About: Oculocutaneous albinism

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An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
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Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAminoAcidMetabolismDisorders yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	Albinisme oculocutané (fr) Oculocutaneous albinism (en)
rdfs:comment	Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. (en) L'albinisme oculocutané comprend un ensemble de maladies génétiques de transmission autosomique récessive ayant comme point commun une anomalie de la synthèse de la mélanine atteignant soit l'œil soit la peau soit les deux et s'accompagnant ou pas de troubles associés. Les maladies entrant dans ce cadre sont : * Albinisme oculocutané type I * Albinisme oculocutané de type II * * * Syndrome de Hermansky-Pudlak (fr)
dcterms:subject	Autosomal recessive disorders Amino acid metabolism disorders Albinism
Wikipage page ID	3572371 (xsd:integer)
Wikipage revision ID	1064880574 (xsd:integer)
Link from a Wikipage to another Wikipage	List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer Mutation Membrane-associated transporter protein Lithuania OCA2 Nystagmus Siamese (cat) Melanin Melanocyte Genetic testing Open reading frame SLC45A2 Gene Autosomal recessive disorders Piebaldism Point (coat color) Autosomal recessive SLC24A5 Amish Faroe Islands Freckles Amino acid metabolism disorders Hair Heterogeneous Hypoplasia Albinism Albinism Biosynthesis Phenotype Human eye Human skin New Guinea Optic chiasm Candidate gene Mole (skin marking) Tyrosinase List of skin conditions Photophobia MC1R Foveal TYRP1 OMIM dbr:Wikt:cutaneous dbr:C10orf11 dbr:Wikt:oculo-
Link from a Wikipage to an external page	http://rarediseases.org/rare-diseases/oculocutaneous-albinism/ https://www.ncbi.nlm.nih.gov/gtr/all/tests/%3Fterm=albinism/
sameAs	Oculocutaneous albinism Oculocutaneous albinism Oculocutaneous albinism Oculocutaneous albinism Oculocutaneous albinism
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Rp dbt:Short_description dbt:Use_dmy_dates dbt:OMIM dbt:ICD10CM dbt:Amino_acid_metabolic_pathology dbt:Pigmentation_disorders
ICD	270.200000 (xsd:double) (en) E70.3 (en)
MeshID	D016115 (en)
OMIM	203100 (xsd:integer)
Orphanet	55 (xsd:integer)
synonyms	OCA (en)
has abstract	Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. (en) L'albinisme oculocutané comprend un ensemble de maladies génétiques de transmission autosomique récessive ayant comme point commun une anomalie de la synthèse de la mélanine atteignant soit l'œil soit la peau soit les deux et s'accompagnant ou pas de troubles associés. Les maladies entrant dans ce cadre sont : * Albinisme oculocutané type I * Albinisme oculocutané de type II * * * Syndrome de Hermansky-Pudlak (fr)
GeneReviewsName	Oculocutaneous Albinism Type 1 (en)
GeneReviewsNBK	NBK1166 (en)
geneReviewsId	NBK1166
geneReviewsName	Oculocutaneous Albinism Type 1 (en)

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