Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HLTRS MCID: HYP652 MIFTS: 23	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS) Categories: Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 137940

MeSH ⁴⁵ D005921 D007039 D008209 more

MedGen ⁴³ C1841989 C4317151

SNOMED-CT via HPO ⁷⁰ 109504005 111590001 224958001 more

UMLS ⁷⁴ C1841989

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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.

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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

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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	sparse eyelashes ³³		HP:0000653
28	freckling ³³		HP:0001480
29	epidermal hyperkeratosis ³³		HP:0007543
30	pulmonary lymphangiectasia ³³		HP:0006521
31	chronic kidney disease ³³		HP:0012622
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

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

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

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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

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

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

⁴²

Kidney, Testis

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Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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Genes for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SOX18	SRY-Box 18	Protein Coding	918.63	Molecular basis known ⁵⁸ Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)	12740761 24697860 2484451

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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

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Expression for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

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Pathways for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

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

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

Publications for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genes for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

Genes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (1 elite genes):

Variations for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome

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

Expression 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