{"Name":"Hypotrichosis-lymphedema-telangiectasia syndrome","DiseaseID__c":"GARD:0012827","id":12827,"encodedName":"hypotrichosis-lymphedema-telangiectasia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)","Xref_IDs__c":"CN294624; MEDGEN:977935; MONDO:0007670; ORPHA:69735","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Description_Source__c":"MONDO:0007670","Disease_Description__c":"Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.","GARD_Name__c":"Hypotrichosis-lymphedema-telangiectasia syndrome","GARD_Synonym__c":"hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome","Curated_Disease_Description_Source__c":"ORPHA:69735","Curated_Disease_Description__c":"Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family.","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:69735","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007670","ORPHANET_ID__c":"ORPHA:69735","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipotricosis-linfedema-telangiectasia-defecto renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hipotricosis-linfedema-telangiectasia-defecto renal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:89826","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":"Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family.","Curated_Disease_Description_Source__c":"ORPHA:69735","GARD_Synonym__c":"hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome","Name":"Hypotrichosis-lymphedema-telangiectasia syndrome (grouping)","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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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:69735"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:69735"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012827","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/69735","Source__c":"CN294624; MONDO:0007670","Xref__c":"ORPHA:69735"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294624","Source__c":"CN294624","Xref__c":"CN294624"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007670","Source__c":"GARD:0012827","Xref__c":"MONDO:0007670"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977935","Source__c":"CN294624","Xref__c":"MEDGEN:977935"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOX18","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000561","HPO_Synonym__c":"Absent eyelashes; Atrichia of eyelashes; Failure of development of eyelashes","HPO_Name__c":"Absent eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001541","HPO_Synonym__c":"Accumulation of fluid in the abdomen; Peritoneal effusion","HPO_Name__c":"Ascites","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased number of hairs per unit area of skin of the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002209","HPO_Synonym__c":"Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair","HPO_Name__c":"Sparse scalp hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Frequent (30-79%)","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:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100763","HPO_Name__c":"Abnormality of the lymphatic system","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial or complete wasting (atrophy) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004334","HPO_Synonym__c":"Atrophic skin; Skin atrophy; Skin degeneration","HPO_Name__c":"Dermal atrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Sparseness of the body hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002231","HPO_Synonym__c":"Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair","HPO_Name__c":"Sparse body hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003550","HPO_Name__c":"Predominantly lower limb lymphedema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of telangiectases on the skin of palm of hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100869","HPO_Synonym__c":"Telangiectases of palms and soles; Teleangiectases of palms","HPO_Name__c":"Palmar telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located on the skin of sole of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100870","HPO_Synonym__c":"Plantar teleangiectasia; Telangiectases of soles; Teleangiectases of soles","HPO_Name__c":"Plantar telangiectasia","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000965","HPO_Name__c":"Cutis marmorata","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001789","HPO_Name__c":"Hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002223","HPO_Synonym__c":"Absent eyebrow; Absent eyebrows; Failure of development of eyebrows","HPO_Name__c":"Absent eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:69735","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Dermatology","Vascular Medicine","Pediatrics"],"Account":["Nephrology","Dermatology"]},"synonyms":["hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome"]}