{"Name":"Coats plus syndrome","DiseaseID__c":"GARD:0017412","id":17412,"encodedName":"coats-plus-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Coats plus syndrome","Xref_IDs__c":"711482008; C2677299; C567401; MEDGEN:383079; MONDO:0012815; OMIMPS:612199; ORPHA:313838","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012815","Disease_Description__c":"Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.","GARD_Name__c":"Coats plus syndrome","GARD_Synonym__c":"cerebroretinal microangiopathy with calcfications and cysts; cerebroretinal microangiopathy with calcifications and cysts; crmcc","Curated_Disease_Description_Source__c":"MONDO:0012815","Curated_Disease_Description__c":"Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss. People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function. Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots. Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:313838","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012815","ORPHANET_ID__c":"ORPHA:313838","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de coats plus","Spanish_Description_Source__c":"ORPHA:313838","Spanish_Description__c":"El síndrome de Coats plus es un trastorno pleiotrópico multisistémico caracterizado por telangiectasias y exudados retinianos, calcificación intracraneal con leucoencefalopatía y quistes cerebrales, osteopenia con predisposición a fracturas, aplasia medular, hemorragia gastrointestinal e hipertensión portal. El modo de transmisión es autosómico recesivo.","Spanish_Disease_Name__c":"síndrome de coats plus","Spanish_GARD_Synonym__c":"crmcc; microangiopatía cerebrorretiniana con calcificaciones y quistes","Category_Linearization__c":"ORPHA:98006","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":"Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body. Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss. People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function. Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots. Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.","Curated_Disease_Description_Source__c":"MONDO:0012815","GARD_Synonym__c":"cerebroretinal microangiopathy with calcfications and cysts; cerebroretinal microangiopathy with calcifications and cysts; crmcc","Name":"Coats plus syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Hunter's Hope Foundation","Website__c":"https://www.huntershope.org/"},{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Childhood","Provided_By__c":"ORPHA:313838"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK22301","Source__c":"Gene Review","Xref__c":"NBK22301"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567401","Source__c":"MONDO:0012815","Xref__c":"C567401"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711482008","Source__c":"C2677299; MONDO:0012815","Xref__c":"711482008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=383079","Source__c":"C2677299","Xref__c":"MEDGEN:383079"},{"URL__c":"https://www.orpha.net/en/disease/detail/313838","Source__c":"C2677299; MONDO:0012815; ORPHA:313838","Xref__c":"ORPHA:313838"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS612199","Source__c":"MONDO:0012815","Xref__c":"OMIMPS:612199"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2677299","Source__c":"C2677299","Xref__c":"C2677299"},{"URL__c":"https://medlineplus.gov/genetics/condition/coats-plus-syndrome","Source__c":"GARD:0017412","Xref__c":"https://medlineplus.gov/genetics/condition/coats-plus-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012815","Source__c":"GARD:0017412","Xref__c":"MONDO:0012815"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTC1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctc1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"STN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["cerebroretinal microangiopathy with calcfications and cysts"," cerebroretinal microangiopathy with calcifications and cysts"," crmcc"]}