{"Name":"Pseudoxanthoma elasticum, forme fruste","DiseaseID__c":"GARD:0010104","id":10104,"encodedName":"pseudoxanthoma-elasticum-forme-fruste","IsDeleted":false,"Disease_Name_Full__c":"Pseudoxanthoma elasticum, forme fruste","Xref_IDs__c":"C1867450; MEDGEN:357280; MONDO:0008333; OMIM:177850","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008333","Disease_Description__c":"An autosomal dominant form of PXE.","GARD_Name__c":"Pseudoxanthoma elasticum, forme fruste","GARD_Synonym__c":"pseudoxanthoma elasticum, heterozygous; pseudoxanthoma elasticum, incomplete","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Pseudoxanthoma elasticum (PXE), forme fruste is a condition where people with a change in one copy of the ABCC6 gene show limited  symptoms associated with PXE. In rare cases, those with this gene variant have a more traditional expression of the disease. There is also a rare form of PXE that is caused by changes in both the ABCC6 and GGCX genes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:177850","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008333","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Pseudoxanthoma elasticum (PXE), forme fruste is a condition where people with a change in one copy of the ABCC6 gene show limited  symptoms associated with PXE. In rare cases, those with this gene variant have a more traditional expression of the disease. There is also a rare form of PXE that is caused by changes in both the ABCC6 and GGCX genes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"pseudoxanthoma elasticum, heterozygous; pseudoxanthoma elasticum, incomplete","Name":"Pseudoxanthoma elasticum, forme fruste","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"PXE International","Website__c":"https://pxe.org/"},{"Account_Name__c":"Macular Disease Society","Website__c":"https://www.macularsociety.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010104","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1113","Source__c":"Gene Review","Xref__c":"NBK1113"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867450","Source__c":"C1867450","Xref__c":"C1867450"},{"URL__c":"https://www.omim.org/entry/177850","Source__c":"C1867450; MONDO:0008333","Xref__c":"OMIM:177850"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357280","Source__c":"C1867450","Xref__c":"MEDGEN:357280"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008333","Source__c":"GARD:0010104","Xref__c":"MONDO:0008333"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCC6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcc6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"The presence of calcium deposition in the falx cerebri.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005462","HPO_Name__c":"Calcification of falx cerebri","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001681","HPO_Name__c":"Angina pectoris","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","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":"OMIM:177850","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012457","HPO_Name__c":"Medial calcification of medium-sized arteries","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025533","HPO_Name__c":"Peau d'orange","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004966","HPO_Name__c":"Medial calcification of large arteries","Feature_System__c":"Musculoskeletal System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","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":"OMIM:177850","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"A papule with yellow color.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025507","HPO_Name__c":"Yellow papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002634","HPO_Name__c":"Arteriosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000218","HPO_Synonym__c":"Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched","HPO_Name__c":"High palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","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":"OMIM:177850","Feature__r":{"HPO_Description__c":"Peripheral arterial stenosis with onset before the age of 50 years.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005297","HPO_Name__c":"Premature occlusive vascular stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000608","HPO_Name__c":"Macular degeneration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"An anomaly of the sternum, also known as the breastbone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000766","HPO_Synonym__c":"Abnormality of the sternum; Pectus carinatum or pectus excavatum; Pectus deformities; Pectus deformity; Pectus excavatum or carinatum; Pectus excavatum or pectus carinatum; Pectus excavatum/carinatum; Sternal anomalies","HPO_Name__c":"Abnormal sternum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Irregular lines in the outer retina and Bruch membrane that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but can be idiopathic. They can be associated with neovascular complexes (choroid).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001102","HPO_Synonym__c":"Angioid streaks of the fundus; Angioid streaks of the retina; Angioid streaks, retina; Knapp streaks; Laquer cracks of the retina","HPO_Name__c":"Angioid streaks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","Feature__r":{"HPO_Description__c":"Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000573","HPO_Synonym__c":"Retinal bleeding; Retinal hemorrhages","HPO_Name__c":"Retinal hemorrhage","Feature_System__c":"Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177850","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"}}],"tags":{},"synonyms":["pseudoxanthoma elasticum, heterozygous"," pseudoxanthoma elasticum, incomplete"]}