HELIX
MCID: HLX001
MIFTS: 48

Helix Syndrome (HELIX)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome 57 58 73 36 29 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 57 73
Helix 57 73
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 58
Abnormality of the Helix 29
Syndrome, Helix 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
helix syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases


Summaries for Helix Syndrome

KEGG : 36 HELIX syndrome is characterized by hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. It has been reported that mutations in CLDN10 cause HELIX syndrome.

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), and among its related pathways/superpathways is Tight junction. The drugs Tranexamic Acid and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and breast, and related phenotypes are nephrolithiasis and polydipsia

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

More information from OMIM: 617671

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 696)
# Related Disease Score Top Affiliating Genes
1 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.4
2 question mark ears, isolated 11.2
3 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.0
4 auriculocondylar syndrome 3 11.0
5 parkinson disease 22, autosomal dominant 11.0
6 vascular helix of umbilical cord 11.0
7 ear without helix 10.9
8 familial woolly hair syndrome 10.9
9 deafness, conductive, with malformed external ear 10.9
10 hairy ears, y-linked 10.9
11 neurofibromatosis-noonan syndrome 10.9
12 preauricular tag, isolated, autosomal dominant, 1 10.9
13 spermatogenic failure 10 10.9
14 acrofrontofacionasal dysostosis 10.9
15 auriculo-condylar syndrome 10.9
16 kozlowski-krajewska syndrome 10.9
17 hand skill, relative 10.6
18 rapidly involuting congenital hemangioma 10.5
19 human immunodeficiency virus type 1 10.4
20 leukemia 10.4
21 brittle bone disorder 10.4
22 leukemia, acute lymphoblastic 10.4
23 t-cell acute lymphoblastic leukemia 10.3
24 triiodothyronine receptor auxiliary protein 10.3
25 prion disease 10.3
26 precursor t-cell acute lymphoblastic leukemia 10.3
27 t-cell lymphoblastic leukemia/lymphoma 10.3
28 neuroblastoma 10.3
29 47,xyy 10.3
30 immune deficiency disease 10.3
31 acute erythroid leukemia 10.2
32 retinoblastoma 10.2
33 pitt-hopkins syndrome 10.2
34 osteogenic sarcoma 10.2
35 pertussis 10.2
36 contact dermatitis 10.2
37 leukemia, t-cell, chronic 10.2
38 iron metabolism disease 10.2
39 glioblastoma 10.2
40 encephalopathy 10.2
41 dermatitis 10.2
42 papillomatosis, confluent and reticulated 10.2
43 herpes simplex 10.2
44 hypoxia 10.2
45 hepatitis c virus 10.2
46 diphtheria 10.2
47 epidermolysis bullosa 10.2
48 adenocarcinoma 10.2
49 scrapie 10.2
50 microphthalmia 10.1

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



Diseases related to Helix Syndrome

Symptoms & Phenotypes for Helix Syndrome

Human phenotypes related to Helix Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 31 very rare (1%) HP:0000787
2 polydipsia 31 HP:0001959
3 hypokalemia 31 HP:0002900
4 renal insufficiency 31 HP:0000083
5 dry skin 31 HP:0000958
6 hypohidrosis 31 HP:0000966
7 alacrima 31 HP:0000522
8 xerostomia 31 HP:0000217
9 hypocalciuria 31 HP:0003127
10 hypermagnesemia 31 HP:0002918
11 heat intolerance 31 HP:0002046
12 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

Drugs & Therapeutics for Helix Syndrome

Drugs for Helix Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 3 1197-18-8 5526
2 Ophthalmic Solutions Phase 3
3 Pharmaceutical Solutions Phase 3
4 Hemostatics Phase 3
5 Coagulants Phase 3
6 Antifibrinolytic Agents Phase 3
7
Lenograstim Approved, Investigational Phase 2 135968-09-1
8
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
9
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
10
Iron Approved Phase 2 7439-89-6 23925 29936
11
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
12
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
13 Liver Extracts Phase 2
14 Immunosuppressive Agents Phase 2
15 Albumin-Bound Paclitaxel Phase 2
16 Immunologic Factors Phase 2
17 Tubulin Modulators Phase 2
18 Mitogens Phase 2
19 Antirheumatic Agents Phase 2
20 Antimitotic Agents Phase 2
21 Chelating Agents Phase 2
22 Alkylating Agents Phase 2
23
tannic acid Approved 1401-55-4
24
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
25
Imidacloprid Vet_approved 105827-78-9 86418
26 Factor VIII
27 Anesthetics
28 Protective Agents
29 Antioxidants
30
Bilirubin 635-65-4 5280352

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 HELIX, a Double-masked Study of SYL1001 in Patients With Moderate to Severe Dry Eye Completed NCT03108664 Phase 3 SYL1001 ophthalmic solution;Vehicle opthalmic solution
2 The HeLiX (Hemorrhage During Liver Resection: traneXamic Acid) Trial: Tranexamic Acid (TXA) Versus Placebo to Reduce Perioperative Blood Transfusion in Patients Undergoing Liver Resection: A Randomized Controlled Trial Recruiting NCT02261415 Phase 3 Tranexamic acid (TXA);Normal saline
3 Electroacupuncture for Major Depression: A Pilot Study Completed NCT00071110 Phase 2
4 A Multicentric Controlled Phase I / IIb Study Evaluating the Safety and the Efficacy of in Vitro Expanded Peripheral Blood CD34+ Stem Cells Output by the StemXpand® Automated Process, and Injected in Patients With an Acute Myocardial Infarction and a Left Ventricle Ejection Fraction (LVEF) Remaining Below or Equal to 45% After PTCA and Stent(s) Implantation Versus Standard of Care. Recruiting NCT02669810 Phase 2 PROTHERACYTES
5 A Phase II Study of Neoadjuvant Carboplatin/Paclitaxel Followed by Dose-Dense Doxorubicin/Cyclophosphamide in Patients With Hormone Receptor Negative, HER2 Receptor Negative Breast Cancer Active, not recruiting NCT03301350 Phase 2 Carboplatin;Paclitaxel;Doxorubicin;Cyclophosphamide;Pegfilgrastim;Filgrastim
6 A Phase 2a, Open-Label, Two Stage Study: Stage A: Dose-Range Finder Study to Assess the Safety and Efficacy of Two Doses of Nerofe and Two Doses of Nerofe in Combination With Doxorubicin in Subjects With Acute Myelogenous Leukemia or High Risk Myelodysplastic Syndrome (AML/High Risk MDS). Stage B: Dose Confirmation Study to Assess the Safety and Efficacy of Nerofe or Nerofe in Combination With Doxorubicin in Subjects With AML/ High Risk MDS Withdrawn NCT03059615 Phase 2 Nerofe;Doxorubicin
7 A Phase 1b Trial of Selinexor Plus Doxorubicin in Advanced Soft Tissue Sarcomas (STS) Active, not recruiting NCT03042819 Phase 1 Selinexor;Doxorubicin
8 Evaluation of Myocardial Viability in Late Presentation Myocardial Infarction: Dual Energy Cardiac CT vs. Cardiac MRI. Unknown status NCT02360150
9 Is the Quad Helix More Efficient to Correct Mandibular Asymmetry Before Age 7? A Retrospective Comparative Study Completed NCT04429113
10 A Prospective Non-Interventional Study to Describe Health Related Quality of Life of Youth and Young Adults With Moderate or Severe Hemophilia A Using Recombinant Factor VIII (Helixate FS). Completed NCT01034904
11 A European, Prospective, Non-Interventional Study to Assess Health Related Quality of Life and to Identify Key Transitional Life Events in Patients With Moderate or Severe Haemophilia A Using Helixate NexGen Completed NCT01053715
12 Hypothermia for Encephalopathy in Low Income Countries-Feasibility Completed NCT01760629
13 Corticotomy-assisted Slow Maxillary Expansion With Bone Allograft Assessed With Cone Beam Computed Tomography in Young Adults Completed NCT02574117
14 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum - Feasibility, Long-term Lead Stability and Safety Completed NCT01609738
15 Auricular Acupressure for Hemodialysis Patients With Insomnia: Study Protocol for a Multi-centre Double-blind, Randomized Controlled Trial Completed NCT03015766
16 Analysis of Respiration-induced Deformities of the Visceral and Renal Arteries Before and After Stenting for a Endovascular Aortic Repair Procedure Using a Fenestrated Prothesis Completed NCT04724863
17 Evaluation of Patient and Physician Reported Reasons for Switching FVIII Replacement Therapies Completed NCT03405337 FVIII products;Conventional FVIII replacement therapies
18 The Effect of Acupuncture for Insomnia in Breast Cancer Patients Undergoing Chemotherapy: A Randomized, Sham-Controlled Trial Recruiting NCT04144309
19 Personalized Therapy Study - Attain Stability Quad Post-Approval Study Recruiting NCT04024943
20 Implant Retained Rehabilitation With Surgical and Prosthetic Digital Workflow: A Randomized Clinical Trial Recruiting NCT04066309
21 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Recruiting NCT03931122
22 The Effect of Timing on Lateral Crossbite Correction - a Randomized Study Recruiting NCT03353766
23 Carotid Artery Implant for Trapping Upstream Emboli for Preventing Stroke in Atrial Fibrillation Patients Active, not recruiting NCT03571789
24 Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss Active, not recruiting NCT02811549
25 Randomized Controlled Pivotal Trial of Autologous Bone Marrow Cells Using the CardiAMP Cell Therapy System in Patients With Refractory Angina Pectoris and Chronic Myocardial Ischemia (CardiAMP CMI Trial) Not yet recruiting NCT03455725
26 Can Transcutaneous Bilirubin (TcB) Measurements be Utilised to Assess Rebound Hyperbilirubinaemia Following Phototherapy in Neonates? Not yet recruiting NCT04719104

Search NIH Clinical Center for Helix Syndrome

Genetic Tests for Helix Syndrome

Genetic tests related to Helix Syndrome:

# Genetic test Affiliating Genes
1 Abnormality of the Helix 29
2 Helix Syndrome 29 CLDN10

Anatomical Context for Helix Syndrome

MalaCards organs/tissues related to Helix Syndrome:

40
Heart, Brain, Breast, Bone, Liver, Eye, Prostate

Publications for Helix Syndrome

Articles related to Helix Syndrome:

(show top 50) (show all 30003)
# Title Authors PMID Year
1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 57 6 61
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 57 6
28686597 2017
3
Protein solubility, secondary structure and microstructure changes in two types of undenatured type II collagen under different gastrointestinal digestion conditions. 61
33243558 2021
4
Whey protein improves the stability of C-phycocyanin in acidified conditions during light storage. 61
33223303 2021
5
Grap2 cyclin D interacting protein negatively regulates CREB‑binding protein, inhibiting fibroblast‑like synoviocyte growth. 61
33576455 2021
6
Value of serum collagen triple helix repeat containing-1(CTHRC1) and 14-3-3η protein compared to anti-CCP antibodies and anti-MCV antibodies in the diagnosis of rheumatoid arthritis. 61
32813981 2021
7
Juvenile hormone induces methoprene-tolerant 1 phosphorylation to increase interaction with Taiman in Helicoverpa armigera. 61
33450383 2021
8
Computational investigation of possible inhibitors of the winged-helix domain of MUS81. 61
33340918 2021
9
Solving the α-helix correspondence problem at medium-resolution Cryo-EM maps through modeling and 3D matching. 61
33338845 2021
10
Thermodynamic and kinetic stabilities of transmembrane helix bundles as revealed by single-pair FRET analysis: Effects of the number of membrane-spanning segments and cholesterol. 61
33316240 2021
11
Membrane Binding and Homodimerization of Atg16 Via Two Distinct Protein Regions is Essential for Autophagy in Yeast. 61
33484718 2021
12
Cutaneous tuberculosis of the pinna. 61
33251595 2021
13
Transcription Factor TWIST1 Integrates Dendritic Remodeling and Chronic Stress to Promote Depressive-like Behaviors. 61
33190845 2021
14
The MYB transcription factor Baymax1 plays a critical role in rice male fertility. 61
33089345 2021
15
Comparison of two arylsulfatases for targeted mass spectrometric analysis of microbiota-derived metabolites. 61
33342568 2021
16
The Arabidopsis transcription factor NAI1 activates the NAI2 promoter by binding to the G-box motifs. 61
33315514 2021
17
Bottom-up Construction of Xylan Nanocrystals in Dimethyl Sulfoxide. 61
33410657 2021
18
Opposing activities of IFITM proteins in SARS-CoV-2 infection. 61
33270927 2021
19
A pH-Induced Reversible Conformational Switch Able to Control the Photocurrent Efficiency in a Peptide Supramolecular System. 61
33107646 2021
20
Structural determinants of activation of the mineralocorticoid receptor: an evolutionary perspective. 61
32467588 2021
21
Intronic enhancer region governs transcript-specific Bdnf expression in rodent neurons. 61
33560226 2021
22
In Vitro Detected hly II Cytotoxin in a Strain of Staphylococcus aureus (BM S-2) and Plant-Derived Aromatic Components: a Molecular Docking Study. 61
33559758 2021
23
TCP Transcription Factors Suppress Cotyledon Trichomes by Impeding a Cell Differentiation-regulating Complex. 61
33576799 2021
24
Bone morphogenetic protein 9 (BMP9) directly induces Notch effector molecule Hes1 through the SMAD signaling pathway in osteoblasts. 61
33264418 2021
25
Evaluation of protein secondary structure from FTIR spectra improved after partial deuteration. 61
33534058 2021
26
Genome-wide identification of PbrbHLH family genes, and expression analysis in response to drought and cold stresses in pear (Pyrus bretschneideri). 61
33563216 2021
27
Structural and kinetic investigations of the carboxy terminus of NADPH-cytochrome P450 oxidoreductase. 61
33556357 2021
28
The apple bHLH transcription factor MdbHLH3 functions in determining the fruit carbohydrates and malate. 61
32757335 2021
29
Novel roles of the N1 loop and N4 alpha helical region of the Nipah Virus Fusion glycoprotein in modulating early and late steps of the membrane fusion cascade. 61
33568505 2021
30
Therapeutic delivery with V-amylose. 61
33586190 2021
31
Predicting the stability of homotrimeric and heterotrimeric collagen helices. 61
33589786 2021
32
The interplay between non-coding RNAs and Twist1 signaling contribute to human disorders. 61
33433357 2021
33
Integrative analysis identifies bHLH transcription factors as contributors to Parkinson's disease risk mechanisms. 61
33568722 2021
34
CHCHD4 (MIA40) and the mitochondrial disulfide relay system. 61
33599699 2021
35
Evidence for Dual Site Binding of Nile Blue A toward DNA: Spectroscopic, Thermodynamic, and Molecular Modeling Studies. 61
33553879 2021
36
Metal Coordinated Supramolecular Polymers from the Minimalistic Hybrid Peptide Foldamers. 61
33543831 2021
37
Optogenetic Analysis of Allosteric Control in Protein Tyrosine Phosphatases. 61
33450156 2021
38
Oxidative polymerization process of hydroxytyrosol catalysed by polyphenol oxidases or peroxidase: Characterization, kinetics and thermodynamics. 61
32919275 2021
39
The Role of the HLA Class I α2 Helix in Determining Ligand Hierarchy for the Killer Cell Ig-like Receptor 3DL1. 61
33441440 2021
40
A putative amphipathic alpha helix in hepatitis B virus small envelope protein plays a critical role in the morphogenesis of subviral particles. 61
33536177 2021
41
Ivy leaf (Hedera helix) for acute upper respiratory tract infections: an updated systematic review. 61
33523253 2021
42
miR-509-3p Suppresses Migration, Invasion and Epithelial-Mesenchymal Transition in Melanoma Cells by Targeting Collagen Triple Helix Repeat Containing 1. 61
33593721 2021
43
Oxidative stress and histopathological effect of zinc oxide nanoparticles on the garden snail Helix aspersa. 61
33155114 2021
44
Lysine 268 adjacent to transmembrane helix 5 of hamster P-glycoprotein is the major photobinding site of iodomycin in CHO B30 cells. 61
33565718 2021
45
Dynamical visualization of anisotropic electromagnetic re-emissions from a single metal micro-helix at THz frequencies. 61
33558576 2021
46
Structural Basis for α-Helix Mimicry and Inhibition of Protein-Protein Interactions with Oligourea Foldamers. 61
32935897 2021
47
Granulovirus PK-1 kinase activity relies on a side-to-side dimerization mode centered on the regulatory αC helix. 61
33579933 2021
48
Modulation of α1β3γ2 GABAA receptors expressed in X. laevis oocytes using a propofol photoswitch tethered to the transmembrane helix. 61
33593898 2021
49
Nonreciprocity of spin waves in the conical helix state. 61
33608462 2021
50
Preparation and conformational analysis of polyproline tri-helix macrocycle nanoscaffolds of varied sizes. 61
33605962 2021

Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN10 NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys) SNV Pathogenic 438636 rs759408749 13:96205151-96205151 13:95552897-95552897
2 CLDN10 NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu) SNV Pathogenic 438637 rs1555299783 13:96212645-96212645 13:95560391-95560391
3 CLDN10 NM_006984.5(CLDN10):c.2T>C (p.Met1Thr) SNV Pathogenic 438638 rs930701747 13:96205009-96205009 13:95552755-95552755
4 CLDN10 NM_006984.5(CLDN10):c.653del (p.Pro218fs) Deletion Likely pathogenic 974823 13:96230232-96230232 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 rs155529978

Expression for Helix Syndrome

Search GEO for disease gene expression data for Helix Syndrome.

Pathways for Helix Syndrome

Pathways related to Helix Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530

GO Terms for Helix Syndrome

Sources for Helix Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....