HELIX
MCID: HLX001
MIFTS: 48

Helix Syndrome (HELIX)

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

Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome 56 58 73 29 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 56 73
Helix 56 73
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 58
Abnormality of the Helix 29
Syndrome, Helix 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
helix syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases


Summaries for Helix Syndrome

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.

MalaCards based summary : Helix Syndrome, also known as hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia, is related to vascular helix of umbilical cord and ear without helix. An important gene associated with Helix Syndrome is CLDN10 (Claudin 10). The drugs Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and t cells, and related phenotypes are nephrolithiasis and renal insufficiency

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 652)
# Related Disease Score Top Affiliating Genes
1 vascular helix of umbilical cord 12.3
2 ear without helix 12.2
3 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 12.2
4 question mark ears, isolated 11.4
5 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.3
6 auriculocondylar syndrome 3 11.3
7 parkinson disease 22, autosomal dominant 11.3
8 deafness, conductive, with malformed external ear 11.1
9 hairy ears, y-linked 11.1
10 neurofibromatosis-noonan syndrome 11.1
11 preauricular tag, isolated, autosomal dominant, 1 11.1
12 spermatogenic failure 10 11.1
13 acrofrontofacionasal dysostosis 11.1
14 auriculo-condylar syndrome 11.1
15 kozlowski-krajewska syndrome 11.1
16 polycystic kidney disease 10.9
17 lung cancer 10.8
18 breast cancer 10.8
19 acute myocardial infarction 10.7
20 pancreatic ductal adenocarcinoma 10.6
21 hand skill, relative 10.6
22 rapidly involuting congenital hemangioma 10.5
23 hepatosplenic t-cell lymphoma 10.5
24 lymphocytic leukemia 10.5
25 human immunodeficiency virus type 1 10.4
26 leukemia 10.4
27 brittle bone disorder 10.4
28 leukemia, acute lymphoblastic 10.4
29 acute t cell leukemia 10.3
30 precursor t-cell acute lymphoblastic leukemia 10.3
31 prion disease 10.3
32 neuroblastoma 10.3
33 triiodothyronine receptor auxiliary protein 10.3
34 t-cell leukemia 10.3
35 erythroleukemia, familial 10.3
36 retinoblastoma 10.2
37 familial retinoblastoma 10.2
38 osteogenic sarcoma 10.2
39 contact dermatitis 10.2
40 glioblastoma multiforme 10.2
41 47,xyy 10.2
42 pitt-hopkins syndrome 10.2
43 pertussis 10.2
44 dermatitis 10.2
45 squamous cell carcinoma, head and neck 10.2
46 alcoholic hepatitis 10.2
47 papillomatosis, confluent and reticulated 10.2
48 hepatitis c virus 10.2
49 iron metabolism disease 10.2
50 herpes simplex 10.2

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 renal insufficiency 31 HP:0000083
3 polydipsia 31 HP:0001959
4 hypokalemia 31 HP:0002900
5 dry skin 31 HP:0000958
6 xerostomia 31 HP:0000217
7 hypohidrosis 31 HP:0000966
8 alacrima 31 HP:0000522
9 hypermagnesemia 31 HP:0002918
10 hypocalciuria 31 HP:0003127
11 heat intolerance 31 HP:0002046
12 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
polydipsia

Head And Neck Mouth:
xerostomia

Laboratory Abnormalities:
hypermagnesemia
hypocalciuria
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 Eyes:
alacrima

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

Drugs & Therapeutics for Helix Syndrome

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics Phase 4
3
Tranexamic Acid Approved Phase 3 1197-18-8 5526
4 Pharmaceutical Solutions Phase 3
5 Ophthalmic Solutions Phase 3
6 Liver Extracts Phase 3
7 Antifibrinolytic Agents Phase 3
8 Coagulants Phase 3
9 Hemostatics Phase 3
10
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
11
Bevacizumab Approved, Investigational Phase 2 216974-75-3
12
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
13
Daunorubicin Approved Phase 2 20830-81-3 30323
14
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
15
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
16
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
17
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
18
Lenograstim Approved, Investigational Phase 2 135968-09-1
19
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
20 Charcoal Phase 1, Phase 2
21 Anti-Infective Agents Phase 1, Phase 2
22 Carboxymethylcellulose Sodium Phase 1, Phase 2
23 Calendula Phase 1, Phase 2
24 Propolis Phase 1, Phase 2
25 Bee Products Phase 1, Phase 2
26 Angiogenesis Inhibitors Phase 2
27 Antineoplastic Agents, Immunological Phase 2
28 Myeloma Proteins Phase 2
29 Immunoglobulin A Phase 2
30 Immunoglobulins Phase 2
31 Immunoglobulin M Phase 2
32 Antibodies Phase 2
33 Paraproteins Phase 2
34 Hormones Phase 2
35 Alkylating Agents Phase 2
36 Immunologic Factors Phase 2
37 Chelating Agents Phase 2
38 Mitogens Phase 2
39 Albumin-Bound Paclitaxel Phase 2
40 Adjuvants, Immunologic Phase 2
41 Antimitotic Agents Phase 2
42 Immunosuppressive Agents Phase 2
43 Antirheumatic Agents Phase 2
44
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
45 Antibiotics, Antitubercular Phase 1
46 Topoisomerase Inhibitors Phase 1
47 Anti-Bacterial Agents Phase 1
48
Liposomal doxorubicin Phase 1 31703
49
Zoledronic Acid Approved 118072-93-8 68740
50
Triamcinolone Approved, Vet_approved 124-94-7 31307

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Estimation of MMP-8 Levels in GCF and Serum and Its Correlation With Wound Healing and Clinical Outcomes After Coronally Advanced Flap and Subepithelial Connective Tissue Graft for Root Coverage in Recession Defects: A CLINICO-BIOCHEMICAL STUDY Suspended NCT02863744 Phase 4
2 Investigation on Efficacy and Tolerability of Prospan® Hustenzäpfchen for the Symptomatic Treatment of Acute Bronchitis Accompanied by Coughing in Children Unknown status NCT01127048 Phase 3 Suppositories containing Ivy leaves dry extract;Placebo
3 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
4 Stimulation of Auricular Acupuncture-Point for Chemotherapy-Induced Nausea/Vomiting: A Prospective Randomized Double-blind Cross-over Study Completed NCT00360841 Phase 3
5 Randomized Controlled Pivotal Trial of Autologous Bone Marrow Mononuclear Cells Using the CardiAMP Cell Therapy System in Patients With Post Myocardial Infarction Heart Failure (CardiAMP Heart Failure Trial) Recruiting NCT02438306 Phase 3
6 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
7 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 Phase 3
8 Clinical Trial Phase I-II of Efficacy and Safety of Snail Slime and Natural Extracts for Healing in Diabetic Foot Ulcers Unknown status NCT03166423 Phase 1, Phase 2 MU001 patches (Investigational)
9 Phase II Study With Trabectedin (Yondelis®) in BRCA1 and BRCA2 Mutation Carrier and BRCAness Phenotype Advanced Ovarian Cancer Patients Unknown status NCT01772979 Phase 2 Trabectedin
10 Electroacupuncture for Major Depression: A Pilot Study Completed NCT00071110 Phase 2
11 A Phase II Study of Bevacizumab and Bortezomib in Patients With Relapsed Refractory Multiple Myeloma Completed NCT00464178 Phase 2 Bortezomilb
12 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
13 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 Recruiting NCT03059615 Phase 2 Nerofe;Doxorubicin
14 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 Recruiting NCT03301350 Phase 2 Carboplatin;Paclitaxel;Doxorubicin;Cyclophosphamide;Pegfilgrastim;Filgrastim
15 A Phase 1b Trial of Selinexor Plus Doxorubicin in Advanced Soft Tissue Sarcomas (STS) Active, not recruiting NCT03042819 Phase 1 Selinexor;Doxorubicin
16 Evaluation of Myocardial Viability in Late Presentation Myocardial Infarction: Dual Energy Cardiac CT vs. Cardiac MRI. Unknown status NCT02360150
17 The Relation Between Serum Ascorbic Acid Concentration and Preterm Premature Rupture of Membranes Unknown status NCT02635451
18 The Role of Regulatory T Cell in Patients With Type 1 Diabetes Mellitus Unknown status NCT00173641
19 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
20 Gene-expression Profile as Predictor of Central Nervous System Metastasis Development in Non-small Cell Lung Cancer: a Prospective Study Unknown status NCT00862173
21 Hypothermia for Encephalopathy in Low Income Countries-Feasibility Completed NCT01760629
22 Corticotomy-assisted Slow Maxillary Expansion With Bone Allograft Assessed With Cone Beam Computed Tomography in Young Adults Completed NCT02574117
23 Increased Density of Ghrelin-Expressing Cells in the Gastric Fundus and Body in Prader-Willi Syndrome Completed NCT01404624
24 Nautilus: Dynamic Craniotomy; New Surgical Technique and Preliminary Results Completed NCT01672619
25 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum - Feasibility, Long-term Lead Stability and Safety Completed NCT01609738
26 Auricular Acupressure for Hemodialysis Patients With Insomnia: Study Protocol for a Multi-centre Double-blind, Randomized Controlled Trial Completed NCT03015766
27 PRESSURE: Prospektive, Randomisierte Und Kontrollierte Untersuchung Von Lokaler Druckapplikation im Rahmen Der Keloid-Therapie Der Ohrmuschel Completed NCT02962518 Triamcinolone
28 Remodeling of Chromatin-Based Epigenetic Structures in Development and Aging Completed NCT00242255
29 Personalized CRT - Attain Stability Quad Post-Approval Study Recruiting NCT04024943
30 The Effect of Timing on Lateral Crossbite Correction - a Randomized Study Recruiting NCT03353766
31 Implant Retained Rehabilitation With Surgical and Prosthetic Digital Workflow: A Randomized Clinical Trial Recruiting NCT04066309
32 Clinical Evaluation of the Safety and Performance of RF and PEMF Following Liposuction Recruiting NCT03588702
33 Response of the Autonomic Nervous System to Auricular Stimulation of the Vagus Nerve (x) Recruiting NCT04130893
34 To Test the Efficacy of Novel Berberine Emulsification by TPGS or Quillaja Extract on the Absorption of Berberine Compared to Berberine Powder in Humans Recruiting NCT03438292
35 Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss Active, not recruiting NCT02811549
36 Prospective Observational Study of Neodent Implantable Devices of GM Line Active, not recruiting NCT03812276
37 Carotid Artery Implant for Trapping Upstream Emboli for Preventing Stroke in Atrial Fibrillation Patients Active, not recruiting NCT03571789
38 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Active, not recruiting NCT02387385
39 Assessment of the Impact of the Use of the ARA 2 Connected Toothbrush on Short-term Oral Hygiene During the Pre-operative Period of Alveolar Bone Grafts for Patients With Unilateral or Bilateral Cleft Lip and Palate. Oral Hygiene and Connected Toothbrush Before Alveolar Bone Graft for Cleft Lip and Palate. Not yet recruiting NCT03750708
40 CTHRC1 Apromising Biomarker in Rheumatoid Arthritis Diagnosis Not yet recruiting NCT04085471
41 Role of Sorcin and Annexin A3 in Breast Cancer Patients Not yet recruiting NCT03598660
42 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Not yet recruiting NCT03931122
43 The Role of CTHRC1 as a New Biomarker in Diagnosis of Rheumatoid Arthritis and Its Relation to the Disease Activity Not yet recruiting NCT04092244
44 The Effect of Acupuncture for Insomnia in Breast Cancer Patients Undergoing Chemotherapy: A Randomized, Sham-Controlled Trial Not yet recruiting NCT04144309
45 Effects of Capacitive Radiofrequency at the Dermis and Adipose Tissue in the Abdominal Region Not yet recruiting NCT04182542
46 Interventional Not Pharmacological Study to Investigate the Role of ADA in Multiple Sclerosis PatientsTreated With an Immune-Reconstitution Therapy (2-CdA) Not yet recruiting NCT04121065
47 Prevention of Epilepsy by Reducing Neonatal Encephalopathy Not yet recruiting NCT04054453

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, T Cells, Breast, Lung, Bone, Liver

Publications for Helix Syndrome

Articles related to Helix Syndrome:

(show top 50) (show all 30001)
# Title Authors PMID Year
1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 61 6 56
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 56 6
28686597 2017
3
Artificial nanozyme based on platinum nanoparticles anchored metal-organic frameworks with enhanced electrocatalytic activity for detection of telomeres activity. 61
31739109 2020
4
Identification of Key Pro-Survival Proteins in Isolated Colonic Goblet Cells of Winnie, a Murine Model of Spontaneous Colitis. 61
31504521 2020
5
Phospho-mutant activity assays provide evidence for alternative phospho-regulation pathways of the transcription factor FER-LIKE IRON DEFICIENCY-INDUCED TRANSCRIPTION FACTOR. 61
31487399 2020
6
Light-responsive vesicles for enantioselective release of chiral drugs prepared from a supra-amphiphilic M-helix. 61
31799973 2020
7
Photochemical characterization of flavobacterial rhodopsin: The importance of the helix E region for heat stability. 61
31669491 2020
8
A simple fluorescent strategy based on triple-helix molecular switch for sensitive detection of chloramphenicol. 61
31374352 2020
9
Selective apoptosis-inducing activity of synthetic hydrocarbon-stapled SOS1 helix with d-amino acids in H358 cancer cells expressing KRASG12C. 61
31706640 2020
10
Unfolding and partial refolding of a cellulase from the SDS-denatured state: From β-sheet to α-helix and back. 61
31525408 2020
11
Signal-switchable lab-on-paper photoelectrochemical aptasensing system integrated triple-helix molecular switch with charge separation and recombination regime of type-II CdTe@CdSe core-shell quantum dots. 61
31654824 2020
12
Nuclear magnetic resonance solution structure of Pisum sativum defensin 2 provides evidence for the presence of hydrophobic surface-clusters. 61
31294889 2020
13
Atomistic basis of opening and conduction in mammalian inward rectifier potassium (Kir2.2) channels. 61
31744859 2020
14
Effect of stress on the molecular structure and mechanical properties of supercontracted spider dragline silks. 61
31789330 2020
15
G protein-coupled receptors of class A harness the energy of membrane potential to increase their sensitivity and selectivity. 61
31449800 2019
16
Dynamic Expression and New Functions of Early B Cell Factor 2 in Cerebellar Development. 61
31273610 2019
17
Characterization of the copper-sensing transcriptional regulator CopR from the hyperthermophilic archeaon Thermococcus onnurineus NA1. 61
31676935 2019
18
Atomistic insight into the kinetic pathways for Watson-Crick to Hoogsteen transitions in DNA. 61
31665440 2019
19
Tomato bHLH132 Transcription Factor Controls Growth and Defense and Is Activated by Xanthomonas euvesicatoria Effector XopD During Pathogenesis. 61
31322482 2019
20
Arabidopsis immunity regulator EDS1 in a PAD4/SAG101-unbound form is a monomer with an inherently inactive conformation. 61
31550533 2019
21
A Positive Feedback Loop Comprising LHW-TMO5 and Local Auxin Biosynthesis Regulates Initial Vascular Development in Arabidopsis Roots. 61
31392340 2019
22
Role of the N-Terminal Transmembrane Helix Contacts in the Activation of FGFR3. 61
31804721 2019
23
A Novel Long-Range n to π* Interaction Secures the Smallest known α-Helix in Water. 61
31625253 2019
24
A Spiral-Helix (3D) Tubing Array That Ensures Ultrahigh-Throughput Single-Cell Sampling. 61
31724393 2019
25
Giant caloric effects enhanced by the helix polarization at the 180° domain wall in tetragonal BaTiO3. 61
31434066 2019
26
Effect of terminal arrangement of tryptophan on biological activity of symmetric α-helix-forming peptides. 61
31442359 2019
27
Trismaleimide Dendrimers: Helix-to-Superhelix Supramolecular Transition Accompanied by White-Light Emission. 61
31545878 2019
28
Ba4(BS3S)2S4: a new thioborate with unprecedented [BS3-S] and [S4] fundamental building blocks. 61
31761918 2019
29
ASCL1 is a MYCN- and LMO1-dependent member of the adrenergic neuroblastoma core regulatory circuitry. 61
31819055 2019
30
COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase. 61
31851937 2019
31
Differential presentation of a single antimicrobial peptide is sufficient to identify LPS from distinct bacterial samples. 61
31687669 2019
32
The Tryptophan-Rich Motif of HIV-1 gp41 Can Interact with the N-Terminal Deep Pocket Site: New Insights into the Structure and Function of gp41 and Its Inhibitors. 61
31619552 2019
33
Electrocardiographic characteristics of distal His bundle pacing in a patient with left bundle branch block. 61
31696523 2019
34
Prognostic Value of TWIST1 and EZH2 Expression in Colon Cancer. 61
31823218 2019
35
Nucleation inhibition of Huntingtin protein (htt) by polyproline PPII helices: a potential interaction with the N-terminal α-helical region of htt. 61
31814404 2019
36
Evolutionary conservation of the intrinsic disorder-based Radical-Induced Cell Death1 hub interactome. 61
31831797 2019
37
Helix N-Cap Residues Drive the Acid Unfolding That Is Essential in the Action of the Toxin Colicin A. 61
31686499 2019
38
Integrating Competency-Based Didactic and Experiential Global Health Learning for Dental Students: The Global Health Learning Helix Model. 61
31818984 2019
39
X-ray Structures of the Post-fusion 6-Helix Bundle of the Human Syncytins and their Functional Implications. 61
31711961 2019
40
A multifunnel energy landscape encodes the competing α-helix and β-hairpin conformations for a designed peptide. 61
31854397 2019
41
Both beta sheet breaker and alpha helix forming pentapeptide inhibits protein fibrillation: Implication for the treatment of amyloid disorders. 61
31811850 2019
42
Structural basis for shieldin complex subunit 3-mediated recruitment of the checkpoint protein REV7 during DNA double-strand break repair. 61
31796627 2019
43
The structures and gating mechanism of human calcium homeostasis modulator 2. 61
31776515 2019
44
PepPro: A Nonredundant Structure Data Set for Benchmarking Peptide-Protein Computational Docking. 61
31793016 2019
45
Ambidextrous α,γ-Hybrid Peptide Foldamers. 61
31670907 2019
46
Flexibility and thermal dynamic stability increase of dsDNA induced by Ru(bpy)2dppz2+ based on AFM and HRM technique. 61
31384815 2019
47
Organocatalytic Access to a cis-Cyclopentyl-γ-amino Acid: An Intriguing Model of Selectivity and Formation of a Stable 10/12-Helix from the Corresponding γ/α-Peptide. 61
31820966 2019
48
Incorporation of Aza-Glycine into Collagen Peptides. 61
31724856 2019
49
Ultrastructure analysis of white spot syndrome virus (WSSV). 61
31811441 2019
50
Folding and stability of recombinant azoreductase enzyme from Chromobacterium violaceum. 61
31615666 2019

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

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

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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