{"Name":"Oculocutaneous albinism","DiseaseID__c":"GARD:0010958","id":10958,"encodedName":"oculocutaneous-albinism","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism","Xref_IDs__c":"63844009; C0078918; C84941; D016115; DOID:0050632; E70.32; MEDGEN:36250; MONDO:0018910; OMIMPS:203100; ORPHA:55","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018910","Disease_Description__c":"A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.","GARD_Name__c":"Oculocutaneous albinism","GARD_Synonym__c":"albinismus totalis; albinismus universalis; complete perfect albinism; complete universal albinism; non-syndromic oculocutaneous albinism; nonsyndromic oculocutaneous albinism; oca; oca - oculocutaneous albinism; total albinism","Curated_Disease_Description_Source__c":"GARD:0010958","Curated_Disease_Description__c":"Oculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition.  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); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2. There are several additional, rare types of oculocutaneous albinism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:55","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018910","ORPHANET_ID__c":"ORPHA:55","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculo-cutáneo","Spanish_Description_Source__c":"ORPHA:55","Spanish_Description__c":"Es un grupo de trastornos de hipopigmentación de origen genético y poco frecuentes caracterizados por una disminución generalizada de la pigmentación del cabello, la piel y los ojos, así como hallazgos oculares variables, incluyendo nistagmo, disminución de la agudeza visual y fotofobia. Las variantes incluyen OCA1A (la forma más grave), OCA1B, OCA1 con pigmentación mínima (OCA1-MP), OCA1 sensible a la temperatura (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 y OCA8.","Spanish_Disease_Name__c":"albinismo oculo-cutáneo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Oculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition.  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); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia). Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2. There are several additional, rare types of oculocutaneous albinism.","Curated_Disease_Description_Source__c":"GARD:0010958","GARD_Synonym__c":"albinismus totalis; albinismus universalis; complete perfect albinism; complete universal albinism; non-syndromic oculocutaneous albinism; nonsyndromic oculocutaneous albinism; oca; oca - oculocutaneous albinism; total albinism","Name":"Oculocutaneous albinism","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Albinism Fellowship","Website__c":"https://www.albinism.org.uk/"},{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"The National Organization of Albinism and Hypopigmentation (NOAH)","Website__c":"https://www.albinism.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:55"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0078918"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84941","Source__c":"C0078918; MONDO:0018910","Xref__c":"C84941"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050632","Source__c":"MONDO:0018910","Xref__c":"DOID:0050632"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0078918","Source__c":"C0078918","Xref__c":"C0078918"},{"URL__c":"https://www.orpha.net/en/disease/detail/55","Source__c":"C0078918; MONDO:0018910; ORPHA:55","Xref__c":"ORPHA:55"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=36250","Source__c":"C0078918","Xref__c":"MEDGEN:36250"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS203100","Source__c":"MONDO:0018910","Xref__c":"OMIMPS:203100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C016115","Source__c":"C0078918; MONDO:0018910","Xref__c":"D016115"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63844009","Source__c":"C0078918; MONDO:0018910","Xref__c":"63844009"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E70.32","Source__c":"MONDO:0018910","Xref__c":"E70.32"},{"URL__c":"https://medlineplus.gov/genetics/condition/oculocutaneous-albinism","Source__c":"GARD:0010958","Xref__c":"https://medlineplus.gov/genetics/condition/oculocutaneous-albinism"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018910","Source__c":"GARD:0010958","Xref__c":"MONDO:0018910"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinismus totalis"," albinismus universalis"," complete perfect albinism"," complete universal albinism"," non-syndromic oculocutaneous albinism"," nonsyndromic oculocutaneous albinism"," oca"," oca - oculocutaneous albinism"," total albinism"]}