{"Name":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","DiseaseID__c":"GARD:0021384","id":21384,"encodedName":"segmental-progressive-overgrowth-syndrome-with-fibroadipose-hyperplasia","IsDeleted":false,"Disease_Name_Full__c":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","Xref_IDs__c":"787094005; C5192432; MEDGEN:1673986; MONDO:0017812; ORPHA:314662","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017812","Disease_Description__c":"A rare <i>PIK3CA</i>-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal pattern. Congenital overgrowth is typically associated.","GARD_Name__c":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:314662","Curated_Disease_Description__c":"A rare PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:314662","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017812","ORPHANET_ID__c":"ORPHA:314662","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de sobrecrecimiento segmentario progresivo con hiperplasia fibroadiposa","Spanish_Description_Source__c":"ORPHA:314662","Spanish_Description__c":"Es un síndrome poco frecuente de sobrecrecimiento asociado a PIK3CA caracterizado por un sobrecrecimiento segmentario y progresivo que afecta principalmente al tejido adiposo o a una mezcla de tejido adiposo y fibroso, con distintos grados de afectación del tejido subcutáneo y muscular, así como por sobrecrecimiento esquelético. La gravedad y el grado de sobrecrecimiento son muy variables, aunque suele ser asimétrico y desproporcionado, con mayor afectación de las extremidades inferiores que de las superiores y un patrón de progresión de distal a proximal. El síndrome asocia típicamente sobrecrecimiento congénito.","Spanish_Disease_Name__c":"síndrome de sobrecrecimiento segmentario progresivo con hiperplasia fibroadiposa","Spanish_GARD_Synonym__c":null,"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 PIK3CA-related overgrowth syndrome disease characterized by segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable, although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones, and progresses in a distal to proximal patten. Congenital overgrowth is typically associated.","Curated_Disease_Description_Source__c":"ORPHA:314662","Name":"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Klippel-Trenaunay Support Group","Website__c":"https://k-t.org/"},{"Account_Name__c":"M-CM Network","Website__c":"https://www.m-cm.net/"},{"Account_Name__c":"CLOVES Syndrome Community","Website__c":"https://www.clovessyndrome.org/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:314662"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:314662"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1673986","Source__c":"C5192432","Xref__c":"MEDGEN:1673986"},{"URL__c":"https://www.orpha.net/en/disease/detail/314662","Source__c":"C5192432; MONDO:0017812; ORPHA:314662","Xref__c":"ORPHA:314662"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5192432","Source__c":"C5192432","Xref__c":"C5192432"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=787094005","Source__c":"C5192432","Xref__c":"787094005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017812","Source__c":"GARD:0021384","Xref__c":"MONDO:0017812"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PIK3CA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pik3ca","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000034","HPO_Synonym__c":"Testicular hydrocele","HPO_Name__c":"Hydrocele testis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by the presence of supernumerary fingers or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010442","HPO_Synonym__c":"More than five fingers or toes on hands or feet","HPO_Name__c":"Polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009126","HPO_Synonym__c":"Increased adipose tissue; Increased fat tissue","HPO_Name__c":"Increased adipose tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A smooth, extratesticular, spherical cyst in the head of the epididymis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030424","HPO_Synonym__c":"Epididymal cysts","HPO_Name__c":"Epididymal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010816","HPO_Name__c":"Epidermal nevus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive growth or abnormal thickening of bone tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100774","HPO_Synonym__c":"Bone Hypertrophy; Bone overgrowth","HPO_Name__c":"Hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012032","HPO_Synonym__c":"Fatty lump; Noncancerous fatty lump","HPO_Name__c":"Lipoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012725","HPO_Synonym__c":"Cutaneous syndactyly of digits; Syndactyly, cutaneous","HPO_Name__c":"Cutaneous syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011276","HPO_Synonym__c":"Skin vascular malformation","HPO_Name__c":"Vascular skin abnormality","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001548","HPO_Synonym__c":"General overgrowth","HPO_Name__c":"Overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:314662","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025104","HPO_Name__c":"Capillary malformation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":[""]}