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

MCID: HYP652 MIFTS: 23	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome Categories: Genetic diseases, Rare diseases, Immune diseases, Nephrological diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 137940

MedGen ⁴² C4317151 C1841989

MeSH ⁴⁴ D005921 D007039 D008209 more

UMLS ⁷³ C1841989

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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.

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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	11.5

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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

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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 ²⁹	SOX18

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

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

⁴¹

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	1018.71	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ 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		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

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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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