Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome; Hltrs
Description
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).
Genes related to Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome; Hltrs
- SOX18
Clinical Features
Top most frequent phenotypes and symptoms related to Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome; Hltrs
- Global developmental delay
- Abnormal facial shape
- Hypertension
- Epicanthus
- Wide nasal bridge
- Edema
- Renal insufficiency
- Dilatation
- Alopecia
- Hyperkeratosis
And another 34 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome; Hltrs Is also known as glomerulonephritis with sparse hair and telangiectases, telangiectatic membranoproliferative glomerulonephritis.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Hypotrichosis-lymphedema-telangiectasia-renal Defect Syndrome; Hltrs Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Non-immune Hydrops Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
NGS Vascular Disorders Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
SOX18.
By Institute for Human Genetics University Clinic Freiburg (Germany).
SOX18
Specificity
100 %
Genes
100 % |
Lymphedema NGS Multi-Gene Panel (36 Genes).
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
BRAF, SOS1, SOX18, VEGFC, CBL, SHOC2, GJC2, TUBGCP6, CDK19, SPRED1, FAT4, ALG8, CCBE1, FLT4, FOXC2, GATA2, GJA1, GLA, HGF, HRAS , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Vascular Malformations NGS Multi-Gene Panel (21 Genes).
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).
BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Lymphedema Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, FLT4, FOXC2, GATA2, GJA1, KIF11, PTPN14
Specificity
9 %
Genes
100 % |
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SOX18
Specificity
100 %
Genes
100 % |
Hereditary kidney disorders - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)
View the complete list with 386 more genes
Specificity
1 %
Genes
100 % |
You can get up to 10 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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