{"Name":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","DiseaseID__c":"GARD:0002492","id":2492,"encodedName":"hypotrichosis-lymphedema-telangiectasia-renal-defect-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","Xref_IDs__c":"C4317151; C536825; DOID:0111360; MEDGEN:1373459; MONDO:0019073; OMIM:137940","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"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":"OMIM:137940","Disease_Description__c":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by {3:Moalem et al., 2015}).","GARD_Name__c":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","GARD_Synonym__c":"hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome; hypotrichosis, lymphedema, telangiectasia, renal defect syndrome; telangiectatic membranoproliferative glomerulonephritis","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is a genetic condition that affects children and gets worse over time. It has four main features: hair loss (hypotrichosis), swelling in the arms and legs (lymphedema), small red spots on the skin (telangiectasia), and problems with the kidneys (renal defect). This condition is caused by a variant in the SOX18 gene. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one altered gene in order to develop the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:137940","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019073","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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-renal defect syndrome is a genetic condition that affects children and gets worse over time. It has four main features: hair loss (hypotrichosis), swelling in the arms and legs (lymphedema), small red spots on the skin (telangiectasia), and problems with the kidneys (renal defect). This condition is caused by a variant in the SOX18 gene. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one altered gene in order to develop the condition.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome; hypotrichosis, lymphedema, telangiectasia, renal defect syndrome; telangiectatic membranoproliferative glomerulonephritis","Name":"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002492","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536825","Source__c":"MONDO:0019073","Xref__c":"C536825"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4317151","Source__c":"C4317151","Xref__c":"C4317151"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1373459","Source__c":"C4317151","Xref__c":"MEDGEN:1373459"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111360","Source__c":"MONDO:0019073","Xref__c":"DOID:0111360"},{"URL__c":"https://www.omim.org/entry/137940","Source__c":"C4317151; MONDO:0019073","Xref__c":"OMIM:137940"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=723363009","Source__c":"C4317151","Xref__c":"723363009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019073","Source__c":"GARD:0002492","Xref__c":"MONDO:0019073"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SOX18","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"A face with a rounded and slightly elongated outline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000300","HPO_Synonym__c":"Oval face; Oval facial shape; Oval facies","HPO_Name__c":"Oval face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:137940","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007621","HPO_Name__c":"Telangiectasia of extensor surfaces","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005598","HPO_Synonym__c":"Butterfly facial telangiectasia","HPO_Name__c":"Facial telangiectasia in butterfly midface distribution","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001480","HPO_Synonym__c":"Freckling","HPO_Name__c":"Freckling","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Decreased density/number of eyelashes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000653","HPO_Synonym__c":"Hypotrichosis of eyelashes; Partial absence of eyelashes; Scant eyelashes; Scanty eyelashes; Sparse eyelashes; Thin eyelashes","HPO_Name__c":"Sparse eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","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"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","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":"OMIM:137940","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006521","HPO_Synonym__c":"Pulmonary lymphangiectasis","HPO_Name__c":"Pulmonary lymphangiectasia","Feature_System__c":"Cardiovascular System; Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003758","HPO_Synonym__c":"Decreased subcutaneous adipose tissue; Decreased subcutaneous fat; Reduced fat tissue below the skin; Reduced subcutaneous fat; Scanty adipose tissue","HPO_Name__c":"Reduced subcutaneous adipose tissue","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"A structural anomaly of the glomerulus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000095","HPO_Synonym__c":"Abnormality of renal glomerulus morphology; Morphologic abnormality of the renal glomerulus","HPO_Name__c":"Abnormal renal glomerulus morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010648","HPO_Synonym__c":"Translucent skin","HPO_Name__c":"Dermal translucency","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","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":"OMIM:137940","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:137940","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":"OMIM:137940","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001790","HPO_Synonym__c":"Hydrops fetalis, non-immune; Hydrops fetalis, nonimmune; Non-immune fetal hydrops; Nonimmune hydrops","HPO_Name__c":"Nonimmune hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Increased width of the skin of vermilion border region of upper lip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012471","HPO_Synonym__c":"Full lips; Increased volume of lip; Increased volume of lip vermillion; Plump lips; Prominent lips; Thick lips","HPO_Name__c":"Thick vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","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":"OMIM:137940","Feature__r":{"HPO_Description__c":"A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000793","HPO_Synonym__c":"Mesangiocapillary glomerulonephritis; MPGN","HPO_Name__c":"Membranoproliferative glomerulonephritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003189","HPO_Synonym__c":"Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation","HPO_Name__c":"Long nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:137940","Feature__r":{"HPO_Description__c":"Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000962","HPO_Synonym__c":"Epidermal hyperkeratosis","HPO_Name__c":"Hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Vascular Medicine"]},"synonyms":["hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome"," hypotrichosis, lymphedema, telangiectasia, renal defect syndrome"," telangiectatic membranoproliferative glomerulonephritis"]}