HELIX
MCID: HLX001
MIFTS: 47

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 72 36 29 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 57 72
Helix 57 72
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 58
Abnormality of the Helix 29
Syndrome, Helix 39

Characteristics:

OMIM®:

57 (Updated 20-May-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 Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and liver, and related phenotypes are nephrolithiasis and polydipsia

UniProtKB/Swiss-Prot : 72 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 737)
# 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 prion disease 10.3
25 triiodothyronine receptor auxiliary protein 10.3
26 precursor t-cell acute lymphoblastic leukemia 10.3
27 neuroblastoma 10.3
28 t-cell lymphoblastic leukemia/lymphoma 10.3
29 immune deficiency disease 10.2
30 acute erythroid leukemia 10.2
31 47,xyy 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 dermatitis 10.2
40 glioblastoma 10.2
41 encephalopathy 10.2
42 papillomatosis, confluent and reticulated 10.2
43 herpes simplex 10.2
44 hepatitis c virus 10.2
45 diphtheria 10.2
46 epidermolysis bullosa 10.2
47 adenocarcinoma 10.2
48 scrapie 10.2
49 hypoxia 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 heat intolerance 31 HP:0002046
11 hypermagnesemia 31 HP:0002918
12 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-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 20-May-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 Pharmaceutical Solutions Phase 3
3 Ophthalmic Solutions Phase 3
4 Antifibrinolytic Agents Phase 3
5 Coagulants Phase 3
6 Hemostatics Phase 3
7
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
8
Iron Approved Phase 2 7439-89-6 23925 29936
9
Lenograstim Approved, Investigational Phase 2 135968-09-1
10
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
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 Antimitotic Agents Phase 2
15 Antirheumatic Agents Phase 2
16 Immunosuppressive Agents Phase 2
17 Chelating Agents Phase 2
18 Albumin-Bound Paclitaxel Phase 2
19 Mitogens Phase 2
20 Tubulin Modulators Phase 2
21 Immunologic Factors 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 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
11 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
12 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum - Feasibility, Long-term Lead Stability and Safety Completed NCT01609738
13 Corticotomy-assisted Slow Maxillary Expansion With Bone Allograft Assessed With Cone Beam Computed Tomography in Young Adults Completed NCT02574117
14 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
15 Auricular Acupressure for Hemodialysis Patients With Insomnia: Study Protocol for a Multi-centre Double-blind, Randomized Controlled Trial Completed NCT03015766
16 Hypothermia for Encephalopathy in Low Income Countries-Feasibility Completed NCT01760629
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 Timing on Lateral Crossbite Correction - a Randomized Study Recruiting NCT03353766
19 The Effect of Acupuncture for Insomnia in Breast Cancer Patients Undergoing Chemotherapy: A Randomized, Sham-Controlled Trial Recruiting NCT04144309
20 Implant Retained Rehabilitation With Surgical and Prosthetic Digital Workflow: A Randomized Clinical Trial Recruiting NCT04066309
21 Personalized Therapy Study - Attain Stability Quad Post-Approval Study Recruiting NCT04024943
22 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Recruiting NCT03931122
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, Liver, Breast, Bone, Eye, Kidney

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. 61 6 57
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 57 6
28686597 2017
3
A neutral polysaccharide with a triple helix structure from ginger: Characterization and immunomodulatory activity. 61
33610845 2021
4
Molecular dynamic simulation: Structural insights of multi-stranded curdlan in aqueous solution. 61
33766340 2021
5
A crucial residue in the hydrophobic core of the solenoid structure of leucine rich repeats. 61
33631375 2021
6
An amine-functionalized metal-organic framework and triple-helix molecular beacons as a sensing platform for miRNA ratiometric detection. 61
33773723 2021
7
Target enzymes are stabilized by AfrLEA6 and a gain of α-helix coincides with protection by a group 3 LEA protein during incremental drying. 61
33647452 2021
8
Corrigendum to "The Bmi-1 helix-turn and ring finger domains are required for Bmi-1 antagonism of (-) epigallocatechin-3-gallate suppression of skin cancer cell survival" [Cell Signaling 27 (2015) 1336-1344]. 61
33750671 2021
9
Conformational modifications of lysozyme caused by interaction with humic acid studied with spectroscopy. 61
33453531 2021
10
The transcription factor TaLAX1 interacts with Q to antagonistically regulate grain threshability and spike morphogenesis in bread wheat. 61
33521967 2021
11
Genome-wide identification of peanut PIF family genes and their potential roles in early pod development. 61
33631242 2021
12
Protein solubility, secondary structure and microstructure changes in two types of undenatured type II collagen under different gastrointestinal digestion conditions. 61
33243558 2021
13
Whey protein improves the stability of C-phycocyanin in acidified conditions during light storage. 61
33223303 2021
14
The role of alpha-helix on the structure-targeting drug design of amyloidogenic proteins. 61
33610597 2021
15
The Crystal Structure of the MHC Class I (MHC-I) Molecule in the Green Anole Lizard Demonstrates the Unique MHC-I System in Reptiles. 61
33637616 2021
16
Involvement of DNA methylation in regulating the accumulation of the aroma compound indole in tea (Camellia sinensis) leaves during postharvest processing. 61
33773659 2021
17
Altering CLC stoichiometry by reducing non-polar side-chains at the dimerization interface. 61
33617898 2021
18
Grap2 cyclin D interacting protein negatively regulates CREB‑binding protein, inhibiting fibroblast‑like synoviocyte growth. 61
33576455 2021
19
Fluorogenic aptamers resolve the flexibility of RNA junctions using orientation-dependent FRET. 61
33376189 2021
20
The myosin II coiled-coil domain atomic structure in its native environment. 61
33782130 2021
21
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
22
C-terminal troponin-I residues trap tropomyosin in the muscle thin filament blocked-state. 61
33714756 2021
23
Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation. 61
33516851 2021
24
Acute Microstructural Changes after ST-Segment Elevation Myocardial Infarction Assessed with Diffusion Tensor Imaging. 61
33560187 2021
25
Photochemical Electrocyclization of Poly(phenylacetylene)s: Unwinding Helices to Elucidate their 3D Structure in Solution. 61
33332770 2021
26
Resin-acid derivatives bind to multiple sites on the voltage-sensor domain of the Shaker potassium channel. 61
33683319 2021
27
Structural and kinetic investigations of the carboxy terminus of NADPH-cytochrome P450 oxidoreductase. 61
33556357 2021
28
Backbone chemical shift assignments for the SARS-CoV-2 non-structural protein Nsp9: intermediate (ms - μs) dynamics in the C-terminal helix at the dimer interface. 61
33392924 2021
29
Essential role of a carboxyl-terminal α-helix motif in the secretion of coagulation factor XI. 61
33421272 2021
30
Interplay between a Foldamer Helix and a Macrocycle in a Foldarotaxane Architecture. 61
33475210 2021
31
Helix pomatia albumen gland water soluble protein extract as powerful antiaging agent. 61
33454353 2021
32
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
33
Transcriptional integration of plant responses to iron availability. 61
33246334 2021
34
The MIR-Domain of PbbHLH2 Is Involved in Regulation of the Anthocyanin Biosynthetic Pathway in "Red Zaosu" (PyrusBretschneideri Rehd.) Pear Fruit. 61
33809693 2021
35
Attribution of NF-κB Activity to CHUK/IKKα-Involved Carcinogenesis. 61
33808757 2021
36
Crystal Structure of the Pneumococcal Vancomycin-Resistance Response Regulator DNA-Binding Domain. 61
33795535 2021
37
A novel β-hairpin peptide derived from the ARC repressor selectively interacts with the major groove of B-DNA. 61
33812270 2021
38
Immunity proteins of dual nuclease T6SS effectors function as transcriptional repressors. 61
33786997 2021
39
Characterization of pepcan-23 as pro-peptide of RVD-hemopressin (pepcan-12) and stability of hemopressins in mice. 61
33799079 2021
40
Collagen's enigmatic, highly conserved N-glycan has an essential proteostatic function. 61
33674390 2021
41
TBX3 promotes melanoma migration by transcriptional activation of ID1 which prevents activation of E-cadherin by MITF. 61
33744299 2021
42
A conserved cell division protein directly regulates FtsZ dynamics in filamentous and unicellular actinobacteria. 61
33729912 2021
43
Enhanced metastable state models of TAM kinase binding to cabozantinib explains the dynamic nature of receptor tyrosine kinases. 61
32070235 2021
44
TWIST1 induces phenotypic switching of vascular smooth muscle cells by downregulating p68 and microRNA-143/145. 61
33470057 2021
45
Predicting the stability of homotrimeric and heterotrimeric collagen helices. 61
33589786 2021
46
Ceramide-1-phosphate transfer protein (CPTP) regulation by phosphoinositides. 61
33781749 2021
47
Di-phosphorylated BAF shows altered structural dynamics and binding to DNA, but interacts with its nuclear envelope partners. 61
33744941 2021
48
DcTT8, a bHLH transcription factor, regulates anthocyanin biosynthesis in Dendrobium candidum. 61
33774465 2021
49
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development. 61
33799876 2021
50
Deciphering the Binding Interactions between Acinetobacter baumannii ACP and β-ketoacyl ACP Synthase III to Improve Antibiotic Targeting Using NMR Spectroscopy. 61
33805050 2021

Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

6
# 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) Deletion Likely pathogenic 974823 GRCh37: 13:96230232-96230232
GRCh38: 13:95577978-95577978

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

72
# 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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