{"Name":"Brachydactyly-arterial hypertension syndrome","DiseaseID__c":"GARD:0000967","id":967,"encodedName":"brachydactyly-arterial-hypertension-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly-arterial hypertension syndrome","Xref_IDs__c":"720568003; C1862170; C537095; DOID:0111247; MEDGEN:349445; MONDO:0007211; OMIM:112410; ORPHA:1276","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Description_Source__c":"MONDO:0007211","Disease_Description__c":"A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.","GARD_Name__c":"Brachydactyly-arterial hypertension syndrome","GARD_Synonym__c":"bilginturan brachydactyly; bilginturan syndrome; brachydactyly and arterial hypertension syndrome; brachydactyly type e with short stature and hypertension; brachydactyly type e, with short stature and hypertension","Curated_Disease_Description_Source__c":"MONDO:0007211","Curated_Disease_Description__c":"A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007211","ORPHANET_ID__c":"ORPHA:1276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de braquidactilia-hipertensión arterial","Spanish_Description_Source__c":"ORPHA:1276","Spanish_Description__c":"Es un síndrome poco frecuente de braquidactilia de origen genético caracterizado por la asociación de braquidactilia de tipo E con hipertensión (causada por anomalías vasculares o neurovasculares) y rasgos adicionales tales como talla baja y bajo peso al nacer (en comparación con los miembros no afectados de la familia), complexión recia y cara redondeada. La aparición de la hipertensión se suele producir en la infancia.","Spanish_Disease_Name__c":"síndrome de braquidactilia-hipertensión arterial","Spanish_GARD_Synonym__c":"braquidactilia de bilginturan; braquidactilia tipo e con talla baja e hipertensión; síndrome de bilginturan","Category_Linearization__c":"ORPHA:93890","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 brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood.","Curated_Disease_Description_Source__c":"MONDO:0007211","GARD_Synonym__c":"bilginturan brachydactyly; bilginturan syndrome; brachydactyly and arterial hypertension syndrome; brachydactyly type e with short stature and hypertension; brachydactyly type e, with short stature and hypertension","Name":"Brachydactyly-arterial hypertension 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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"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"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1276"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862170"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000967","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349445","Source__c":"C1862170","Xref__c":"MEDGEN:349445"},{"URL__c":"https://www.omim.org/entry/112410","Source__c":"C1862170; MONDO:0007211; ORPHA:1276","Xref__c":"OMIM:112410"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111247","Source__c":"MONDO:0007211","Xref__c":"DOID:0111247"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720568003","Source__c":"C1862170; MONDO:0007211","Xref__c":"720568003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537095","Source__c":"MONDO:0007211","Xref__c":"C537095"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862170","Source__c":"C1862170","Xref__c":"C1862170"},{"URL__c":"https://www.orpha.net/en/disease/detail/1276","Source__c":"C1862170; MONDO:0007211; ORPHA:1276","Xref__c":"ORPHA:1276"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007211","Source__c":"GARD:0000967","Xref__c":"MONDO:0007211"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PDE3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Orthopedics","Pediatrics"],"Account":["Nephrology","Congenital limb malformation"]},"synonyms":["bilginturan brachydactyly"," bilginturan syndrome"," brachydactyly and arterial hypertension syndrome"," brachydactyly type e with short stature and hypertension"," brachydactyly type e, with short stature and hypertension"]}