MCID: HYP652
MIFTS: 23

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Nephrological 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 75 40
Glomerulonephritis with Sparse Hair and Telangiectases 57 53 75 29 6
Telangiectatic Membranoproliferative Glomerulonephritis 57 53 75
Hltrs 57 75
Glomerulonephritis Sparse Hair Telangiectases 73

Characteristics:

OMIM:

57
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:

32
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 : 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)

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 mandibular prognathia and global developmental delay

UniProtKB/Swiss-Prot : 75 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 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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

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

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

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:

41
Kidney, Testis

Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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 GRCh37 Chromosome 20, 62679962: 62679962
4 SOX18 NM_018419.2(SOX18): c.712G> T (p.Glu238*) single nucleotide variant Pathogenic 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

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74 UMLS via Orphanet
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