{"Name":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome","DiseaseID__c":"GARD:0017411","id":17411,"encodedName":"retinal-dystrophy-optic-nerve-edema-splenomegaly-anhidrosis-and-migraine-headache-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome","Xref_IDs__c":"C4749914; MEDGEN:1662266; MONDO:0013999; OMIM:614979; ORPHA:313800","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":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:0013999","Disease_Description__c":"A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.","GARD_Name__c":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome","GARD_Synonym__c":"optic nerve edema-splenomegaly syndrome; optic nerve edema, splenomegaly syndrome; retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache; rosah; rosah syndrome; splenomegaly, cytopenia, and vision loss","Curated_Disease_Description_Source__c":"MONDO:0013999","Curated_Disease_Description__c":"A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:313800","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013999","ORPHANET_ID__c":"ORPHA:313800","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de distrofia retiniana-edema del nervio óptico-esplenomegalia-anhidrosis-cefalea migrañosa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de distrofia retiniana-edema del nervio óptico-esplenomegalia-anhidrosis-cefalea migrañosa","Spanish_GARD_Synonym__c":"síndrome de edema del nervio óptico-esplenomegalia; síndrome rosah","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":"A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.","Curated_Disease_Description_Source__c":"MONDO:0013999","GARD_Synonym__c":"optic nerve edema-splenomegaly syndrome; optic nerve edema, splenomegaly syndrome; retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache; rosah; rosah syndrome; splenomegaly, cytopenia, and vision loss","Name":"Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine hea","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"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:313800"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1662266","Source__c":"C4749914","Xref__c":"MEDGEN:1662266"},{"URL__c":"https://www.orpha.net/en/disease/detail/313800","Source__c":"C4749914; MONDO:0013999; ORPHA:313800","Xref__c":"ORPHA:313800"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749914","Source__c":"C4749914","Xref__c":"C4749914"},{"URL__c":"https://www.omim.org/entry/614979","Source__c":"C4749914; MONDO:0013999; ORPHA:313800","Xref__c":"OMIM:614979"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771471002","Source__c":"C4749914","Xref__c":"771471002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013999","Source__c":"GARD:0017411","Xref__c":"MONDO:0013999"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK604494","Source__c":"Gene Review","Xref__c":"NBK604494"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALPK1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614979","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001025","HPO_Synonym__c":"Hives","HPO_Name__c":"Urticaria","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001876","HPO_Synonym__c":"Low blood cell count","HPO_Name__c":"Pancytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to sweat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000970","HPO_Synonym__c":"Anhydrosis; Lack of sweating; Sudomotor dysfunction; Sweating dysfunction","HPO_Name__c":"Anhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000548","HPO_Synonym__c":"Cone rod dystrophy; Cone-rod retinal dystrophy","HPO_Name__c":"Cone/cone-rod dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614979","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Neuro-Ophthalmology","Pediatrics"],"Account":["Retinal"]},"synonyms":["optic nerve edema-splenomegaly syndrome"," optic nerve edema, splenomegaly syndrome"," retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"," retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache"," rosah"," rosah syndrome"," splenomegaly, cytopenia, and vision loss"]}