HLTRS
MCID: HYP652
MIFTS: 34

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

MalaCards integrated aliases for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

Name: Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 57 12 58 73 29 6 15 39
Telangiectatic Membranoproliferative Glomerulonephritis 57 12 20 73
Glomerulonephritis with Sparse Hair and Telangiectases 57 12 20 73
Hltrs 57 12 73
Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome 12 58
Glomerulonephritis Sparse Hair Telangiectases 71
Hlt-Renal Defect Syndrome 12

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®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare circulatory system diseases
Rare renal diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as telangiectatic membranoproliferative glomerulonephritis, 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 testis, kidney and skin, 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.

Related Diseases for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

# Related Disease Score Top Affiliating Genes
1 hypotrichosis-lymphedema-telangiectasia syndrome 31.8 TCEA2 SOX7 SOX18
2 astigmatism 9.7 TRIM42 CRYAA

Symptoms & Phenotypes for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Human phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 alopecia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001596
2 abnormality of the lymphatic system 58 31 hallmark (90%) Very frequent (99-80%) HP:0100763
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
6 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
7 predominantly lower limb lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0003550
8 palmar telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100869
9 plantar telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100870
10 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
11 cutis marmorata 58 31 frequent (33%) Frequent (79-30%) HP:0000965
12 hydrocele testis 58 31 frequent (33%) Frequent (79-30%) HP:0000034
13 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
14 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
15 pleural effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0002202
16 dermal atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0004334
17 global developmental delay 31 occasional (7.5%) HP:0001263
18 mandibular prognathia 31 HP:0000303
19 wide nasal bridge 31 HP:0000431
20 thick vermilion border 31 HP:0012471
21 lymphedema 31 HP:0001004
22 epicanthus 31 HP:0000286
23 prominent nasal bridge 31 HP:0000426
24 freckling 31 HP:0001480
25 long nose 31 HP:0003189
26 sparse eyelashes 31 HP:0000653
27 chronic kidney disease 31 HP:0012622
28 reduced subcutaneous adipose tissue 31 HP:0003758
29 oval face 31 HP:0000300
30 membranoproliferative glomerulonephritis 31 HP:0000793
31 pulmonary lymphangiectasia 31 HP:0006521
32 epidermal hyperkeratosis 31 HP:0007543
33 sparse and thin eyebrow 31 HP:0000535
34 facial telangiectasia in butterfly midface distribution 31 HP:0005598
35 telangiectasia of extensor surfaces 31 HP:0007621

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Hair:
alopecia
hypotrichosis
absent eyelashes
sparse hair
absent eyebrows

Head And Neck Eyes:
absent eyelashes
epicanthal folds
absent eyebrows
puffy eyelids

Muscle Soft Tissue:
decreased subcutaneous fat

Genitourinary Kidneys:
membranoproliferative glomerulonephritis
renal failure, progressive
thrombotic microangiopathy

Respiratory Lung:
pulmonary lymphangiectasia (1 affected fetus)

Neurologic Central Nervous System:
developmental delay, mild (1 patient)

Head And Neck Nose:
long nose
high nasal bridge
broad nasal root

Skin Nails Hair Skin:
telangiectasia
freckling in a butterfly pattern on the face

Head And Neck Face:
oval face
prognathism

Head And Neck Mouth:
full lips

Genitourinary External Genitalia Male:
hydrocele
scrotal edema

Prenatal Manifestations:
nonimmune fetal hydrops (1 patient)

Clinical features from OMIM®:

137940 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 8.62 CRYAA TRIM60

Drugs & Therapeutics for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

Genetic Tests for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genetic tests related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

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

Anatomical Context for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

40
Testis, Kidney, Skin

Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Articles related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome:

# Title Authors PMID Year
1
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. 61 57 6
24697860 2015
2
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 57 6
12740761 2003
3
Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. 6 57
2484451 1989
4
Retrotransposon insertion in the T-cell acute lymphocytic leukemia 1 (Tal1) gene is associated with severe renal disease and patchy alopecia in Hairpatches (Hpt) mice. 57
23301070 2013
5
Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? 6
11701398 2001
6
Hairpatches, a single gene mutation characterized by progressive renal disease and alopecia in the mouse. A potential model for a newly described heritable human disorder. 57
1836514 1991
7
Dominantly inherited glomerulonephritis and an unusual skin disease. 57
3435166 1987
8
R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma. 61
31358114 2019
9
Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. 61
1505956 1992

Variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SOX18 NM_018419.3(SOX18):c.310G>C (p.Ala104Pro) SNV Pathogenic 8000 rs28936692 20:62680560-62680560 20:64049207-64049207
2 SOX18 NM_018419.3(SOX18):c.283T>A (p.Trp95Arg) SNV Pathogenic 8001 rs28936693 20:62680587-62680587 20:64049234-64049234
3 SOX18 NM_018419.3(SOX18):c.720C>A (p.Cys240Ter) SNV Pathogenic 8002 rs74315430 20:62679954-62679954 20:64048601-64048601
4 SOX18 NM_018419.3(SOX18):c.481C>T (p.Gln161Ter) SNV Pathogenic 162093 rs794728015 20:62680193-62680193 20:64048840-64048840
5 SOX18 NM_018419.3(SOX18):c.712G>T (p.Glu238Ter) SNV Pathogenic 433539 rs1210062863 20:62679962-62679962 20:64048609-64048609

Expression for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

Pathways for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

GO Terms for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Molecular functions related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.02 TRIM60 TRIM42 TRIM35 TCEA2 RNF207

Sources for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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