Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Preferred Label : Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome;

Symbol : HLTRS;

CISMeF acronym : HLTRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Telangiectatic membranoproliferative glomerulonephritis; Glomerulonephritis with sparse hair and telangiectases;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SRY-box 18 gene (SOX18, 601618.0003);

Prefixed ID : #137940;

Details

Origin ID

137940;

UMLS CUI

C4317151;

Automatic exact mappings (from CISMeF team)
- hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [DO Concept]
Currated CISMeF NLP mapping
- Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) [SNOMED CT concept]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
DO Cross reference
- hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [DO Concept]
Genes related to phenotype
- Sry-box 18 [OMIM gene]
HPO term(s)
- Abnormal renal glomerulus morphology [HPO term]
- Absent eyebrow [HPO term]
- Absent eyelashes [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Congenital onset [HPO term]
- Epicanthus [HPO term]
- Epidermal hyperkeratosis [HPO term]
- Facial telangiectasia in butterfly midface distribution [HPO term]
- Freckling [HPO term]
- Global developmental delay [HPO term]
- Hydrocele testis [HPO term]
- Hypotrichosis [HPO term]
- Long nose [HPO term]
- Lymphedema [HPO term]
- Mandibular prognathia [HPO term]
- Membranoproliferative glomerulonephritis [HPO term]
- Oval face [HPO term]
- Palpebral edema [HPO term]
- Progressive [HPO term]
- Prominent nasal bridge [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Renal insufficiency [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyebrows and eyelashes [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Telangiectasia of extensor surfaces [HPO term]
- Thick vermilion border [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Glomerulonephritis-sparse hair-telangiectasis syndrome [ORDO Disease]
- Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome [ORDO Disease]
See also inter- (CISMeF)
- Glomerulonephritis sparse hair telangiectases [MeSH concept]
- Glomerulonephritis-sparse hair-telangiectasis syndrome [ORDO Disease]
- glomerulonephritis sparse hair telangiectases [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glomerulonephritis sparse hair telangiectases [MeSH concept]
- Glomerulonephritis-sparse hair-telangiectasis syndrome [ORDO Disease]
- Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) [SNOMED CT concept]
- glomerulonephritis sparse hair telangiectases [MeSH Supplementary Concept]

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