{"Name":"Stargardt disease","DiseaseID__c":"GARD:0000181","id":181,"encodedName":"stargardt-disease","IsDeleted":false,"Disease_Name_Full__c":"Stargardt disease","Xref_IDs__c":"47673003; C0271093; C85078; D000080362; DOID:0050817; MEDGEN:75734; MONDO:0019353; OMIMPS:248200; ORPHA:827","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":3,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0019353","Disease_Description__c":"A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.","GARD_Name__c":"Stargardt disease","GARD_Synonym__c":"familial juvenile macular degeneration syndrome; ffm; ffm - fundus flavimaculatus; fundus flavimaculatus; stargardt 1; stargardt disease, autosomal recessive; stargardt's disease","Curated_Disease_Description_Source__c":"GARD:0000181","Curated_Disease_Description__c":"Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:827","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019353","ORPHANET_ID__c":"ORPHA:827","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de stargardt","Spanish_Description_Source__c":"ORPHA:827","Spanish_Description__c":"Es un trastorno oftálmico poco frecuente que, por lo general, está caracterizado por una pérdida progresiva de la visión central asociada a un moteado macular y perimacular irregular blanco-amarillento que se aprecia en el fondo de ojo, y una lesión macular central atrófica con apariencia de \"bronce golpeado\".","Spanish_Disease_Name__c":"enfermedad de stargardt","Spanish_GARD_Synonym__c":"fundus flavimaculatus; stargardt 1","Category_Linearization__c":"ORPHA:97966","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":"Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for the type of vision needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment called lipofuscin builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear vision. People with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.","Curated_Disease_Description_Source__c":"GARD:0000181","GARD_Synonym__c":"familial juvenile macular degeneration syndrome; ffm; ffm - fundus flavimaculatus; fundus flavimaculatus; stargardt 1; stargardt disease, autosomal recessive; stargardt's disease","Name":"Stargardt disease","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"},{"Account_Name__c":"Prevent Blindness America","Website__c":"https://preventblindness.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"American Macular Degeneration Foundation","Website__c":"https://www.macular.org/"},{"Account_Name__c":"Macular Degeneration Foundation","Website__c":"https://eyesight.org/"},{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"},{"Account_Name__c":"BrightFocus Foundation","Website__c":"https://www.brightfocus.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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:827"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:827"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:827"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:827"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0271093"},{"Type__c":"GTR","Curie__c":"MEDGEN:C1855465"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000181","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85078","Source__c":"C0271093; MONDO:0019353","Xref__c":"C85078"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271093","Source__c":"C0271093","Xref__c":"C0271093"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75734","Source__c":"C0271093","Xref__c":"MEDGEN:75734"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=47673003","Source__c":"C0271093; MONDO:0019353","Xref__c":"47673003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000080362","Source__c":"C0271093; MONDO:0019353","Xref__c":"D000080362"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050817","Source__c":"MONDO:0019353","Xref__c":"DOID:0050817"},{"URL__c":"https://www.orpha.net/en/disease/detail/827","Source__c":"C0271093; MONDO:0019353; ORPHA:827","Xref__c":"ORPHA:827"},{"URL__c":"https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration","Source__c":"GARD:0000181","Xref__c":"https://medlineplus.gov/genetics/condition/stargardt-macular-degeneration"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019353","Source__c":"GARD:0000181","Xref__c":"MONDO:0019353"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=70099003","Source__c":"C0271093","Xref__c":"70099003"},{"URL__c":"https://www.fda.gov/media/165186/download?attachment"},{"URL__c":"https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/stargardt-disease"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS248200","Source__c":"MONDO:0019353","Xref__c":"OMIMPS:248200"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PROM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ABCA4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abca4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ELOVL4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/elovl4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sudden-onset episode of abnormal, involuntary eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007704","HPO_Synonym__c":"Abnormal eye movements, paroxysmal","HPO_Name__c":"Paroxysmal involuntary eye movements","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Perceived flashes of light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030786","HPO_Name__c":"Photopsia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000493","HPO_Synonym__c":"Abnormality of the fovea","HPO_Name__c":"Abnormal foveal morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008059","HPO_Synonym__c":"Absent/underdeveloped macula","HPO_Name__c":"Aplasia/Hypoplasia of the macula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007722","HPO_Name__c":"Retinal pigment epithelial atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000649","HPO_Synonym__c":"Abnormal vision evoked potentials; Abnormal visual evoked potential; Abnormal visual evoked responses; Abnormal visual-evoked potentials; VEP abnormalities","HPO_Name__c":"Abnormality of visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030329","HPO_Synonym__c":"Retinal thinning","HPO_Name__c":"Retinal thinning on OCT","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of white and/or yellow lesion located anywhere within the macula. These lesions can be flat or raised and can vary in size from very small to bigger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030500","HPO_Synonym__c":"Yellow/white lesion of the macula","HPO_Name__c":"Yellow/white macular lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An area of depressed vision located at the point of fixation and that interferes with central vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000603","HPO_Synonym__c":"Central blind spot; Central scotomata","HPO_Name__c":"Central scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal, uniform distribution or appearance of pigment within the macular region of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008002","HPO_Synonym__c":"Abnormality of macular pigmentation","HPO_Name__c":"Abnormal macular pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000610","HPO_Synonym__c":"Abnormality of the choroid","HPO_Name__c":"Abnormal choroid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:827","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mottling (spots or blotches of different shades) of the retinal pigment epithelium, i.e., localized or generalized fundus pigment granularity associated with processes at the level of the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007814","HPO_Synonym__c":"Focal hypopigmentation of the retinal pigment epithelium; Retinal pigment epithelium irregularity; RPE irregularity; RPE mottling; Salt and pepper retinal pigmentation; Salt and pepper retinopathy","HPO_Name__c":"Retinal pigment epithelial mottling","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["familial juvenile macular degeneration syndrome"," ffm"," ffm - fundus flavimaculatus"," fundus flavimaculatus"," stargardt 1"," stargardt disease, autosomal recessive"," stargardt's disease"]}