{"Name":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","DiseaseID__c":"GARD:0021820","id":21820,"encodedName":"pseudoxanthoma-elasticum-like-skin-manifestations-with-retinitis-pigmentosa","IsDeleted":false,"Disease_Name_Full__c":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","Xref_IDs__c":"1220599002; C5680045; MEDGEN:1810682; MONDO:0018577; ORPHA:436274","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"ORPHA:436274","Disease_Description__c":"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.","GARD_Name__c":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","GARD_Synonym__c":"pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa; pxe-like syndrome with retinitis pigmentosa","Curated_Disease_Description_Source__c":"ORPHA:436274","Curated_Disease_Description__c":"A rare, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:436274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018577","ORPHANET_ID__c":"ORPHA:436274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Manifestaciones cutáneas similares al pseudoxantoma elástico con retinosis pigmentaria","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"manifestaciones cutáneas similares al pseudoxantoma elástico con retinosis pigmentaria","Spanish_GARD_Synonym__c":"manifestaciones cutáneas pseudoxantoma elástico-like con retinosis pigmentaria; síndrome similar a pex con retinosis pigmentaria","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, genetic, dermis elastic tissue disorder characterized by yellowish skin papules (resembling pseudoxanthoma elasticum) located on the neck, chest and/or flexural areas associated with loose, redundant, sagging skin on trunk and upper limbs, and retinitis pigmentosa, in the absence of clotting abnormalities. Patients present reduced night and peripheral vision, as well as optic nerve pallor, retinal pigment epithelium loss, attenuated retinal vessels and/or black pigment intra-retinal clumps.","Curated_Disease_Description_Source__c":"ORPHA:436274","GARD_Synonym__c":"pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa; pxe-like syndrome with retinitis pigmentosa","Name":"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"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":"Adult","Provided_By__c":"ORPHA:436274"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:436274"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:436274"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1810682","Source__c":"C5680045","Xref__c":"MEDGEN:1810682"},{"URL__c":"https://www.orpha.net/en/disease/detail/436274","Source__c":"C5680045; MONDO:0018577; ORPHA:436274","Xref__c":"ORPHA:436274"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5680045","Source__c":"C5680045","Xref__c":"C5680045"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018577","Source__c":"GARD:0021820","Xref__c":"MONDO:0018577"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1220599002","Source__c":"C5680045","Xref__c":"1220599002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GGCX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Discrete areas of pallor in which the pigment epithelium, choriocapillaris and choroidal pigment are absent.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007980","HPO_Name__c":"Absent retinal pigment epithelium","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the fundus of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001098","HPO_Synonym__c":"Abnormality of the fundus","HPO_Name__c":"Abnormal fundus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Narrowing of the retinal blood vessels, both arterioles and venules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007843","HPO_Synonym__c":"Narrowing of blood vessels in back of eye","HPO_Name__c":"Attenuation of retinal blood vessels","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000587","HPO_Synonym__c":"Abnormality of the optic nerve; optic nerve abnormalities; Optic nerve issue","HPO_Name__c":"Abnormal optic nerve morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loose and sagging skin often associated with loss of skin elasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001582","HPO_Synonym__c":"Loose redundant skin; Redundant skin folds; Sagging, redundant skin","HPO_Name__c":"Redundant skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Wrinkled, redundant, inelastic and sagging skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000973","HPO_Synonym__c":"Chalazoderma; Cutaneous laxity; Dermatochalasia; Dermatomegaly; Elastolysis; Generalized elastolysis; Hypoelastic skin; Inelastic skin; Lax skin; Loose and inelastic skin; Loose skin; Skin laxity","HPO_Name__c":"Cutis laxa","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:436274","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007522","HPO_Synonym__c":"Increased number of skin folds","HPO_Name__c":"Increased number of skin folds","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Ophthalmology","Dermatology","Retinal","Pediatrics"],"Account":["Dermatology","Retinal"]},"synonyms":["pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa"," pxe-like syndrome with retinitis pigmentosa"]}