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HLTS
MCID: HYP139
MIFTS: 43
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Hypotrichosis-Lymphedema-Telangiectasia Syndrome (HLTS)
Categories:
Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
two unrelated families have been reported (last curated june 2015) skin and hair abnormalities apparent at birth lymphedema occurs in the first or second decades of life (in most patients) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Immune diseases Nephrological diseases |
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GARD: 19 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a rare condition that, as the name suggests, is associated with sparse hair (hypotrichosis), lymphedema, and telangiectasia, particularly on the palms of the hands. Symptoms usually begin at birth or in early childhood and become worse over time. HLTS is thought to be caused by changes in the SOX18 gene. It can follow both an autosomal dominant or an autosomal recessive pattern of inheritance, depending on the affected family. MalaCards based summary: Hypotrichosis-Lymphedema-Telangiectasia Syndrome, also known as hlts, is related to hypotrichosis and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia Syndrome is SOX18 (SRY-Box Transcription Factor 18), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include skin, testis and heart, and related phenotypes are abnormality of the dentition and alopecia Disease Ontology: 11 A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has material basis in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33. OMIM®: 57 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). (607823) (Updated 08-Dec-2022) UniProtKB/Swiss-Prot: 73 A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. Wikipedia: 75 Hypotrichosis-lymphedema-telangiectasia syndrome is a congenital syndrome characterized by lymphedema... more... |
Human phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:30 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:607823 (Updated 08-Dec-2022)MGI Mouse Phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:45
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Cochrane evidence based reviews: hypotrichosis-lymphedema-telangiectasia syndrome |
Organs/tissues related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:
MalaCards :
Skin,
Testis,
Heart,
Lung,
Liver
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Articles related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:(show all 50)
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Genes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome (1 elite genes):(show all 13) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:5
UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:73
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Search
GEO
for disease gene expression data for Hypotrichosis-Lymphedema-Telangiectasia Syndrome.
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Biological processes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome according to GeneCards Suite gene sharing:
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