HELIX
MCID: HLX001
MIFTS: 46

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 57 59 74 6
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 57 74
Helix 57 74
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 59
Abnormality of the Helix 29
Syndrome, Helix 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
helix syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

OMIM 57 617671
MeSH 44 D000015
Orphanet 59 ORPHA528105

Summaries for Helix Syndrome

UniProtKB/Swiss-Prot : 74 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 660)
# 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 morel's ear 11.2
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 10.8
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 col1a1/2-related osteogenesis imperfecta 10.4
31 acute t cell leukemia 10.3
32 precursor t-cell acute lymphoblastic leukemia 10.3
33 neuroblastoma 1 10.3
34 prion disease 10.3
35 triiodothyronine receptor auxiliary protein 10.3
36 t-cell leukemia 10.3
37 erythroleukemia, familial 10.3
38 glioblastoma multiforme 10.3
39 glioblastoma 10.3
40 retinoblastoma 10.2
41 familial retinoblastoma 10.2
42 osteogenic sarcoma 10.2
43 contact dermatitis 10.2
44 leukemia, t-cell, chronic 10.2
45 pitt-hopkins syndrome 10.2
46 pertussis 10.2
47 dermatitis 10.2
48 47,xyy 10.2
49 herpes simplex 10.2
50 squamous cell carcinoma, head and neck 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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 very rare (1%) HP:0000787
2 renal insufficiency 32 HP:0000083
3 polydipsia 32 HP:0001959
4 hypokalemia 32 HP:0002900
5 dry skin 32 HP:0000958
6 xerostomia 32 HP:0000217
7 hypohidrosis 32 HP:0000966
8 alacrima 32 HP:0000522
9 hypermagnesemia 32 HP:0002918
10 hypocalciuria 32 HP:0003127
11 heat intolerance 32 HP:0002046
12 polyuria 32 HP:0000103

Symptoms via clinical synopsis from OMIM:

57
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 74)
# 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 Ophthalmic Solutions Phase 3
5 Pharmaceutical Solutions Phase 3
6 Liver Extracts Phase 3
7 Hemostatics Phase 3
8 Coagulants Phase 3
9 Antifibrinolytic Agents 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 50-18-0, 6055-19-2 2907
16
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 23925 27284
17
Lenograstim Approved, Investigational Phase 2 135968-09-1
18
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
19
Creatine Approved, Investigational, Nutraceutical Phase 2 57-00-1 586
20 Carboxymethylcellulose Sodium Phase 1, Phase 2
21 Anti-Infective Agents Phase 1, Phase 2
22 Charcoal Phase 1, Phase 2
23 Bee Products Phase 1, Phase 2
24 Calendula Phase 1, Phase 2
25 Propolis Phase 1, Phase 2
26 Angiogenesis Inhibitors Phase 2
27 Angiogenesis Modulating Agents Phase 2
28 Myeloma Proteins Phase 2
29 Antibodies Phase 2
30 Paraproteins Phase 2
31 Immunoglobulin M Phase 2
32 Antineoplastic Agents, Immunological Phase 2
33 Immunoglobulins Phase 2
34 Immunoglobulin A Phase 2
35 Hormones Phase 2
36 Alkylating Agents Phase 2
37 Antineoplastic Agents, Alkylating Phase 2
38 Antineoplastic Agents, Phytogenic Phase 2
39 Mitogens Phase 2
40 Adjuvants, Immunologic Phase 2
41 Tubulin Modulators Phase 2
42 Albumin-Bound Paclitaxel Phase 2
43 Chelating Agents Phase 2
44 Immunosuppressive Agents Phase 2
45 Antimitotic Agents Phase 2
46 Antirheumatic Agents Phase 2
47 Immunologic Factors Phase 2
48
Doxorubicin Approved, Investigational Phase 1 23214-92-8 31703
49
Liposomal doxorubicin Phase 1 31703
50 Anti-Bacterial Agents Phase 1

Interventional clinical trials:

(show all 40)
# 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 Clinical Evaluation of the Safety and Performance of RF and PEMF Following Liposuction Recruiting NCT03588702
32 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
33 Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss Active, not recruiting NCT02811549
34 Prospective Observational Study of Neodent Implantable Devices of GM Line Active, not recruiting NCT03812276
35 Carotid Artery Implant for Trapping Upstream Emboli for Preventing Stroke in Atrial Fibrillation Patients Active, not recruiting NCT03571789
36 Hypothermia for Encephalopathy in Low and Middle-Income Countries Trial Active, not recruiting NCT02387385
37 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
38 Role of Sorcin and Annexin A3 in Breast Cancer Patients Not yet recruiting NCT03598660
39 Comparison of Weight-based Versus External Ear-size Based Technique for Selection of Laryngeal Mask Airway in Pediatric Surgical Patients. Not yet recruiting NCT03931122
40 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

Anatomical Context for Helix Syndrome

MalaCards organs/tissues related to Helix Syndrome:

41
Heart, Brain, T Cells, Breast, Liver, Bone, Lung

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. 38 8 71
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 8 71
28686597 2017
3
Flexibility and thermal dynamic stability increase of dsDNA induced by Ru(bpy)2dppz2+ based on AFM and HRM technique. 38
31384815 2019
4
Intramolecular electrostatic interactions contribute to phospholipase Cβ3 autoinhibition. 38
31254604 2019
5
Olive flounder (Paralichthys olivaceus) myogenic regulatory factor 4 and its muscle-specific promoter activity. 38
31255700 2019
6
Insights into the relations between the molecular structures and digestion properties of retrograded starch after ultrasonic treatment. 38
31126460 2019
7
Structural features of methionine aminopeptidase2-active core peptide essential for binding with S100A4. 38
31284952 2019
8
Global transcriptome analysis provides new insights in Thellungiella salsuginea stress response. 38
31081576 2019
9
Temperature-sensitive mutants of MscL mechanosensitive channel. 38
31143940 2019
10
Endonucleases responsible for DNA repair of helix-distorting DNA lesions in the thermophilic crenarchaeon Sulfolobus acidocaldarius in vivo. 38
31377865 2019
11
Effect of nonenzymatic deamidation on the structure stability of Camelus dromedarius α-lactalbumin. 38
31006460 2019
12
Novel synthetic tosyl chloride-berbamine regresses lethal MYC-positive leukemia by targeting CaMKIIγ/Myc axis. 38
31247466 2019
13
Encapsulation of silver nanoparticles into the helix of water soluble starch and their sensing properties. 38
31163242 2019
14
The helix-inversion mechanism in double-stranded helical oligomers bridged by rotary cyclic boronate esters. 38
31095769 2019
15
Effect of temperature on the actomyosin-paramyosin structure from giant squid mantle (Dosidicus gigas). 38
31077364 2019
16
Trichogin GA IV Alignment and Oligomerization in Phospholipid Bilayers. 38
31125169 2019
17
Structural Destabilization of Azurin by Imidazolium Chloride Ionic Liquids in Aqueous Solution. 38
31335143 2019
18
Toxin-antitoxin operon kacAT of Klebsiella pneumoniae is regulated by conditional cooperativity via a W-shaped KacA-KacT complex. 38
31260525 2019
19
Parkin is transcriptionally regulated by the aryl hydrocarbon receptor: Impact on α-synuclein protein levels. 38
31404530 2019
20
Structural differences of commercial and recombinant lipase B from Candida antarctica: An important implication on enzymes thermostability. 38
31434004 2019
21
Yes-associated protein expression in germ cells is dispensable for spermatogenesis in mice. 38
31386299 2019
22
Biominerals Formed by DNA and Calcium Oxalate or Hydroxyapatite: A Comparative Study. 38
31373826 2019
23
A positive feedback loop comprising LHW-TMO5 and local auxin biosynthesis regulates initial vascular development in Arabidopsis roots. 38
31392340 2019
24
A key gene bHLH115 in iron homeostasis: comprehensive bioinformatics analyses in Arabidopsis, tomato, rice, and maize. 38
31062267 2019
25
Upregulation of aryl hydrocarbon receptor nuclear translocator 2 in the hippocampi of post-stroke depression rats. 38
31338190 2019
26
The distal cytoplasmic tail of the influenza A M2 protein dynamically extends from the membrane. 38
31153909 2019
27
Characteristics and Expression Pattern of MYC Genes in Triticum aestivum, Oryza sativa, and Brachypodium distachyon. 38
31398900 2019
28
Identifying potential novel drugs against Helicobacter pylori by targeting the essential response regulator HsrA. 38
31383920 2019
29
Structural basis for the inhibitory effects of a novel reversible covalent ligand on PPARγ phosphorylation. 38
31371757 2019
30
Quantifying length-dependent DNA end-binding by nucleoproteins. 38
31102748 2019
31
A Histidine Residue and a Tetranuclear Cuprous-thiolate Cluster Dominate the Copper Loading Landscape of a Copper Storage Protein from Streptomyces lividans. 38
31111982 2019
32
The autoregulator Aca2 mediates anti-CRISPR repression. 38
31428783 2019
33
Exploring hydroxamic acid inhibitors of HDAC1 and HDAC2 using small molecule tools and molecular or homology modelling. 38
31400937 2019
34
Cryo-EM structure of the native rhodopsin dimer in nanodiscs. 38
31399513 2019
35
Influence of lysine residue in amphipathic helical peptides on targeted delivery of RNA into cancer cells. 38
31133532 2019
36
Targeting DNA Repair in Tumor Cells via Inhibition of ERCC1-XPF. 38
31369707 2019
37
Triarylborane-Based Helical Donor-Acceptor Compounds: Synthesis, Photophysical, and Electronic Properties. 38
31210396 2019
38
Effects of Arginine Deimination and Citrulline Side-Chain Length on Peptide Secondary Structure Formation. 38
31071235 2019
39
The transition structure of chromatin fibers at the nanoscale probed by cryogenic electron tomography. 38
31211313 2019
40
Molecular insight into conformational transformation of human glucokinase: conventional and targeted molecular dynamics. 38
31379266 2019
41
Folding and Assembly of Short α, β, γ-Hybrid Peptides: Minor Variations in Sequence and Drastic Differences in Higher-Level Structures. 38
31381306 2019
42
Three-dimensional evaluation of forced unilateral posterior crossbite correction in the mixed dentition: a randomized controlled trial. 38
31369676 2019
43
The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. 38
31370103 2019
44
Metal-Helix Frameworks Formed by μ3 -NO3- with Different Orientations and Connected to a Heterometallic CuII10 DyIII2 Folded Cluster. 38
31287598 2019
45
Unravelling the Role of Hydroxyproline in Maintaining the Thermal Stability of the Collagen Triple Helix Structure Using Simulation. 38
31418574 2019
46
Triple-Helix Molecular Switch Electrochemiluminescence Nano-amplifier based on a S-doped Lu2O3/Ag2S Pair for Sensitive MicroRNA Detection. 38
31416302 2019
47
Giant caloric effects enhanced by the helix polarization at the 180° domain wall in tetragonal BaTiO<sub>3</sub>. 38
31434066 2019
48
Single-handed supramolecular double helix of homochiral bis(N-amidothiourea) supported by double crossed C-I···S halogen bonds. 38
31399581 2019
49
Stability of an RNA•DNA-DNA triple helix depends on base triplet composition and length of the RNA third strand. 38
31265072 2019
50
Prenatal and Childhood Traffic-Related Air Pollution Exposure and Telomere Length in European Children: The HELIX Project. 38
31393792 2019

Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CLDN10 NM_182848.3(CLDN10): c.215-7235C> G single nucleotide variant Pathogenic rs759408749 13:96205151-96205151 13:95552897-95552897
2 CLDN10 NM_182848.3(CLDN10): c.386C> T (p.Ser129Leu) single nucleotide variant Pathogenic rs1555299783 13:96212645-96212645 13:95560391-95560391
3 CLDN10 NM_182848.3(CLDN10): c.215-7377T> C single nucleotide variant Pathogenic rs930701747 13:96205009-96205009 13:95552755-95552755

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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