{"Name":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","DiseaseID__c":"GARD:0016796","id":16796,"encodedName":"body-skin-hyperlaxity-due-to-vitamin-k-dependent-coagulation-factor-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","Xref_IDs__c":"717941005; C1835813; C563654; MEDGEN:332067; MONDO:0012570; OMIM:610842; ORPHA:91135","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012570","Disease_Description__c":"A rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.","GARD_Name__c":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","GARD_Synonym__c":"pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like syndrome; pxe-like disorder with multiple coagulation factor deficiency; pxe-like syndrome","Curated_Disease_Description_Source__c":"ORPHA:91135","Curated_Disease_Description__c":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:91135","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012570","ORPHANET_ID__c":"ORPHA:91135","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperlaxitud de la piel del cuerpo por deficiencia de factor de coagulación dependiente de vitamina k","Spanish_Description_Source__c":"ORPHA:91135","Spanish_Description__c":"Es una enfermedad cutánea genética poco frecuente caracterizada por hiperlaxitud de la piel que afecta al tronco y a las extremidades.","Spanish_Disease_Name__c":"hiperlaxitud de la piel del cuerpo por deficiencia de factor de coagulación dependiente de vitamina k","Spanish_GARD_Synonym__c":"síndrome similar a pseudoxantoma elástico; síndrome similar a pxe","Category_Linearization__c":"ORPHA:89826","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":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.","Curated_Disease_Description_Source__c":"ORPHA:91135","GARD_Synonym__c":"pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like syndrome; pxe-like disorder with multiple coagulation factor deficiency; pxe-like syndrome","Name":"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:91135"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:91135"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563654","Source__c":"MONDO:0012570","Xref__c":"C563654"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717941005","Source__c":"MONDO:0012570","Xref__c":"717941005"},{"URL__c":"https://www.orpha.net/en/disease/detail/91135","Source__c":"C1835813; MONDO:0012570","Xref__c":"ORPHA:91135"},{"URL__c":"https://www.omim.org/entry/610842","Source__c":"C1835813; MONDO:0012570; ORPHA:91135","Xref__c":"OMIM:610842"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332067","Source__c":"C1835813","Xref__c":"MEDGEN:332067"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835813","Source__c":"C1835813","Xref__c":"C1835813"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012570","Source__c":"GARD:0016796","Xref__c":"MONDO:0012570"}],"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:91135","HPO_Frequency__c":"Very frequent (80-99%)","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:91135","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:91135","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91135","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:91135","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002621","HPO_Synonym__c":"Atherosclerotic cardiovascular disease; Narrowing and hardening of arteries","HPO_Name__c":"Atherosclerosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91135","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:91135","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91135","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency"," pseudoxanthoma elasticum-like syndrome"," pxe-like disorder with multiple coagulation factor deficiency"," pxe-like syndrome"]}