HLTRS
MCID: HYP652
MIFTS: 33
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Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS)
Categories:
Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:
Characteristics:Orphanet epidemiological data:58
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset at birth three patients with sox 18 mutations from 2 unrelated families have been reported (last curated june 2015) HPO:31
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course progressive congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Cardiovascular diseases Nephrological diseases Skin diseases Immune diseases
Orphanet: 58
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OMIM :
56
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 Moalem et al., 2015). (137940)
MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as glomerulonephritis with sparse hair and telangiectases, is related to hypotrichosis-lymphedema-telangiectasia syndrome and astigmatism. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome is SOX18 (SRY-Box Transcription Factor 18). Affiliated tissues include skin, kidney and testis, and related phenotypes are alopecia and abnormality of the lymphatic system Disease Ontology : 12 A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has material basis in heterozygous mutation in SOX18 on chromosome 20q13.33. UniProtKB/Swiss-Prot : 73 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome: A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. |
Diseases related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:58 31 (show all 35)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:137940 |
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MalaCards organs/tissues related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:40
Skin,
Kidney,
Testis,
T Cells
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Articles related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:
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ClinVar genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:6
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Search
GEO
for disease gene expression data for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome.
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Cellular components related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:
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