MCID: HYP139
MIFTS: 28

Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Nephrological diseases

Aliases & Classifications for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

MalaCards integrated aliases for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

Name: Hypotrichosis-Lymphedema-Telangiectasia Syndrome 57 53 75 29 13 6 40 73
Hlts 57 53 75
Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome 53
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 53
Hypotrichosis Lymphedema Telangiectasia Syndrome 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated june 2015)
skin and hair abnormalities apparent at birth
lymphedema occurs in childhood


HPO:

32
hypotrichosis-lymphedema-telangiectasia syndrome:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

NIH Rare Diseases : 53 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 (mutations) in the SOX18 gene. It can follow both an autosomal dominantĀ or anĀ autosomal recessive pattern of inheritance, depending on the affected family. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia Syndrome, also known as hlts, is related to hypotrichosis-lymphedema-telangiectasia-renal defect syndrome and lymphedema. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia Syndrome is SOX18 (SRY-Box 18). Affiliated tissues include skin and testis, and related phenotypes are hydrocele testis and abnormality of the dentition

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)

UniProtKB/Swiss-Prot : 75 Hypotrichosis-lymphedema-telangiectasia syndrome: A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies.

Related Diseases for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Diseases related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.8
2 lymphedema 10.5
3 hypotrichosis 10.5
4 rhinitis 9.9
5 atrophic rhinitis 9.9

Graphical network of the top 20 diseases related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:



Diseases related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Symptoms & Phenotypes for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Hair:
hypotrichosis
absent eyelashes
absent eyebrows
hair loss, progressive

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Skin:
normal sweating
thin, transparent skin (hands and feet)
lower limb lymphedema
telangiectases (palms, soles, scalp, scrotum, legs)

Head And Neck Eyes:
absent eyelashes
absent eyebrows
eyelid edema (present at birth)

Head And Neck Teeth:
normal teeth

Genitourinary External Genitalia Male:
hydrocele
scrotal edema


Clinical features from OMIM:

607823

Human phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hydrocele testis 32 HP:0000034
2 abnormality of the dentition 32 HP:0000164
3 absent eyelashes 32 HP:0000561
4 thin skin 32 HP:0000963
5 hypotrichosis 32 HP:0001006
6 alopecia 32 HP:0001596
7 abnormality of the nail 32 HP:0001597
8 nonimmune hydrops fetalis 32 HP:0001790
9 absent eyebrow 32 HP:0002223
10 predominantly lower limb lymphedema 32 HP:0003550
11 palpebral edema 32 HP:0100540
12 palmar telangiectasia 32 HP:0100869

Drugs & Therapeutics for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Genetic Tests for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Genetic tests related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

# Genetic test Affiliating Genes
1 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 29 SOX18

Anatomical Context for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

MalaCards organs/tissues related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

41
Skin, Testis

Publications for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Articles related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

# Title Authors Year
1
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS). ( 29307792 )
2018
2
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. ( 26631803 )
2016
3
Aortic Dilatation Associated With a De Novo Mutation inA theA SOX18 Gene: Expanding the Clinical Spectrum ofA Hypotrichosis-Lymphedema-Telangiectasia Syndrome. ( 26148450 )
2015
4
Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. ( 19429912 )
2009

Variations for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 SOX18 p.Trp95Arg VAR_016210 rs28936693
2 SOX18 p.Ala104Pro VAR_016211 rs28936692

ClinVar genetic disease variations for Hypotrichosis-Lymphedema-Telangiectasia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX18 NM_018419.2(SOX18): c.310G> C (p.Ala104Pro) single nucleotide variant Pathogenic rs28936692 GRCh37 Chromosome 20, 62680560: 62680560
2 SOX18 NM_018419.2(SOX18): c.310G> C (p.Ala104Pro) single nucleotide variant Pathogenic rs28936692 GRCh38 Chromosome 20, 64049207: 64049207
3 SOX18 NM_018419.2(SOX18): c.283T> A (p.Trp95Arg) single nucleotide variant Pathogenic rs28936693 GRCh37 Chromosome 20, 62680587: 62680587
4 SOX18 NM_018419.2(SOX18): c.283T> A (p.Trp95Arg) single nucleotide variant Pathogenic rs28936693 GRCh38 Chromosome 20, 64049234: 64049234
5 SOX18 NM_018419.2(SOX18): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs794728015 GRCh38 Chromosome 20, 64048840: 64048840
6 SOX18 NM_018419.2(SOX18): c.481C> T (p.Gln161Ter) single nucleotide variant Pathogenic rs794728015 GRCh37 Chromosome 20, 62680193: 62680193

Expression for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Search GEO for disease gene expression data for Hypotrichosis-Lymphedema-Telangiectasia Syndrome.

Pathways for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

GO Terms for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

Biological processes related to Hypotrichosis-Lymphedema-Telangiectasia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 8.62 SOX18 TCEA2

Sources for Hypotrichosis-Lymphedema-Telangiectasia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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