of the carrier state
Q33594329Genetic mapping of X linked ocular albinism: linkage analysis in British families
Q33595981Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci
Q46016080Genetic studies of ocular albinism in a large Virginia kindred.
Q44974429Hypoplastic corpus callosum in ocular albinism: indication of a global disturbance of neuronal migration
Q33828380Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism
Q90568717Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability
Q83146073Identification of a novel mutation in a Chinese family with X-linked ocular albinism
Q81724008Images in clinical medicine. Horizontal pendular nystagmus in a patient with ocular albinism
Q50484752Interaction between G Protein-Coupled Receptor 143 and Tyrosinase: Implications for Understanding Ocular Albinism Type 1.
Q43549011Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis
Q34311289Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS).
Q70902001Inversion of direction-selectivity to anterior fields in neurons of nucleus of the optic tract in rabbits with ocular albinism
Q84244568Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation
Q69959891Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento
Q36832808Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.
Q68666207Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis
Q71240112Macromelanosomes in X-linked ocular albinism
Q69380906Macromelanosomes in X-linked ocular albinism (XLOA)
Q87289726Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism
Q35231217Measurable linkage between ocular albinism and Xg.
Q48615691Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation.
Q68328468Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type
Q28187881Mutational analysis of the OA1 gene in ocular albinism
Q24337149Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
Q69672143Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report
Q28215706New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
Q63383619New mutations identified in the ocular albinism type 1 gene
Q73417262Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome
Q89287901Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism
Q24538852OA1 mutations and deletions in X-linked ocular albinism
Q76969145OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY
Q61409124Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.
Q91637800Ocular Albinism Type 1 Regulates Deltamethrin Tolerance in Lymantria dispar and Drosophila melanogaster
Q37377153Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes.
Q94994924Ocular Albinism, X-Linked
Q46695855Ocular albinism 1 protein: trafficking and function when expressed in Saccharomyces cerevisiae
Q70110409Ocular albinism and Xg
Q93701721Ocular albinism and Xg
Q53856900Ocular albinism and Xg.
Q46634669Ocular albinism and hypopigmentation defects in Slc24a5-/- mice.
Q70616858Ocular albinism in Newfoundland
Q70390668Ocular albinism in a female
Q44581959Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?
Q39003738Ocular albinism type 1-induced melanoma cell migration is mediated through the RAS/RAF/MEK/ERK signaling pathway
Q34363477Ocular albinism type 1: more than meets the eye.
Q43223598Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision
Q64078249Ocular albinism with bilateral ocular coloboma - A rare association
Q34247404Ocular albinism with changes typical of carriers
Q50575532Ocular albinism with changes typical of conductors in a Danish family.
Q91221806Ocular albinism with infertility and late-onset sensorineural hearing loss
Q92134379Ocular albinism with mutation in GPR143: Findings in wide-field autofluorescence and optical coherence tomography
Q79396470Ocular albinism with report of a family with female carriers
Q37306650Ocular albinism with unilateral sectorial pigmentation in the fundus
Q22010509Ocular albinism: evidence for a defect in an intracellular signal transduction system
Q79571465On recognizability of latent conductors of universal albinism and of ocular albinism
Q90671022Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
Q54044059Partial ocular albinism in Mystromys albicaudatus (African white-tailed rat)
Q70342388Partial ocular albinism in Mystromys albicaudatus (the African white-tailed rat). An electron microscopic study
Q43094832Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene
Q35889689Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes
Q91232361Recovery of stereopsis after strabismus surgery in X-linked ocular albinism
Q70694605Refinement of the localization of the X-linked ocular albinism gene
Q50741145Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.
Q99207461Retinal Vasoproliferative Tumor in Ocular Albinism
Q46362734Retinal function in X-linked ocular albinism (OA1).
Q41993733Role of ocular albinism type 1 (OA1) GPCR in Asian gypsy moth development and transcriptional expression of heat-shock protein genes
Q28244344Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC
Q75714746Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote
Q68428753Studies of X-linked recessive ocular albinism of the Nettleship-Falls type--with special reference to the association of megalocornea
Q64933829Successful treatment of aggressive posterior retinopathy of prematurity with diode laser in ocular albinism: A case report.
Q83326968The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
Q28262213The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions
Q24564241The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis
Q73445493The mouse ocular albinism 1 gene product is an endolysosomal protein
Q24311263The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition
Q35123182The ocular albinism type 1 (OA1) GPCR is ubiquitinated and its traffic requires endosomal sorting complex responsible for transport (ESCRT) function
Q47360377The ocular albinism type 1 (OA1) gene controls melanosome maturation and size
Q36200459The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis
Q37384037The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes
Q40759297The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution
Q36376328The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times
Q28589486The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
Q52757461The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells.
Q41895369The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii
Q73294051Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism
Q38223035Visual electrophysiology in the clinical evaluation of optic neuritis, chiasmal tumours, achiasmia, and ocular albinism: an overview
Q37310697X linked ocular albinism in Japanese patients
Q33587078X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness
Q81642705X-Linked ocular albinism; Nettleship-Falls ocular albinism
Q74286668X-chromosomal ocular albinism in a Dutch family
Q90712483X-linked Ocular Albinism
Q50586006X-linked inheritance of ocular albinism with late-onset sensorineural deafness.
Q70745640X-linked ocular albinism
Q57251893X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1
Q34348179X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.
Q41784452X-linked ocular albinism in Blacks. Ocular albinism cum pigmento
Q41634920X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism
Q73570089X-linked ocular albinism: fundus of a heterozygous female
Q91968321X-linked ocular albinism: mapping and cloning the gene
Q28293726X-linked ocular albinism: prevalence and mutations--a national study
Q70969667X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers
Q70258305[A Japanese family of Nettleship Falls X-linked ocular albinism]
Q69434937[A case of Prader-Willi syndrome with tubular acidosis and partial ocular albinism]
Q70983692[Atypical form of ocular albinism with a disorder of color perception]
Q73444451[Detectibility of latent carriers of total and ocular albinism]
Q73380893[Electrophysiology in the differential diagnosis between sex-linked ocular albinism and central nystagmus]
Q74279487[Enophthalmic familial abductor parakinesis in twins and a case of ocular albinism in another family]
Q71471514[Iris transillumination in the heterozygote detection of universal albinism and female ocular albinism transmitters]
Q68399108[Ocular albinism and dyschromatopsia]
Q79185554[Ocular albinism in pediatric patients with nystagmus]
Q73176372[Relation of ocular albinism to sex and the characteristic changes in the fundus oculi in heterozygous women]
Q50890754[Sea-blue histiocyte syndrome associated with chronic hepatitis B and ocular albinism]
Q73368825[Sex-linked ocular albinism and characteristic changes of the eye fundus in heterozygotic women]
Q79200837[Sex-linked ocular albinism in the frame of detection of heterozygotes in ophthalmology.]
Q71630747[The stigmatism of ocular albinism and congenital blindness of Leber. Clinical report]

Q108572330Amy Kavanaghmedical conditionP1050

The articles in Wikimedia projects and languages

Arabic (ar / Q13955)مهق عينيwikipedia
      Očni albinizamwikipedia
      Ocular albinismwikipedia
      Albinismo ocular ligado al cromosoma Xwikipedia
Persian (fa / Q9168)آلبینیسم چشمیwikipedia
      Albinisme oculaire récessif lié au chromosome Xwikipedia
      Albinismo ocularwikipedia
      Albinism ocularwikipedia

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