{"Name":"Hereditary cavernous hemangioma of brain","DiseaseID__c":"GARD:0013641","id":13641,"encodedName":"hereditary-cavernous-hemangioma-of-brain","IsDeleted":false,"Disease_Name_Full__c":"Hereditary cavernous hemangioma of brain","Xref_IDs__c":"717003001; C2931263; MEDGEN:419031; MONDO:0031037; OMIMPS:116860; ORPHA:221061","USA_Estimate__c":"200,000","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":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0031037","Disease_Description__c":"A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","GARD_Name__c":"Hereditary cavernous hemangioma of brain","GARD_Synonym__c":"familial brain cavernous angioma; familial brain cavernous hemangioma; familial cerebral cavernoma; familial cerebral cavernous malformation; famililal cerebral cavernous malformations; hereditary brain cavernous angioma; hereditary brain cavernous hemangioma; hereditary cerebral cavernoma; hereditary cerebral cavernous malformation","Curated_Disease_Description_Source__c":"ORPHA:221061","Curated_Disease_Description__c":"A rare, capillary-venous malformation characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:221061","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0031037","ORPHANET_ID__c":"ORPHA:221061","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Malformación cavernosa cerebral hereditaria","Spanish_Description_Source__c":"ORPHA:221061","Spanish_Description__c":"Son malformaciones venosas capilares poco frecuentes caracterizadas por densos racimos de capilares dilatados de forma irregular, que pueden ser asintomáticas o pueden causar manifestaciones neurológicas variables tales como crisis epilépticas, cefaleas inespecíficas, déficits neurológicos focales transitorios o progresivos y hemorragias cerebrales.","Spanish_Disease_Name__c":"malformación cavernosa cerebral hereditaria","Spanish_GARD_Synonym__c":"angioma cavernoso cerebral familiar; angioma cavernoso cerebral hereditario; cavernoma cerebral familiar; cavernoma cerebral hereditario; hemangioma cavernoso cerebral familiar; hemangioma cavernoso cerebral hereditario; malformación cavernosa cerebral familiar","Category_Linearization__c":"ORPHA:93890","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, capillary-venous malformation characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.","Curated_Disease_Description_Source__c":"ORPHA:221061","GARD_Synonym__c":"familial brain cavernous angioma; familial brain cavernous hemangioma; familial cerebral cavernoma; familial cerebral cavernous malformation; famililal cerebral cavernous malformations; hereditary brain cavernous angioma; hereditary brain cavernous hemangioma; hereditary cerebral cavernoma; hereditary cerebral cavernous malformation","Name":"Hereditary cavernous hemangioma of brain","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alliance to Cure Cavernous Malformation","Website__c":"https://www.alliancetocure.org/"},{"Account_Name__c":"Cavernoma Alliance UK","Website__c":"https://cavernoma.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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"All ages","Provided_By__c":"ORPHA:221061"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013641","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1293","Source__c":"Gene Review","Xref__c":"NBK1293"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS116860","Source__c":"MONDO:0031037","Xref__c":"OMIMPS:116860"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717003001","Source__c":"C2931263; MONDO:0031037","Xref__c":"717003001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419031","Source__c":"C2931263","Xref__c":"MEDGEN:419031"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931263","Source__c":"C2931263","Xref__c":"C2931263"},{"URL__c":"https://www.orpha.net/en/disease/detail/221061","Source__c":"C2931263; MONDO:0031037; ORPHA:221061","Xref__c":"ORPHA:221061"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0031037","Source__c":"GARD:0013641","Xref__c":"MONDO:0031037"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRIT1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krit1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PDCD10","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pdcd10","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CCM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ccm2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PIK3CA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pik3ca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Benign choroidal tumour, seen in the fundus as a reddish or orange choroidal lesion and usually associated with cystoid edema, and less commonly with Subretinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007872","HPO_Name__c":"Choroidal hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001028","HPO_Synonym__c":"Strawberry mark","HPO_Name__c":"Hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001048","HPO_Synonym__c":"Cavernous angioma; Cavernous haemangioma; Collection of dilated blood vessels that forms mass","HPO_Name__c":"Cavernous hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paroxysmal, recurrent episodes of vomiting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002572","HPO_Synonym__c":"Episodic vomiting","HPO_Name__c":"Episodic vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033522","HPO_Name__c":"Cerebral cavernous malformation","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009588","HPO_Synonym__c":"Acoustic Neuroma; Vestibular neurilemmoma; Vestibular neurinoma; Vestibular neurolemmoma; Vestibular Schwann cell tumor","HPO_Name__c":"Vestibular schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012748","HPO_Name__c":"Focal T2 hyperintense brainstem lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor made up of nerve cells and nerve fibers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030430","HPO_Synonym__c":"Nerve tumor; Pinched nerve","HPO_Name__c":"Neuroma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012749","HPO_Name__c":"Focal T2 hypointense brainstem lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased ability to perceive touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033748","HPO_Synonym__c":"Numbness","HPO_Name__c":"Hypoesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002858","HPO_Name__c":"Meningioma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009592","HPO_Name__c":"Astrocytoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100561","HPO_Name__c":"Spinal cord lesion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hemorrhage into the parenchyma of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001342","HPO_Synonym__c":"Bleeding in brain; Intracerebral hemorrhage","HPO_Name__c":"Cerebral hemorrhage","Feature_System__c":"Nervous System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous hemangioma are described as having a 'cluster of grapes' appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011513","HPO_Synonym__c":"Retinal cavernous angioma","HPO_Name__c":"Retinal cavernous hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:221061","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Calcification within the adrenal glands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010512","HPO_Name__c":"Adrenal calcification","Feature_System__c":"Musculoskeletal System; Endocrine System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"]},"synonyms":["familial brain cavernous angioma"," familial brain cavernous hemangioma"," familial cerebral cavernoma"," familial cerebral cavernous malformation"," famililal cerebral cavernous malformations"," hereditary brain cavernous angioma"," hereditary brain cavernous hemangioma"," hereditary cerebral cavernoma"," hereditary cerebral cavernous malformation"]}