{"Name":"Singleton-Merten syndrome","DiseaseID__c":"GARD:0000122","id":122,"encodedName":"singleton-merten-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Singleton-Merten syndrome","Xref_IDs__c":"254114000; C0432254; C537343; MEDGEN:98481; MONDO:0008429; OMIMPS:182250; ORPHA:85191","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008429","Disease_Description__c":"Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).","GARD_Name__c":"Singleton-Merten syndrome","GARD_Synonym__c":"merten-singleton syndrome; singleton merten syndrome; singleton-merten dysplasia; sm syndrome","Curated_Disease_Description_Source__c":"GARD:0000122","Curated_Disease_Description__c":"Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome. Singleton-Merten syndrome is caused by genetic changes in the IFIH1 gene, and in the DDX58 genes (which causes an atypical form of Singleton-Merten syndrome where there are no teeth problems). Inheritance is autosomal dominant, but it may also occur sporadically (in individuals with no history of the condition in their family). The genes causing Singeleton-Merten syndrome can activate type I interferon (IFN1) responses. Diseases related to INF1 are known as type I interferonopathies. Type I interferonopathies are a group of rheumatic diseases that are frequently severe. These diseases include Aicardi-Gouti&egrave, res syndrome, familial chilblain lupus, spondyloenchondrodysplasia, the proteasome associated autoinflammatory syndromes, IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome, and STING-associated vasculopathy with onset in infancy (SAVI).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:85191","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008429","ORPHANET_ID__c":"ORPHA:85191","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de singleton-merten","Spanish_Description_Source__c":"ORPHA:85191","Spanish_Description__c":"Es un trastorno caracterizado por displasia dental, calcificación progresiva de la aorta torácica con estenosis, osteoporosis y expansión de las cavidades medulares de los huesos de la mano. Otras características adicionales asociadas incluyeron debilidad y atrofia muscular generalizada y erupciones cutáneas psoriasiformes crónicas. Se ha descrito en cuatro pacientes no emparentados (hombres y mujeres) y en una familia con varios miembros afectos (hombres).","Spanish_Disease_Name__c":"displasia de singleton-merten","Spanish_GARD_Synonym__c":"síndrome de singleton-merten","Category_Linearization__c":"ORPHA:93419","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":"Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles (muscle atrophy); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome. Singleton-Merten syndrome is caused by genetic changes in the IFIH1 gene, and in the DDX58 genes (which causes an atypical form of Singleton-Merten syndrome where there are no teeth problems). Inheritance is autosomal dominant, but it may also occur sporadically (in individuals with no history of the condition in their family). The genes causing Singeleton-Merten syndrome can activate type I interferon (IFN1) responses. Diseases related to INF1 are known as type I interferonopathies. Type I interferonopathies are a group of rheumatic diseases that are frequently severe. These diseases include Aicardi-Gouti&egrave, res syndrome, familial chilblain lupus, spondyloenchondrodysplasia, the proteasome associated autoinflammatory syndromes, IFN-stimulated gene 15 (ISG15) deficiency, Singleton-Merten syndrome, and STING-associated vasculopathy with onset in infancy (SAVI).","Curated_Disease_Description_Source__c":"GARD:0000122","GARD_Synonym__c":"merten-singleton syndrome; singleton merten syndrome; singleton-merten dysplasia; sm syndrome","Name":"Singleton-Merten syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:85191"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C4225427"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000122","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/85191","Source__c":"C0432254; MONDO:0008429; ORPHA:85191","Xref__c":"ORPHA:85191"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254114000","Source__c":"C0432254; MONDO:0008429","Xref__c":"254114000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537343","Source__c":"MONDO:0008429","Xref__c":"C537343"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS182250","Source__c":"MONDO:0008429","Xref__c":"OMIMPS:182250"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432254","Source__c":"C0432254","Xref__c":"C0432254"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98481","Source__c":"C0432254","Xref__c":"MEDGEN:98481"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008429","Source__c":"GARD:0000122","Xref__c":"MONDO:0008429"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RIGI","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"IFIH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ifih1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Orthopedics"]},"synonyms":["merten-singleton syndrome"," singleton merten syndrome"," singleton-merten dysplasia"," sm syndrome"],"spanishId":13414,"spanishName":"sindrome-de-singleton-merten"}