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 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



autosomal recessive


helix syndrome:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare eye diseases
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, t cells and brain, and related phenotypes are nephrolithiasis and polydipsia

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 651)
# 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 familial woolly hair syndrome 11.5
5 question mark ears, isolated 11.4
6 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.3
7 auriculocondylar syndrome 3 11.3
8 parkinson disease 22, autosomal dominant 11.3
9 deafness, conductive, with malformed external ear 11.1
10 hairy ears, y-linked 11.1
11 neurofibromatosis-noonan syndrome 11.1
12 preauricular tag, isolated, autosomal dominant, 1 11.1
13 spermatogenic failure 10 11.1
14 acrofrontofacionasal dysostosis 11.1
15 auriculo-condylar syndrome 11.1
16 kozlowski-krajewska syndrome 11.1
17 polycystic kidney disease 10.9
18 lung cancer 10.9
19 breast cancer 10.8
20 acute myocardial infarction 10.7
21 pancreatic ductal adenocarcinoma 10.6
22 hand skill, relative 10.6
23 rapidly involuting congenital hemangioma 10.5
24 hepatosplenic t-cell lymphoma 10.5
25 lymphocytic leukemia 10.5
26 human immunodeficiency virus type 1 10.4
27 leukemia 10.4
28 brittle bone disorder 10.4
29 leukemia, acute lymphoblastic 10.4
30 acute t cell leukemia 10.3
31 precursor t-cell acute lymphoblastic leukemia 10.3
32 prion disease 10.3
33 triiodothyronine receptor auxiliary protein 10.3
34 t-cell leukemia 10.3
35 neuroblastoma 10.3
36 erythroleukemia, familial 10.3
37 retinoblastoma 10.2
38 pitt-hopkins syndrome 10.2
39 familial retinoblastoma 10.2
40 osteogenic sarcoma 10.2
41 pertussis 10.2
42 contact dermatitis 10.2
43 glioblastoma multiforme 10.2
44 47,xyy 10.2
45 dermatitis 10.2
46 squamous cell carcinoma, head and neck 10.2
47 alcoholic hepatitis 10.2
48 papillomatosis, confluent and reticulated 10.2
49 hepatitis c virus 10.2
50 iron metabolism disease 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 polydipsia 31 HP:0001959
3 hypokalemia 31 HP:0002900
4 renal insufficiency 31 HP:0000083
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:

Abdomen Gastrointestinal:

Head And Neck Mouth:

Laboratory Abnormalities:
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:

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


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
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics Phase 4
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 Hemostatics Phase 3
8 Antifibrinolytic Agents Phase 3
9 Coagulants Phase 3
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
Bevacizumab Approved, Investigational Phase 2 216974-75-3
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
Daunorubicin Approved Phase 2 20830-81-3 30323
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Lenograstim Approved, Investigational Phase 2 135968-09-1
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
21 Propolis Phase 1, Phase 2
22 Bee Products Phase 1, Phase 2
23 Charcoal Phase 1, Phase 2
24 Anti-Infective Agents Phase 1, Phase 2
25 Calendula Phase 1, Phase 2
26 Carboxymethylcellulose Sodium Phase 1, Phase 2
27 Antineoplastic Agents, Immunological Phase 2
28 Angiogenesis Inhibitors Phase 2
29 Immunoglobulin M Phase 2
30 Immunoglobulins Phase 2
31 Paraproteins Phase 2
32 Myeloma Proteins Phase 2
33 Immunoglobulin A Phase 2
34 Antibodies Phase 2
35 Hormones Phase 2
36 Alkylating Agents Phase 2
37 Anti-Bacterial Agents Phase 2
38 Antibiotics, Antitubercular Phase 2
39 Topoisomerase Inhibitors Phase 2
Liposomal doxorubicin Phase 2 31703
41 Immunologic Factors Phase 2
42 Mitogens Phase 2
43 Chelating Agents Phase 2
44 Antimitotic Agents Phase 2
45 Adjuvants, Immunologic Phase 2
46 Albumin-Bound Paclitaxel Phase 2
47 Antirheumatic Agents Phase 2
48 Immunosuppressive Agents Phase 2
Zoledronic Acid Approved 118072-93-8 68740
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 Response of the Autonomic Nervous System to Auricular Stimulation of the Vagus Nerve (x) Recruiting NCT04130893
33 Clinical Evaluation of the Safety and Performance of RF and PEMF Following Liposuction Recruiting NCT03588702
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 The Role of CTHRC1 as a New Biomarker in Diagnosis of Rheumatoid Arthritis and Its Relation to the Disease Activity Not yet recruiting NCT04092244
43 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Not yet recruiting NCT03931122
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:

Heart, T Cells, Brain, Breast, Liver, Lung, Bone

Publications for Helix Syndrome

Articles related to Helix Syndrome:

(show top 50) (show all 30001)
# Title Authors PMID Year
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 61 56 6
28771254 2018
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 56 6
28686597 2017
Changes in strand 6B and helix B during neuroserpin inhibition: Implication in severity of clinical phenotype. 61
31954927 2020
The lac repressor hinge helix in context: The effect of the DNA binding domain and symmetry. 61
31958546 2020
Early life tobacco exposure and children's telomere length: The HELIX project. 61
32000334 2020
Purification, characterization and antibacterial activities of red color-related protein found in the shell of kuruma shrimp, Marsupenaeus japonicus. 61
31732248 2020
Using advanced vibrational molecular spectroscopy (ATR-Ft/IRS and synchrotron SR-IMS) to study an interaction between protein molecular structure from biodegradation residues and nutritional properties of cool-climate adapted faba bean seeds. 61
31951940 2020
The role of TFEB in tumor cell autophagy: Diagnostic and therapeutic opportunities. 61
31972208 2020
Degradation of several polycyclic aromatic hydrocarbons by laccase in reverse micelle system. 61
31740057 2020
ZnO nanoparticle-incorporated native collagen films with electro-conductive properties. 61
31923954 2020
Overexpression of PtDefensin enhances resistance to Septotis populiperda in transgenic poplar. 61
32005384 2020
The SSU rRNA secondary structures of the Plagiorchiida species (Digenea), its applications in systematics and evolutionary inferences. 61
31770596 2020
Analysis of uracil DNA glycosylase (UNG2) stimulation by replication protein A (RPA) at ssDNA-dsDNA junctions. 61
31866506 2020
Role of the N-Terminal Transmembrane Helix Contacts in the Activation of FGFR3. 61
31804721 2020
The START-domain proteins in intracellular lipid transport and beyond. 61
31927098 2020
The ferric citrate regulator, FecR, is translocated across the bacterial inner membrane via a unique Twin-arginine transport dependent mechanism. 61
32015149 2020
Incorporation of Aza-Glycine into Collagen Peptides. 61
31724856 2020
Ultrastructure analysis of white spot syndrome virus (WSSV). 61
31811441 2020
A Lateral Salt Bridge for the Specific Assembly of an ABC-Type Collagen Heterotrimer. 61
31971793 2020
A thermophilic phage uses a small terminase protein with a fixed helix-turn-helix geometry. 61
32014998 2020
The basic helix-loop-helix transcription factor OsBLR1 regulates leaf angle in rice via brassinosteroid signalling. 61
32026326 2020
π-Helix Controls Activity of Oxygen-Sensing Diguanylate Cyclases. 61
32039439 2020
Expression of Hey2 transcription factor in the early embryonic ventricles is controlled through a distal enhancer by Tbx20 and Gata transcription factors. 61
32035085 2020
Arabidopsis MYB4 plays dual roles in flavonoid biosynthesis. 61
31626358 2020
Understanding the role of extracellular polymeric substances in the rheological properties of aerobic granular sludge. 61
31836231 2020
Crystal structure of the Csm5 subunit of the type III-A CRISPR-Cas system. 61
31836139 2020
The complex of outer-arm dynein light chain-1 and the microtubule-binding domain of the γ heavy chain shows how axonemal dynein tunes ciliary beating. 61
32014992 2020
The Transcription Factor bHLH121 Interacts with bHLH105 (ILR3) and Its Closest Homologs to Regulate Iron Homeostasis in Arabidopsis. 61
31776233 2020
Elusive π-helical peptide foldamers spotted by chiroptical studies. 61
31845697 2020
NarL, a Novel Repressor for CYP108j1 Expression during PAHs Degradation in Rhodococcus sp. P14. 61
32024188 2020
Structural Basis for Disulphide-CoA Inhibition of a Butyryl-CoA Hexameric Thioesterase. 61
32027968 2020
Structural and dynamic analysis of G558R mutation in chicken TSHR gene shows altered signal transduction and corroborates its role as a domestication gene. 61
31746479 2020
An apple MYB transcription factor regulates cold tolerance and anthocyanin accumulation and undergoes MIEL1-mediated degradation. 61
31250952 2020
Peptides derived from the C-terminal domain of HIV-1 Viral Protein R in lipid bilayers: Structure, membrane positioning and gene delivery. 61
31816324 2020
Life with Bacterial Mechanosensitive Channels, from Discovery to Physiology to Pharmacological Target. 61
31941768 2020
Conformational plasticity of ligand-bound and ternary GPCR complexes studied by 19F NMR of the β1-adrenergic receptor. 61
32015348 2020
Protein Stability in Titan's Subsurface Water Ocean. 61
31730377 2020
α-Helix-Mimicking Sulfono-γ-AApeptide Inhibitors for p53-MDM2/MDMX Protein-Protein Interactions. 61
31971801 2020
Peptoid Helix Displaying Flavone and Porphyrin: Synthesis and Intramolecular Energy Transfer. 61
31657570 2020
Influence of interfacial tryptophan residues on an arginine-flanked transmembrane helix. 61
31738898 2020
Recent Advances in Chain Conformation and Bioactivities of Triple-Helix Polysaccharides. 61
31986015 2020
Membrane Biology: Transmembrane Helices Need to Fit the Surrounding Fat. 61
32017882 2020
Defective lytic transglycosylase disrupts cell morphogenesis by hindering cell wall de-O-acetylation in N. meningitidis. 61
32022687 2020
Hypersusceptibility of Human Cytomegalovirus to Foscarnet Induced by Mutations in Helices K and P of the Viral DNA Polymerase. 61
32015044 2020
Structural insights into the intramolecular interactions of centromere protein CENP-I. 61
32017295 2020
PepPro: A Nonredundant Structure Data Set for Benchmarking Peptide-Protein Computational Docking. 61
31793016 2020
Molecular dynamics simulations of an engineered T4 lysozyme exclude helix to sheet transition, and provide insights into long distance, intra-protein switchable motion. 61
31702853 2020
A triple-helix molecular switch photoelectrochemical biosensor for ultrasensitive microRNA detection based on position-controllable CdS//CdTe signal enhancement and switching. 61
32037421 2020
Cutting antiparallel DNA strands in a single active site. 61
32015552 2020
Sohlh2 alleviates malignancy of EOC cells under hypoxia via inhibiting the HIF1α/CA9 signaling pathway. 61
31318683 2020

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:

# 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

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....