{"Name":"CLAPO syndrome","DiseaseID__c":"GARD:0017044","id":17044,"encodedName":"clapo-syndrome","IsDeleted":false,"Disease_Name_Full__c":"CLAPO syndrome","Xref_IDs__c":"717765001; C2751313; C567763; MEDGEN:416522; MONDO:0013125; OMIM:613089; ORPHA:168984","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0013125","Disease_Description__c":"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.","GARD_Name__c":"CLAPO syndrome","GARD_Synonym__c":"capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome; capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; clapo (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome; clapo syndrome, somatic; lopez-gutierrez syndrome","Curated_Disease_Description_Source__c":"MONDO:0013125","Curated_Disease_Description__c":"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:168984","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013125","ORPHANET_ID__c":"ORPHA:168984","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome clapo","Spanish_Description_Source__c":"ORPHA:168984","Spanish_Description__c":"Es un síndrome de malformación vascular complejo y poco frecuente caracterizado por malformación capilar del labio inferior, malformación linfática de cara y cuello, asimetría facial y de las extremidades, y un exceso de crecimiento parcial o generalizado que afecta a uno o más segmentos del cuerpo.","Spanish_Disease_Name__c":"síndrome clapo","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, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.","Curated_Disease_Description_Source__c":"MONDO:0013125","GARD_Synonym__c":"capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome; capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; clapo (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome; clapo syndrome, somatic; lopez-gutierrez syndrome","Name":"CLAPO 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":"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":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:168984"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:168984"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:168984"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK153722","Source__c":"Gene Review","Xref__c":"NBK153722"},{"URL__c":"https://www.omim.org/entry/613089","Source__c":"C2751313; MONDO:0013125; ORPHA:168984","Xref__c":"OMIM:613089"},{"URL__c":"https://www.orpha.net/en/disease/detail/168984","Source__c":"C2751313; MONDO:0013125; ORPHA:168984","Xref__c":"ORPHA:168984"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751313","Source__c":"C2751313","Xref__c":"C2751313"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=416522","Source__c":"C2751313","Xref__c":"MEDGEN:416522"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717765001","Source__c":"C2751313; MONDO:0013125","Xref__c":"717765001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567763","Source__c":"MONDO:0013125","Xref__c":"C567763"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013125","Source__c":"GARD:0017044","Xref__c":"MONDO:0013125"}],"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:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001004","HPO_Synonym__c":"Lymphatic obstruction; Lymphoedema; Onset of lymphedema around puberty; Swelling caused by excess lymph fluid under skin","HPO_Name__c":"Lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height above that which is expected according to age and sex norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000098","HPO_Synonym__c":"Accelerated linear growth; Increased body height; Increased linear growth; Tall stature","HPO_Name__c":"Tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031487","HPO_Name__c":"Capillary malformation of the lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal difference between the left and right sides of the face.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000324","HPO_Synonym__c":"Asymmetric facies; Asymmetry of face; Asymmetry of right and left side of face; Crooked face; Facial asymmetry; Unsymmetrical face","HPO_Name__c":"Facial asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100553","HPO_Synonym__c":"Overgrowth of one leg","HPO_Name__c":"Hemihypertrophy of lower limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004099","HPO_Synonym__c":"Finger overgrowth; Megalodactyly","HPO_Name__c":"Macrodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Very frequent (80-99%)","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:168984","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one side of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001528","HPO_Synonym__c":"Asymmetric limb hypertrophy; Asymmetric overgrowth","HPO_Name__c":"Hemihypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A growth pattern that displays an abnormal difference between the left and the right side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100555","HPO_Synonym__c":"Uneven or disproportionate growth of one body part compared to another","HPO_Name__c":"Asymmetric growth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Overgrowth of only one arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100554","HPO_Synonym__c":"Overgrowth of one arm","HPO_Name__c":"Hemihypertrophy of upper limb","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000774","HPO_Synonym__c":"Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter","HPO_Name__c":"Narrow chest","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012721","HPO_Synonym__c":"Venous malformations","HPO_Name__c":"Venous malformation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100764","HPO_Name__c":"Lymphangioma","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Enlarged and tortuous veins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002619","HPO_Name__c":"Varicose veins","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001052","HPO_Synonym__c":"Nevus simplex; port-wine stain","HPO_Name__c":"Nevus flammeus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:168984","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003005","HPO_Name__c":"Ganglioneuroma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Vascular Medicine","Pediatrics"]},"synonyms":["capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome"," capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth"," clapo (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome"," clapo syndrome, somatic"," lopez-gutierrez syndrome"]}