HLTRS
MCID: HYP652
MIFTS: 24

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

Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare 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 58 76 41
Glomerulonephritis with Sparse Hair and Telangiectases 58 54 76 30 6
Telangiectatic Membranoproliferative Glomerulonephritis 58 54 76
Hltrs 58 76
Glomerulonephritis Sparse Hair Telangiectases 74

Characteristics:

OMIM:

58
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:

33
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome:
Onset and clinical course congenital onset progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

OMIM : 58 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. An important gene associated with Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome is SOX18 (SRY-Box 18). Affiliated tissues include kidney and testis, and related phenotypes are alopecia and abnormality of the lymphatic system

UniProtKB/Swiss-Prot : 76 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 11.7

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

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

33 (show all 36)
# Description HPO Frequency HPO Source Accession
1 alopecia 33 hallmark (90%) HP:0001596
2 abnormality of the lymphatic system 33 hallmark (90%) HP:0100763
3 sparse scalp hair 33 hallmark (90%) HP:0002209
4 sparse body hair 33 hallmark (90%) HP:0002231
5 absent eyelashes 33 hallmark (90%) HP:0000561
6 palmar telangiectasia 33 hallmark (90%) HP:0100869
7 absent eyebrow 33 hallmark (90%) HP:0002223
8 predominantly lower limb lymphedema 33 hallmark (90%) HP:0003550
9 plantar telangiectasia 33 hallmark (90%) HP:0100870
10 palpebral edema 33 frequent (33%) HP:0100540
11 cutis marmorata 33 frequent (33%) HP:0000965
12 hydrocele testis 33 frequent (33%) HP:0000034
13 global developmental delay 33 occasional (7.5%) HP:0001263
14 ascites 33 occasional (7.5%) HP:0001541
15 hydrops fetalis 33 occasional (7.5%) HP:0001789
16 pleural effusion 33 occasional (7.5%) HP:0002202
17 dermal atrophy 33 occasional (7.5%) HP:0004334
18 mandibular prognathia 33 HP:0000303
19 wide nasal bridge 33 HP:0000431
20 thick vermilion border 33 HP:0012471
21 epicanthus 33 HP:0000286
22 lymphedema 33 HP:0001004
23 prominent nasal bridge 33 HP:0000426
24 hypotrichosis 33 HP:0001006
25 long nose 33 HP:0003189
26 facial telangiectasia in butterfly midface distribution 33 HP:0005598
27 chronic kidney disease 33 HP:0012622
28 sparse eyelashes 33 HP:0000653
29 freckling 33 HP:0001480
30 epidermal hyperkeratosis 33 HP:0007543
31 pulmonary lymphangiectasia 33 HP:0006521
32 membranoproliferative glomerulonephritis 33 HP:0000793
33 oval face 33 HP:0000300
34 reduced subcutaneous adipose tissue 33 HP:0003758
35 sparse and thin eyebrow 33 HP:0000535
36 telangiectasia of extensor surfaces 33 HP:0007621

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Hair:
alopecia
hypotrichosis
sparse hair
absent eyelashes
absent eyebrows

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

Muscle Soft Tissue:
decreased subcutaneous fat

Head And Neck Face:
oval face
prognathism

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

Genitourinary Kidneys:
membranoproliferative glomerulonephritis
renal failure, progressive
thrombotic microangiopathy

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 30 SOX18

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

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

42
Kidney, Testis

Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

# Title Authors Year
1
Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. ( 24697860 )
2015
2
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. ( 12740761 )
2003
3
Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. ( 2484451 )
1989

Variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX18 NM_018419.2(SOX18): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs74315430 GRCh37 Chromosome 20, 62679954: 62679954
2 SOX18 NM_018419.2(SOX18): c.720C> A (p.Cys240Ter) single nucleotide variant Pathogenic rs74315430 GRCh38 Chromosome 20, 64048601: 64048601
3 SOX18 NM_018419.2(SOX18): c.712G> T (p.Glu238*) single nucleotide variant Pathogenic rs1210062863 GRCh37 Chromosome 20, 62679962: 62679962
4 SOX18 NM_018419.2(SOX18): c.712G> T (p.Glu238*) single nucleotide variant Pathogenic rs1210062863 GRCh38 Chromosome 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

Sources for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....