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

HLTRS MCID: HYP652 MIFTS: 34	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS) Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications 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 ⁵⁷ ¹² ⁵⁸ ⁷³ ²⁹ ⁶ ¹⁵ ³⁹

Telangiectatic Membranoproliferative Glomerulonephritis ⁵⁷ ¹² ²⁰ ⁷³

Glomerulonephritis with Sparse Hair and Telangiectases ⁵⁷ ¹² ²⁰ ⁷³

Hltrs ⁵⁷ 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®:

⁵⁷ (Updated 05-Mar-2021)

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Nephrological diseases Skin diseases Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare renal diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0111360

OMIM® ⁵⁷ 137940

MeSH ⁴⁴ D005921 D007039 D008209 more

Orphanet ⁵⁸ ORPHA69735

MedGen ⁴¹ C1841989 C4317151

UMLS ⁷¹ 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) (Updated 05-Mar-2021)

MalaCards based summary : Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome, also known as telangiectatic membranoproliferative glomerulonephritis, 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 testis, kidney and skin, 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.

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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	31.8	TCEA2 SOX7 SOX18
2	astigmatism	9.7	TRIM42 CRYAA

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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®:

⁵⁷ (Updated 05-Mar-2021)

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:
developmental delay, 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 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased influenza A H1N1 (A/WSN/33) virus numbers	GR00195-A-2	8.62	CRYAA TRIM60

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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	Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome 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:

⁴⁰

Testis, Kidney, Skin

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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. ⁶¹ ⁵⁷ ⁶	Moalem S...Chitayat D	24697860	2015
2	Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. ⁵⁷ ⁶	Irrthum A...Vikkula M	12740761	2003
3	Cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis. A new case of a newly recognized entity. ⁶ ⁵⁷	Proesmans W...Van Damme B	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. ⁵⁷	Hosur V...Shultz LD	23301070	2013
5	Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? ⁶	Glade C...Steijlen PM	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. ⁵⁷	Shultz LD...Schlager G	1836514	1991
7	Dominantly inherited glomerulonephritis and an unusual skin disease. ⁵⁷	Sherwood MC...Dillon MJ	3435166	1987
8	R-propranolol is a small molecule inhibitor of the SOX18 transcription factor in a rare vascular syndrome and hemangioma. ⁶¹	Overman J...Francois M	31358114	2019
9	Strategy for detecting cellular transcripts promoted by human endogenous long terminal repeats: identification of a novel gene (CDC4L) with homology to yeast CDC4. ⁶¹	Feuchter AE...Mager DL	1505956	1992

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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	PubMed IDs
1	SOX18	SRY-Box Transcription Factor 18	Protein Coding	1374.77	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	12740761
2	CRYAA	Crystallin Alpha A	Protein Coding	8.5	DISEASES inferred ¹⁵ ¹⁵
3	TCEA2	Transcription Elongation Factor A2	Protein Coding	8.24	GeneCards inferred via : Variants (show sections)
4	GPR148	G Protein-Coupled Receptor 148	Protein Coding	6.76	DISEASES inferred ¹⁵
5	TRIM35	Tripartite Motif Containing 35	Protein Coding	6.37	DISEASES inferred ¹⁵
6	TRIM60	Tripartite Motif Containing 60	Protein Coding	6.01	DISEASES inferred ¹⁵
7	SOX7	SRY-Box Transcription Factor 7	Protein Coding	5.69	DISEASES inferred ¹⁵
8	TRIM42	Tripartite Motif Containing 42	Protein Coding	5.6	DISEASES inferred ¹⁵
9	CLEC10A	C-Type Lectin Domain Containing 10A	Protein Coding	5.37	DISEASES inferred ¹⁵
10	RNF207	Ring Finger Protein 207	Protein Coding	5.28	DISEASES inferred ¹⁵

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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	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SOX18	NM_018419.3(SOX18):c.310G>C (p.Ala104Pro)	SNV	Pathogenic	8000	rs28936692	20:62680560-62680560	20:64049207-64049207
2	SOX18	NM_018419.3(SOX18):c.283T>A (p.Trp95Arg)	SNV	Pathogenic	8001	rs28936693	20:62680587-62680587	20:64049234-64049234
3	SOX18	NM_018419.3(SOX18):c.720C>A (p.Cys240Ter)	SNV	Pathogenic	8002	rs74315430	20:62679954-62679954	20:64048601-64048601
4	SOX18	NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)	SNV	Pathogenic	162093	rs794728015	20:62680193-62680193	20:64048840-64048840
5	SOX18	NM_018419.3(SOX18):c.712G>T (p.Glu238Ter)	SNV	Pathogenic	433539	rs1210062863	20:62679962-62679962	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

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

#	Name	GO ID	Score	Top Affiliating Genes
1	zinc ion binding	GO:0008270	9.02	TRIM60 TRIM42 TRIM35 TCEA2 RNF207

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⁷⁴ Wikipedia

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:

Orphanet epidemiological data:

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®:

GenomeRNAi Phenotypes related to Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome according to GeneCards Suite gene sharing:

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

Articles related to 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

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

Sources for Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome