Helix Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome ⁵⁷ ⁵⁸ ⁷³ ²⁸ ⁵ ³⁸

Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia ⁵⁷ ⁷³

Helix ⁵⁷ ⁷³

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome ⁵⁸

Characteristics:

Inheritance:

Helix Syndrome: Autosomal recessive ⁵⁷

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: Autosomal recessive ⁵⁸

Prevelance:

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: <1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: Adolescent,Adult,Childhood ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Skin diseases Endocrine diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare eye diseases

Rare renal diseases

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Summaries for Helix Syndrome

Orphanet: ⁵⁸ A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.

MalaCards based summary: Helix Syndrome, also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia, is related to t-cell immunodeficiency, congenital alopecia, and nail dystrophy and question mark ears, isolated. An important gene associated with Helix Syndrome is CLDN10 (Claudin 10). Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are nephrolithiasis and hyperparathyroidism

OMIM®: ⁵⁷ HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018). (617671) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disease characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.

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Related Diseases for Helix Syndrome

Diseases related to Helix Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 943)

#	Related Disease	Score
1	t-cell immunodeficiency, congenital alopecia, and nail dystrophy	11.3
2	question mark ears, isolated	11.2
3	deafness, conductive, with malformed external ear	11.0
4	oculoauricular syndrome	11.0
5	auriculocondylar syndrome 3	11.0
6	parkinson disease 22, autosomal dominant	11.0
7	kozlowski-krajewska syndrome	11.0
8	vascular helix of umbilical cord	11.0
9	ear without helix	11.0
10	alkaptonuria	10.9
11	aural atresia, multiple congenital anomalies, and mental retardation	10.9
12	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	10.9
13	wolff mental retardation syndrome	10.9
14	multiple congenital anomalies-hypotonia-seizures syndrome 2	10.9
15	hairy ears, y-linked	10.9
16	neurofibromatosis-noonan syndrome	10.9
17	preauricular tag, isolated, autosomal dominant, 1	10.9
18	spermatogenic failure 10	10.9
19	x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	10.9
20	chromosome 4p duplication	10.9
21	pinnae fistula or cyst	10.9
22	chronic bilirubin encephalopathy	10.7
23	hand skill, relative	10.6
24	charge syndrome	10.6
25	rapidly involuting congenital hemangioma	10.5
26	leukemia	10.5
27	amyloidosis	10.5
28	human immunodeficiency virus type 1	10.4
29	leukemia, acute lymphoblastic	10.4
30	t-cell acute lymphoblastic leukemia	10.4
31	brittle bone disorder	10.4
32	prion disease	10.4
33	hypoalphalipoproteinemia, primary, 2	10.4
34	47 xxx syndrome	10.4
35	twin-reversed arterial perfusion sequence	10.3
36	immune deficiency disease	10.3
37	turner syndrome	10.3
38	fanconi anemia, complementation group e	10.3
39	catastrophic antiphospholipid syndrome	10.3
40	cryopyrin-associated periodic syndrome	10.3
41	precursor t-cell acute lymphoblastic leukemia	10.3
42	breast cancer	10.3
43	aspergillosis	10.3
44	iron metabolism disease	10.3
45	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.3
46	common cold	10.3
47	neuroblastoma	10.3
48	acute erythroid leukemia	10.2
49	erythroleukemia	10.2
50	cholera	10.2

Graphical network of the top 20 diseases related to Helix Syndrome:

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Symptoms & Phenotypes for Helix Syndrome

Human phenotypes related to Helix Syndrome:

³⁰ (show all 14)

#	Description	HPO Frequency	HPO Source Accession
1	nephrolithiasis ³⁰	Very rare (1%)	HP:0000787
2	hyperparathyroidism ³⁰	Very rare (1%)	HP:0000843
3	alacrima ³⁰	Very rare (1%)	HP:0000522
4	xerostomia ³⁰	Very rare (1%)	HP:0000217
5	anhidrosis ³⁰	Very rare (1%)	HP:0000970
6	hypermagnesemia ³⁰	Very rare (1%)	HP:0002918
7	polydipsia ³⁰		HP:0001959
8	hypokalemia ³⁰		HP:0002900
9	renal insufficiency ³⁰		HP:0000083
10	dry skin ³⁰		HP:0000958
11	hypohidrosis ³⁰		HP:0000966
12	hypocalciuria ³⁰		HP:0003127
13	heat intolerance ³⁰		HP:0002046
14	polyuria ³⁰		HP:0000103

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Abdomen Gastrointestinal:
polydipsia

Head And Neck Eyes:
alacrima

Laboratory Abnormalities:
hypocalciuria
hypermagnesemia
hypokalemia (in adults)
low urinary magnesium
reduced 25-hydroxy vitamin d levels

Head And Neck Teeth:
enamel wear, severe

Skin Nails Hair Skin Histology:
slightly thickened stratum corneum
follicular ostial dilation
basket-weave keratin
increased number of dilated eccrine sweat glands
acantholytic appearance of epithelial cells of eccrine sweat glands

Skin Nails Hair Skin:
dry skin
heat intolerance
generalized hypohidrosis or anhidrosis
fine scaling (predominantly on arms and knees)

Head And Neck Mouth:
xerostomia

Genitourinary Kidneys:
polyuria
nephrolithiasis (in some patients)
renal failure, mild
renal nacl wasting
extensive nonspecific fibrosis seen on renal biopsy (in 1 patient)
more

Cardiovascular Vascular:
low to low-normal blood pressure

Endocrine Features:
normal to high plasma aldosterone
elevated plasma renin levels
elevated parathyroid hormone levels

Clinical features from OMIM®:

617671 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Helix Syndrome

Search Clinical Trials, NIH Clinical Center for Helix Syndrome

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Genetic Tests for Helix Syndrome

Genetic tests related to Helix Syndrome:

#	Genetic test	Affiliating Genes
1	Helix Syndrome ²⁸	CLDN10

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Anatomical Context for Helix Syndrome

Organs/tissues related to Helix Syndrome:

MalaCards : Eye, Skin, Skeletal Muscle, Smooth Muscle, Kidney, Bone Marrow, Heart

ODiseA: Kidney

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Publications for Helix Syndrome

Articles related to Helix Syndrome:

(show top 50) (show all 30005)

#	Title	Authors	PMID	Year
1	Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. ⁶² ⁵⁷ ⁵	Hadj-Rabia S...El-Shanti H	28771254	2018
2	Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. ⁵⁷ ⁵	Klar J...Dahl N	28686597	2017
3	A highly accumulated secretory protein from cotton bollworm interacts with basic helix-loop-helix transcription factors to dampen plant defense. ⁶²	Chen X...Mao YB	36131553	2023
4	An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65. ⁶²	Uppal S...Redmond TM	36265895	2023
5	α-proton Chemical Shift Index and Amide Proton Chemical Shift Temperature Coefficient of Melittin in Methanol: Indicators for a Helix Structure and an Intra-Molecular Hydrogen Bond? ⁶²	Miura Y	36266498	2022
6	Design and synthesis of a tetracyclic tripeptide mimetic frozen in a polyproline type II (PP2) helix conformation. ⁶²	Klein MT...Schmalz HG	36385673	2022
7	Hierarchical nano-helix as a new reinforcing unit for simultaneously ultra-strong and super-tough alginate fibers. ⁶²	Liu Y...Sui K	36184164	2022
8	Cyclic helix B peptide ameliorated the sepsis-induced injury in human HPMEC cells through regulating NF-κB. ⁶²	Liu W...Ju M	36332815	2022
9	Correction: α-proton Chemical Shift Index and Amide Proton Chemical Shift Temperature Coefficient of Melittin in Methanol: Indicators for a Helix Structure and an Intra-Molecular Hydrogen Bond? ⁶²	Miura Y	36355261	2022
10	An adjustable amyloid-β oligomers aptasensor based on the synergistic effect of self-enhanced metal-organic gel luminophore and triple-helix DNA system. ⁶²	Wang X...Yuan W	36174865	2022
11	Filament assembly of the C. elegans lamin in the absence of helix 1A. ⁶²	de Leeuw R...Medalia O	35130129	2022
12	Propensities of Some Amino Acid Pairings in α-Helices Vary with Length. ⁶²	Nacar C	36169766	2022
13	Lysine 101 in the CRAC Motif in Transmembrane Helix 2 Confers Cholesterol-Induced Thermal Stability to the Serotonin1A Receptor. ⁶²	Sarkar P...Chattopadhyay A	35986776	2022
14	Full opening of helix bundle crossing does not lead to NaK channel activation. ⁶²	Kurauskas V...Henzler-Wildman K	36326620	2022
15	An engineered 5-helix bundle derived from SARS-CoV-2 S2 pre-binds sarbecoviral spike at both serological- and endosomal-pH to inhibit virus entry. ⁶²	Lin X...Lu G	35757908	2022
16	Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families. ⁶²	Ohata Y...Ozono K	36407415	2022
17	Molecular design and rational optimization of synergistic effect between the two wings of a roughly orthogonal cation-π-π stacking system at nasopharyngeal carcinoma YAP1-TEAD4 parallel Helix-Helix interaction interface. ⁶²	Zhu H...Mao X	36326001	2022
18	Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome. ⁶²	Olson AN...Dinman JD	36470424	2022
19	Lipid and Lipidation in Membrane Fusion. ⁶²	Sardar A...Tarafdar PK	36102950	2022
20	Investigating the allosteric response of the PICK1 PDZ domain to different ligands with all-atom simulations. ⁶²	Stevens AO...He Y	36251217	2022
21	Effects of Gly Residue and Cholesterol on the GXXXG-Mediated Parallel Association of Transmembrane Helices: A Single-Pair FRET Study. ⁶²	Yano Y...Matsuzaki K	36229427	2022
22	Prompting immunostimulatory activity of curdlan with grafting methoxypolyethylene glycol. ⁶²	Luo L...Tang S	36183755	2022
23	Temperature-dependent re-alignment of the short multifunctional peptide BP100 in membranes revealed by solid-state NMR and molecular dynamics simulations. ⁶²	Strandberg E...Ulrich AS	36454659	2022
24	ROS and calcium oscillations are required for polarized root hair growth. ⁶²	Zhang X...Zhang Q	35938584	2022
25	Novel mycoplasma nucleomodulin MbovP475 decreased cell viability by regulating expression of CRYAB and MCF2L2. ⁶²	Zhao G...Guo A	36121023	2022
26	The DdrR Coregulator of the Acinetobacter baumannii Mutagenic DNA Damage Response Potentiates UmuDAb Repression of Error-Prone Polymerases. ⁶²	Cook D...Hare JM	36194009	2022
27	A conserved signaling pathway activates bacterial CBASS immune signaling in response to DNA damage. ⁶²	Lau RK...Corbett KD	36156805	2022
28	Stretching-Induced Conformational Transition of [3-13C]Ser- and [3-13C]Tyr-Antheraea yamamai Silk Fibroin before Spinning Investigated with 13C Solid-State NMR Spectroscopy. ⁶²	Asakura T...Naito A	36449573	2022
29	Next-generation retinoid X receptor agonists increase ATRA signaling in organotypic epithelium cultures and have distinct effects on receptor dynamics. ⁶²	Melo N...Renfrow MB	36436565	2022
30	Numerical simulation and parameter optimization of earth auger in hilly area using EDEM software. ⁶²	Wang G...Jin Z	36376347	2022
31	Endoscopic tacking system as a novel tissue approximation measure for very large EMR defects. ⁶²	Keihanian T...Jawaid SA	36407047	2022
32	Functional Analysis of EspM, an ESX-1-Associated Transcription Factor in Mycobacterium marinum. ⁶²	Sanchez KG...Champion PA	36448785	2022
33	X-ray scattering and molecular dynamics simulations reveal the secondary structure of κ-carrageenan in the solution state. ⁶²	Westberry BP...Williams MAK	36088000	2022
34	Single-helical formyl β-glucan effectively deliver CpG DNA with poly(dA) to macrophages for enhanced vaccine effects. ⁶²	Xu Y...Wang Y	36336158	2022
35	Allosteric mechanism for SL RNA recognition by polypyrimidine tract binding protein RRM1: An atomistic MD simulation and network-based study. ⁶²	Han Z...Li C	36058398	2022
36	Point Mutations in TbpA Abrogate Human Transferrin Binding in Neisseria gonorrhoeae. ⁶²	Greenawalt AN...Cornelissen CN	36321833	2022
37	Secondary Structure Characterization of Glucagon Products by Circular Dichroism and Nuclear Magnetic Resonance Spectroscopy. ⁶²	Bao Z...Zhang JY	36431905	2022
38	Transglutaminase modified type A gelatin gel: The influence of intra-molecular and inter-molecular cross-linking on structure-properties. ⁶²	Mao L...Zhang Y	35809550	2022
39	Voltage-sensor movements in the Eag Kv channel under an applied electric field. ⁶²	Mandala VS...MacKinnon R	36331999	2022
40	Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family. ⁶²	Sun X...Wu D	36343253	2022
41	Single substitution in α-helix of active center enhanced thermostability of Aspergillus awamori exo-inulinase. ⁶²	Dotsenko A...Sinitsyn A	36473387	2022
42	Strand 1A variant in neuroserpin shows increased aggregation and no loss of inhibition: Implication in ameliorating polymerization to retain activity. ⁶²	Ansari S...Jairajpuri MA	36408789	2022
43	Potent Anti-Inflammatory Effects of a Helix-to-Helix Peptide against Pseudomonas aeruginosa Endotoxin-Mediated Sepsis. ⁶²	Son H...Lee JR	36421317	2022
44	Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation. ⁶²	Kee TR...Woo JA	35786718	2022
45	Structural basis of direct and inverted DNA sequence repeat recognition by helix-turn-helix transcription factors. ⁶²	Fernandez-Lopez R...Moncalian G	36370103	2022
46	The basic helix-loop-helix transcription factors MYC1 and MYC2 have a dual role in the regulation of constitutive and stress-inducible specialized metabolism in tomato. ⁶²	Swinnen G...Goossens A	35838067	2022
47	Structural basis for NaV1.7 inhibition by pore blockers. ⁶²	Zhang J...Jiang D	36424527	2022
48	Effects of different mechanical processes on the structural and powdery properties of insoluble undenatured type II collagen. ⁶²	Wang Y...Gao Y	36462358	2022
49	Structures of the R-type human Cav2.3 channel reveal conformational crosstalk of the intracellular segments. ⁶²	Yao X...Yan N	36446785	2022
50	Polymorphic Malignant Melanoma (PMM) of the Left Helix: Case Report with Clinical-Pathological Correlations. ⁶²	Cazzato G...Resta L	36359557	2022

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Genes for Helix Syndrome

Genes related to Helix Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CLDN10	Claudin 10	Protein Coding	1665.86	Molecular basis known ⁵⁷ Pathogenic/Likely pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders Publications (show sections)	28686597 28771254 28674042

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Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CLDN10	NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)	SNV	Pathogenic	438636	rs759408749	GRCh37: 13:96205151-96205151 GRCh38: 13:95552897-95552897
2	CLDN10	NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)	SNV	Pathogenic	438637	rs1555299783	GRCh37: 13:96212645-96212645 GRCh38: 13:95560391-95560391
3	CLDN10	NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)	SNV	Pathogenic	438638	rs930701747	GRCh37: 13:96205009-96205009 GRCh38: 13:95552755-95552755
4	CLDN10	NM_006984.5(CLDN10):c.653del (p.Pro218fs)	DEL	Pathogenic/Likely Pathogenic	974823	rs2043960821	GRCh37: 13:96230232-96230232 GRCh38: 13:95577978-95577978

UniProtKB/Swiss-Prot genetic disease variations for Helix Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	CLDN10	p.Asn48Lys	VAR_080053	rs759408749
2	CLDN10	p.Ser131Leu	VAR_080054	rs1555299783

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Expression for Helix Syndrome

Search GEO for disease gene expression data for Helix Syndrome.

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Pathways for Helix Syndrome

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GO Terms for Helix Syndrome

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Sources for Helix Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

HELIX MCID: HLX001 MIFTS: 43	Helix Syndrome (HELIX) Categories: Endocrine diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Helix Syndrome (HELIX)

Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Helix Syndrome

Related Diseases for Helix Syndrome

Diseases related to Helix Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Helix Syndrome:

Symptoms & Phenotypes for Helix Syndrome

Human phenotypes related to Helix Syndrome:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Helix Syndrome

Genetic Tests for Helix Syndrome

Genetic tests related to Helix Syndrome:

Anatomical Context for Helix Syndrome

Organs/tissues related to Helix Syndrome:

Publications for Helix Syndrome

Articles related to Helix Syndrome:

Genes for Helix Syndrome

Genes related to Helix Syndrome (1 elite genes):

Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Helix Syndrome:

Expression for Helix Syndrome

Pathways for Helix Syndrome

GO Terms for Helix Syndrome

Sources for Helix Syndrome