{"Name":"LAMA5-related multisystemic syndrome","DiseaseID__c":"GARD:0022146","id":22146,"encodedName":"lama5-related-multisystemic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"LAMA5-related multisystemic syndrome","Xref_IDs__c":"1217370006; C5681442; MEDGEN:1806009; MONDO:0033856; ORPHA:521450","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0033856","Disease_Description__c":"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.","GARD_Name__c":"LAMA5-related multisystemic syndrome","GARD_Synonym__c":"laminin subunit alpha 5-related multisystemic syndrome","Curated_Disease_Description_Source__c":"MONDO:0033856","Curated_Disease_Description__c":"A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:521450","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033856","ORPHANET_ID__c":"ORPHA:521450","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome multisistémico asociado a lama5","Spanish_Description_Source__c":"ORPHA:521450","Spanish_Description__c":"Es una enfermedad multisistémica genética poco frecuente caracterizada por la aparición en el periodo de lactancia de anomalías cutáneas (como retraso en la cicatrización de heridas con cicatrices atróficas y alopecia moderada con cabello seco y quebradizo), degeneración de los bastones retinianos con ceguera nocturna, miopatía degenerativa con debilidad muscular, mialgia y calambres, osteoartritis, laxitud articular, prolapso de órganos internos, síndrome del riñón flotante, malabsorción e hipotiroidismo. Se ha descrito un fenotipo más grave en mujeres que en hombres.","Spanish_Disease_Name__c":"síndrome multisistémico asociado a lama5","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98023","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 systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.","Curated_Disease_Description_Source__c":"MONDO:0033856","GARD_Synonym__c":"laminin subunit alpha 5-related multisystemic syndrome","Name":"LAMA5-related multisystemic syndrome","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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:521450"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:521450"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/521450","Source__c":"C5681442; MONDO:0033856; ORPHA:521450","Xref__c":"ORPHA:521450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1806009","Source__c":"C5681442","Xref__c":"MEDGEN:1806009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681442","Source__c":"C5681442","Xref__c":"C5681442"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033856","Source__c":"GARD:0022146","Xref__c":"MONDO:0033856"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1217370006","Source__c":"C5681442","Xref__c":"1217370006"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMA5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Pediatrics"]},"synonyms":["laminin subunit alpha 5-related multisystemic syndrome"]}