{"Name":"Vascular hyalinosis","DiseaseID__c":"GARD:0004635","id":4635,"encodedName":"vascular-hyalinosis","IsDeleted":false,"Disease_Name_Full__c":"Vascular hyalinosis","Xref_IDs__c":"C1848590; C564750; MEDGEN:376398; MONDO:0010177; OMIM:277175; ORPHA:3018","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010177","Disease_Description__c":"A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.","GARD_Name__c":"Vascular hyalinosis","GARD_Synonym__c":"rambaud-gallian syndrome; rambaud-gallian-touchard syndrome; retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome; retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome","Curated_Disease_Description_Source__c":"MONDO:0010177","Curated_Disease_Description__c":"A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.","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:3018","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010177","ORPHANET_ID__c":"ORPHA:3018","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de isquemia retiniana-hialinosis de los vasos pequeños del tracto digestivo-calcificaciones cerebrales difusas","Spanish_Description_Source__c":"ORPHA:3018","Spanish_Description__c":"Es una enfermedad sistémica poco frecuente caracterizada por hialinosis progresiva que afecta a los capilares, arteriolas y pequeñas venas del tracto digestivo, los riñones y la retina, asociada a calcificaciones cerebrales idiopáticas. Se manifiesta como diarrea grave (con sangrado rectal y malabsorción), nefropatía (con insuficiencia renal e hipertensión sistémica), cicatrización coriorretiniana y hemorragia subaracnoidea. Adicionalmente, se puede observar poiquilodermia y encanecimiento prematuro.","Spanish_Disease_Name__c":"síndrome de isquemia retiniana-hialinosis de los vasos pequeños del tracto digestivo-calcificaciones cerebrales difusas","Spanish_GARD_Synonym__c":"síndrome de rambaud-gallian; síndrome de rambaud-gallian-touchard","Category_Linearization__c":"ORPHA:98028","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":"A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.","Curated_Disease_Description_Source__c":"MONDO:0010177","GARD_Synonym__c":"rambaud-gallian syndrome; rambaud-gallian-touchard syndrome; retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome; retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome","Name":"Vascular hyalinosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3018"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3018"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848590","Source__c":"C1848590","Xref__c":"C1848590"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=376398","Source__c":"C1848590","Xref__c":"MEDGEN:376398"},{"URL__c":"https://www.omim.org/entry/277175","Source__c":"C1848590; MONDO:0010177; ORPHA:3018","Xref__c":"OMIM:277175"},{"URL__c":"https://www.orpha.net/en/disease/detail/3018","Source__c":"C1848590; MONDO:0010177","Xref__c":"ORPHA:3018"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564750","Source__c":"MONDO:0010177","Xref__c":"C564750"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010177","Source__c":"GARD:0004635","Xref__c":"MONDO:0010177"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Hemorrhage occurring between the arachnoid mater and the pia mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002138","HPO_Synonym__c":"Subarachnoid hemorrhage","HPO_Name__c":"Subarachnoid hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002243","HPO_Name__c":"Protein-losing enteropathy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007777","HPO_Name__c":"Chorioretinal scar","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002573","HPO_Synonym__c":"Rectal bleeding","HPO_Name__c":"Hematochezia","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001029","HPO_Name__c":"Poikiloderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:277175","Feature__r":{"HPO_Description__c":"Impaired ability to absorb one or more nutrients from the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002024","HPO_Synonym__c":"Intestinal malabsorption; Malabsorption","HPO_Name__c":"Malabsorption","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Pediatrics"]},"synonyms":["rambaud-gallian syndrome"," rambaud-gallian-touchard syndrome"," retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"," retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"]}