Hypotrichosis-lymphedema-telangiectasia Syndrome; Hlts

Description

Hypotrichosis-lymphedema-telangiectasia syndrome is an autosomal recessive disorder characterized by these 3 features, which begin at birth or in early childhood and are progressive (summary by Irrthum et al., 2003).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotrichosis-lymphedema-telangiectasia Syndrome; Hlts

  • Nevus
  • Edema
  • Abnormality of the dentition
  • Respiratory distress
  • Alopecia
  • Hyperhidrosis
  • Thin skin
  • Hypotrichosis
  • Lymphedema
  • Abnormality of the nail
And another 10 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Hypotrichosis-lymphedema-telangiectasia Syndrome; Hlts Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

PTEN, GJC2, SMAD4, GATA2, ENG, KRIT1, CCM2, PDCD10, FOXC2, RASA1, SOX18, CCBE1, ACVRL1, GDF2, GLMN, VEGFC, STAMBP, KIF11, PTPN14, TEK , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
SOX18.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SOX18
Specificity
100 %
Genes
100 %
Lymphedema NGS Multi-Gene Panel (36 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

RAF1, ALG8, MPI, PMM2, BRAF, GJC2, GLA, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, MAP2K2, CBL, MET, GATA2, RELN, HGF , (...)

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 in Netherlands.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GDF2, KCNK3, CAV1, BMPR2, GLMN, TEK, PIK3CA, GNAQ, KDR, MAP3K3, DOCK6 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Lymphedema Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4, GJA1
Specificity
9 %
Genes
100 %
Lymphedema with Hypotrichosis and Telangiectasia via SOX18 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SOX18
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Hypotrichosis-lymphedema-telangiectasia syndrome.

By Centogene AG - the Rare Disease Company in Germany.

SOX18
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel.

By CeGaT GmbH in Germany.

BCS1L, DSP, FGFR3, GJB6, PORCN, SHOC2, FGFR2, OFD1, GRHL2, WDR35, SOX18, CTSC, TP63, CDH3, WDR19, FGF10, GJA1, IFT43, IFT122, AXIN2 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

GJC2, GATA2, ENG, KRIT1, CCM2, PDCD10, TREX1, FOXC2, FAT4, RASA1, SOX18, CCBE1, ACVRL1, GDF2, VEGFC, KIF11, FLT4, SERPING1
Specificity
6 %
Genes
100 %
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

RAF1, GJC2, HRAS, IKBKG, KRAS, NRAS, PTPN11, SOS1, GATA2, HGF, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, VEGFC, KIF11, PTPN14, FLT4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
LYMPHEDEMA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GJC2, GATA2, LMNA, FOXC2, SOX18, CCBE1, ZMPSTE24, KIF11, FLT4
Specificity
12 %
Genes
100 %
SOX18.

By Fulgent Genetics Fulgent Genetics in United States.

SOX18
Specificity
100 %
Genes
100 %
Lymphatic Malformations and Related Disorders Panel.

By Blueprint Genetics in Finland.

GJC2, GATA2, FOXC2, PIEZO1, FAT4, RASA1, SOX18, CCBE1, KIF11, FLT4, PIK3CA
Specificity
10 %
Genes
100 %
Vascular Malformations Panel.

By Blueprint Genetics in Finland.

PTEN, SMAD4, ENG, KRIT1, CCM2, PDCD10, RASA1, SOX18, ACVRL1, GLMN, STAMBP, TEK, PIK3CA, ELMO2
Specificity
8 %
Genes
100 %
Hypotrichosis-Lymphedema-Telangiectasia Syndrome , Sequencing SOX18 Gene.

By Reference Laboratory Genetics in Spain.

SOX18
Specificity
100 %
Genes
100 %
Lymphedema-Lethal Restrictive Dermopathy , Panel Massive Sequencing (NGS) 7 Genes.

By Reference Laboratory Genetics in Spain.

GATA2, FOXC2, SOX18, ZMPSTE24, VEGFC, KIF11, FLT4
Specificity
15 %
Genes
100 %


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