{"Name":"Retinal degeneration-nanophthalmos-glaucoma syndrome","DiseaseID__c":"GARD:0000395","id":395,"encodedName":"retinal-degeneration-nanophthalmos-glaucoma-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Retinal degeneration-nanophthalmos-glaucoma syndrome","Xref_IDs__c":"723503006; C2931831; C538364; MEDGEN:444153; MONDO:0009978; OMIM:267760; ORPHA:1574","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009978","Disease_Description__c":"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.","GARD_Name__c":"Retinal degeneration-nanophthalmos-glaucoma syndrome","GARD_Synonym__c":"mackay shek carr syndrome; mackay-shek-carr syndrome; retinal degeneration, nanophthalmos, glaucoma syndrome","Curated_Disease_Description_Source__c":"MONDO:0009978","Curated_Disease_Description__c":"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1574","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009978","ORPHANET_ID__c":"ORPHA:1574","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de degeneración retiniana-nanoftalmia-glaucoma","Spanish_Description_Source__c":"ORPHA:1574","Spanish_Description__c":"Es un síndrome caracterizado por una degeneración progresiva de la retina pigmentaria (con nictalopía y restricción del campo visual), degeneración macular quística y glaucoma de ángulo cerrado. Se ha descrito en siete miembros de una familia. Los pacientes también presentaban hipermetropía y nanoftalmos. El modo de transmisión es autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de degeneración retiniana-nanoftalmia-glaucoma","Spanish_GARD_Synonym__c":"síndrome de mackay-shek-carr","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":"Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009978","GARD_Synonym__c":"mackay shek carr syndrome; mackay-shek-carr syndrome; retinal degeneration, nanophthalmos, glaucoma syndrome","Name":"Retinal degeneration-nanophthalmos-glaucoma syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:1574"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931831","Source__c":"C2931831","Xref__c":"C2931831"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444153","Source__c":"C2931831","Xref__c":"MEDGEN:444153"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723503006","Source__c":"C2931831; MONDO:0009978","Xref__c":"723503006"},{"URL__c":"https://www.orpha.net/en/disease/detail/1574","Source__c":"C2931831; MONDO:0009978; ORPHA:1574","Xref__c":"ORPHA:1574"},{"URL__c":"https://www.omim.org/entry/267760","Source__c":"C2931831; MONDO:0009978; ORPHA:1574","Xref__c":"OMIM:267760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538364","Source__c":"MONDO:0009978","Xref__c":"C538364"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009978","Source__c":"GARD:0000395","Xref__c":"MONDO:0009978"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1574","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"}},{"Provided_By__c":"ORPHA:1574","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:1574","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:1574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1574","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:1574","HPO_Frequency__c":"Occasional (5-29%)","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:1574","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal"],"Account":["Retinal"]},"synonyms":["mackay shek carr syndrome"," mackay-shek-carr syndrome"," retinal degeneration, nanophthalmos, glaucoma syndrome"]}