{"Name":"Choroideremia","DiseaseID__c":"GARD:0006061","id":6061,"encodedName":"choroideremia","IsDeleted":false,"Disease_Name_Full__c":"Choroideremia","Xref_IDs__c":"75241009; C0008525; C34469; D015794; DOID:9821; H31.21; MEDGEN:944; MONDO:0010557; NBK1337; OMIM:303100; ORPHA:180","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","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":3,"Description_Source__c":"MONDO:0010557","Disease_Description__c":"Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina.","GARD_Name__c":"Choroideremia","GARD_Synonym__c":"chm; chorioretinal scalloped atrophy; progressive choroidal atrophy; tapetochoroidal dystrophy","Curated_Disease_Description_Source__c":"GARD:0006061","Curated_Disease_Description__c":"Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity).  These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:180","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0010557","ORPHANET_ID__c":"ORPHA:180","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Coroideremia","Spanish_Description_Source__c":"ORPHA:180","Spanish_Description__c":"La coroideremia (CHM) es una distrofia coriorretiniana ligada al X caracterizada por una degeneración progresiva de la coroides, el epitelio pigmentario de la retina (EPR) y la retina.","Spanish_Disease_Name__c":"coroideremia","Spanish_GARD_Synonym__c":"chm; distrofia tapetocoroidal","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":"Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity).  These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.","Curated_Disease_Description_Source__c":"GARD:0006061","GARD_Synonym__c":"chm; chorioretinal scalloped atrophy; progressive choroidal atrophy; tapetochoroidal dystrophy","Name":"Choroideremia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"Choroideremia Research Foundation","Website__c":"https://curechm.org/"},{"Account_Name__c":"Choroideremia Research Foundation Canada","Website__c":"https://curechm.ca/"},{"Account_Name__c":"Royal National Institute of Blind People","Website__c":"https://www.rnib.org.uk/"}],"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":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:180"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:180"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:180"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0008525"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006061","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1337","Source__c":"Gene Review","Xref__c":"NBK1337"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34469","Source__c":"C0008525; MONDO:0010557","Xref__c":"C34469"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=944","Source__c":"C0008525","Xref__c":"MEDGEN:944"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/H31.21","Source__c":"MONDO:0010557","Xref__c":"H31.21"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0008525","Source__c":"C0008525","Xref__c":"C0008525"},{"URL__c":"https://www.orpha.net/en/disease/detail/180","Source__c":"C0008525; MONDO:0010557; ORPHA:180","Xref__c":"ORPHA:180"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9821","Source__c":"MONDO:0010557","Xref__c":"DOID:9821"},{"URL__c":"https://www.omim.org/entry/303100","Source__c":"C0008525; MONDO:0010557; ORPHA:180","Xref__c":"OMIM:303100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015794","Source__c":"C0008525; MONDO:0010557","Xref__c":"D015794"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=75241009","Source__c":"C0008525; MONDO:0010557","Xref__c":"75241009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001139","Source__c":"C0008525","Xref__c":"HP:0001139"},{"URL__c":"https://medlineplus.gov/genetics/condition/choroideremia","Source__c":"GARD:0006061","Xref__c":"https://medlineplus.gov/genetics/condition/choroideremia"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010557","Source__c":"GARD:0006061","Xref__c":"MONDO:0010557"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/chm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030602","HPO_Name__c":"Abnormal fundus autofluorescence imaging","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","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:180","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. It can either have a cystoid aspect in the fovea, or a more diffuse aspect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040049","HPO_Name__c":"Macular edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Well-defined, pale patches in the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001139","HPO_Name__c":"Chorioretinal scalloped atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","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:180","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007994","HPO_Synonym__c":"Kalnienk vision; Loss of peripheral vision","HPO_Name__c":"Peripheral visual field loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007787","HPO_Synonym__c":"Posterior subcapsular opacities of the lens","HPO_Name__c":"Posterior subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Choroidal neovascularization (CNV) is the inward growth of new blood vessels arising from the choriocapillaris. Depending on the stage of development, they can be external (type 1 NV) or internal (type 2 NV) to the retinal pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011506","HPO_Synonym__c":"Choroidal neovascular membrane","HPO_Name__c":"Choroidal neovascularization","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Vascular Neurology","Vascular Medicine","Pediatrics"],"Account":["Retinal"]},"synonyms":["chm"," chorioretinal scalloped atrophy"," progressive choroidal atrophy"," tapetochoroidal dystrophy"]}