{"Name":"Oculocutaneous albinism type 3","DiseaseID__c":"GARD:0004039","id":4039,"encodedName":"oculocutaneous-albinism-type-3","IsDeleted":false,"Disease_Name_Full__c":"Oculocutaneous albinism type 3","Xref_IDs__c":"63450009; C0342683; C537731; DOID:0070097; MEDGEN:87450; MONDO:0008747; OMIM:203290; ORPHA:79433","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008747","Disease_Description__c":"A form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.","GARD_Name__c":"Oculocutaneous albinism type 3","GARD_Synonym__c":"albinism iii; albinism, oculocutaneous, type iii; oca3; oculocutaneous albinism caused by mutation in tyrp1; red oculocutaneous albinism; red-skin albinism; rufous albinism; rufous oca; rufous oculocutaneous albinism; tyrp1 oculocutaneous albinism; xanthism; xanthous oculocutaneous albinism","Curated_Disease_Description_Source__c":"MEDGEN:C0342683","Curated_Disease_Description__c":"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. 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); 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 a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have 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 with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:79433","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008747","ORPHANET_ID__c":"ORPHA:79433","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Albinismo oculocutáneo tipo 3","Spanish_Description_Source__c":"ORPHA:79433","Spanish_Description__c":"Es una forma de albinismo oculocutáneo (OCA) caracterizado por una pigmentación rojiza o marrón, que afecta principalmente a la población africana.","Spanish_Disease_Name__c":"albinismo oculocutáneo tipo 3","Spanish_GARD_Synonym__c":"albinismo oculocutáneo de rufous; albinismo oculocutáneo rojo; albinismo oculocutáneo xanthous; oca3","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 coloring (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); 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 a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have 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 with type 2.Several additional types of this disorder have been proposed, each affecting one or a few families.","Curated_Disease_Description_Source__c":"MEDGEN:C0342683","GARD_Synonym__c":"albinism iii; albinism, oculocutaneous, type iii; oca3; oculocutaneous albinism caused by mutation in tyrp1; red oculocutaneous albinism; red-skin albinism; rufous albinism; rufous oca; rufous oculocutaneous albinism; tyrp1 oculocutaneous albinism; xanthism; xanthous oculocutaneous albinism","Name":"Oculocutaneous albinism type 3","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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:79433"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79433"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0342683"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004039","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590568","Source__c":"Gene Review","Xref__c":"NBK590568"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342683","Source__c":"C0342683","Xref__c":"C0342683"},{"URL__c":"https://www.omim.org/entry/203290","Source__c":"C0342683; MONDO:0008747; ORPHA:79433","Xref__c":"OMIM:203290"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63450009","Source__c":"C0342683; MONDO:0008747","Xref__c":"63450009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070097","Source__c":"MONDO:0008747","Xref__c":"DOID:0070097"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87450","Source__c":"C0342683","Xref__c":"MEDGEN:87450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537731","Source__c":"MONDO:0008747","Xref__c":"C537731"},{"URL__c":"https://www.orpha.net/en/disease/detail/79433","Source__c":"C0342683; MONDO:0008747; ORPHA:79433","Xref__c":"ORPHA:79433"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008747","Source__c":"GARD:0004039","Xref__c":"MONDO:0008747"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TYRP1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tyrp1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002227","HPO_Synonym__c":"Blonde eyelashes; Depigmented eyelashes; Pale eyelashes; White eyelashes","HPO_Name__c":"White eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"White color (lack of pigmentation) of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002226","HPO_Synonym__c":"Depigmented eyebrow; Hypopigmented eyebrow; Pale eyebrow; White eyebrow","HPO_Name__c":"White eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A markedly blue coloration of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000635","HPO_Synonym__c":"Blue eyes","HPO_Name__c":"Blue irides","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025551","HPO_Synonym__c":"Optic pathway misrouting; Visual pathway misrouting","HPO_Name__c":"Optic nerve misrouting","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of skin pigmentation (coloring).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200098","HPO_Synonym__c":"Absent skin pigmentation; Lack of skin coloration","HPO_Name__c":"Absent skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002297","HPO_Synonym__c":"Red hair; Red hair color; Red head (hair color)","HPO_Name__c":"Red hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced pigmentation of hair diffusely.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011358","HPO_Name__c":"Generalized hypopigmentation of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100814","HPO_Name__c":"Blue nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79433","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in the amount of pigmentation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007730","HPO_Synonym__c":"Light eye color; Reduced iris pigmentation","HPO_Name__c":"Iris hypopigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["albinism iii"," albinism, oculocutaneous, type iii"," oca3"," oculocutaneous albinism caused by mutation in tyrp1"," red oculocutaneous albinism"," red-skin albinism"," rufous albinism"," rufous oca"," rufous oculocutaneous albinism"," tyrp1 oculocutaneous albinism"," xanthism"," xanthous oculocutaneous albinism"]}