HLTRS
MCID: HYP652
MIFTS: 33

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 56 12 58 73 15 39
Glomerulonephritis with Sparse Hair and Telangiectases 56 12 52 73 29 6
Telangiectatic Membranoproliferative Glomerulonephritis 56 12 52 73
Hltrs 56 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:

56
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 : 56 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)

MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as glomerulonephritis with sparse hair and telangiectases, 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 skin, kidney and testis, 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 32.5 SOX7 SOX18
2 astigmatism 9.6 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:

56
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:
delayed development, 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

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 Glomerulonephritis with Sparse Hair and Telangiectases 29 SOX18

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

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

40
Skin, Kidney, Testis, T Cells

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. 6 56
24697860 2015
2
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. 56 6
12740761 2003
3
Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. 6 56
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. 61 56
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. 56
1836514 1991
7
Dominantly inherited glomerulonephritis and an unusual skin disease. 56
3435166 1987

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.712G>T (p.Glu238Ter)SNV Pathogenic 433539 rs1210062863 20:62679962-62679962 20:64048609-64048609
2 SOX18 NM_018419.3(SOX18):c.720C>A (p.Cys240Ter)SNV Pathogenic 8002 rs74315430 20:62679954-62679954 20:64048601-64048601

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

Cellular components related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear transcription factor complex GO:0044798 8.62 SOX7 SOX18

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

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.33 TRIM60 TRIM40 TRIM34
2 innate immune response GO:0045087 9.26 TRIM60 TRIM40 TRIM35 TRIM34
3 protein ubiquitination GO:0016567 8.92 TRIM60 TRIM40 TRIM35 TRIM34

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.7 TRIM60 TRIM42 TRIM40 TRIM35 TRIM34 RNF207
2 ubiquitin protein ligase activity GO:0061630 9.26 TRIM60 TRIM40 TRIM35 TRIM34
3 zinc ion binding GO:0008270 9.1 TRIM60 TRIM42 TRIM40 TRIM35 TRIM34 RNF207

Sources for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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