HELIX
MCID: HLX001
MIFTS: 43

Helix Syndrome (HELIX)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Helix Syndrome

MalaCards integrated aliases for Helix Syndrome:

Name: Helix Syndrome 57 58 73 28 5 38
Hypohidrosis, Electrolyte Imbalance, Lacrimal Gland Dysfunction, Ichthyosis, and Xerostomia 57 73
Helix 57 73
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome 58

Characteristics:


Inheritance:

Helix Syndrome: Autosomal recessive 57
Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: Autosomal recessive 58

Prevelance:

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Hypohidrosis-Electrolyte Imbalance-Lacrimal Gland Dysfunction-Ichthyosis-Xerostomia Syndrome: Adolescent,Adult,Childhood 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases


Summaries for Helix Syndrome

Orphanet: 58 A rare genetic disease characterized by abnormalities in renal ion transport, ectodermal gland homeostasis, and epidermal integrity, resulting in generalized hypohidrosis, heat intolerance, salt-losing nephropathy, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia. Development of nephrolithiasis and severe enamel wear have also been described. Laboratory findings include hypermagnesemia, hypokalemia, hypercalcemia, and hypocalciuria.

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). Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are nephrolithiasis and hyperparathyroidism

OMIM®: 57 HELIX syndrome is an autosomal recessive disorder characterized by Hypohidrosis, Electrolyte imbalance, Lacrimal gland dysfunction, Ichthyosis, and Xerostomia (summary by Hadj-Rabia et al., 2018). (617671) (Updated 08-Dec-2022)

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

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 943)
# Related Disease Score Top Affiliating Genes
1 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.3
2 question mark ears, isolated 11.2
3 deafness, conductive, with malformed external ear 11.0
4 oculoauricular syndrome 11.0
5 auriculocondylar syndrome 3 11.0
6 parkinson disease 22, autosomal dominant 11.0
7 kozlowski-krajewska syndrome 11.0
8 vascular helix of umbilical cord 11.0
9 ear without helix 11.0
10 alkaptonuria 10.9
11 aural atresia, multiple congenital anomalies, and mental retardation 10.9
12 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.9
13 wolff mental retardation syndrome 10.9
14 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.9
15 hairy ears, y-linked 10.9
16 neurofibromatosis-noonan syndrome 10.9
17 preauricular tag, isolated, autosomal dominant, 1 10.9
18 spermatogenic failure 10 10.9
19 x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 10.9
20 chromosome 4p duplication 10.9
21 pinnae fistula or cyst 10.9
22 chronic bilirubin encephalopathy 10.7
23 hand skill, relative 10.6
24 charge syndrome 10.6
25 rapidly involuting congenital hemangioma 10.5
26 leukemia 10.5
27 amyloidosis 10.5
28 human immunodeficiency virus type 1 10.4
29 leukemia, acute lymphoblastic 10.4
30 t-cell acute lymphoblastic leukemia 10.4
31 brittle bone disorder 10.4
32 prion disease 10.4
33 hypoalphalipoproteinemia, primary, 2 10.4
34 47 xxx syndrome 10.4
35 twin-reversed arterial perfusion sequence 10.3
36 immune deficiency disease 10.3
37 turner syndrome 10.3
38 fanconi anemia, complementation group e 10.3
39 catastrophic antiphospholipid syndrome 10.3
40 cryopyrin-associated periodic syndrome 10.3
41 precursor t-cell acute lymphoblastic leukemia 10.3
42 breast cancer 10.3
43 aspergillosis 10.3
44 iron metabolism disease 10.3
45 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
46 common cold 10.3
47 neuroblastoma 10.3
48 acute erythroid leukemia 10.2
49 erythroleukemia 10.2
50 cholera 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:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 30 Very rare (1%) HP:0000787
2 hyperparathyroidism 30 Very rare (1%) HP:0000843
3 alacrima 30 Very rare (1%) HP:0000522
4 xerostomia 30 Very rare (1%) HP:0000217
5 anhidrosis 30 Very rare (1%) HP:0000970
6 hypermagnesemia 30 Very rare (1%) HP:0002918
7 polydipsia 30 HP:0001959
8 hypokalemia 30 HP:0002900
9 renal insufficiency 30 HP:0000083
10 dry skin 30 HP:0000958
11 hypohidrosis 30 HP:0000966
12 hypocalciuria 30 HP:0003127
13 heat intolerance 30 HP:0002046
14 polyuria 30 HP:0000103

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

Drugs & Therapeutics for Helix Syndrome

Search Clinical Trials, NIH Clinical Center for Helix Syndrome

Genetic Tests for Helix Syndrome

Genetic tests related to Helix Syndrome:

# Genetic test Affiliating Genes
1 Helix Syndrome 28 CLDN10

Anatomical Context for Helix Syndrome

Organs/tissues related to Helix Syndrome:

MalaCards : Eye, Skin, Skeletal Muscle, Smooth Muscle, Kidney, Bone Marrow, Heart
ODiseA: Kidney

Publications for Helix Syndrome

Articles related to Helix Syndrome:

(show top 50) (show all 30005)
# Title Authors PMID Year
1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome. 62 57 5
28771254 2018
2
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. 57 5
28686597 2017
3
A highly accumulated secretory protein from cotton bollworm interacts with basic helix-loop-helix transcription factors to dampen plant defense. 62
36131553 2023
4
An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65. 62
36265895 2023
5
α-proton Chemical Shift Index and Amide Proton Chemical Shift Temperature Coefficient of Melittin in Methanol: Indicators for a Helix Structure and an Intra-Molecular Hydrogen Bond? 62
36266498 2022
6
Design and synthesis of a tetracyclic tripeptide mimetic frozen in a polyproline type II (PP2) helix conformation. 62
36385673 2022
7
Hierarchical nano-helix as a new reinforcing unit for simultaneously ultra-strong and super-tough alginate fibers. 62
36184164 2022
8
Cyclic helix B peptide ameliorated the sepsis-induced injury in human HPMEC cells through regulating NF-κB. 62
36332815 2022
9
Correction: α-proton Chemical Shift Index and Amide Proton Chemical Shift Temperature Coefficient of Melittin in Methanol: Indicators for a Helix Structure and an Intra-Molecular Hydrogen Bond? 62
36355261 2022
10
An adjustable amyloid-β oligomers aptasensor based on the synergistic effect of self-enhanced metal-organic gel luminophore and triple-helix DNA system. 62
36174865 2022
11
Filament assembly of the C. elegans lamin in the absence of helix 1A. 62
35130129 2022
12
Propensities of Some Amino Acid Pairings in α-Helices Vary with Length. 62
36169766 2022
13
Lysine 101 in the CRAC Motif in Transmembrane Helix 2 Confers Cholesterol-Induced Thermal Stability to the Serotonin1A Receptor. 62
35986776 2022
14
Full opening of helix bundle crossing does not lead to NaK channel activation. 62
36326620 2022
15
An engineered 5-helix bundle derived from SARS-CoV-2 S2 pre-binds sarbecoviral spike at both serological- and endosomal-pH to inhibit virus entry. 62
35757908 2022
16
Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families. 62
36407415 2022
17
Molecular design and rational optimization of synergistic effect between the two wings of a roughly orthogonal cation-π-π stacking system at nasopharyngeal carcinoma YAP1-TEAD4 parallel Helix-Helix interaction interface. 62
36326001 2022
18
Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome. 62
36470424 2022
19
Lipid and Lipidation in Membrane Fusion. 62
36102950 2022
20
Investigating the allosteric response of the PICK1 PDZ domain to different ligands with all-atom simulations. 62
36251217 2022
21
Effects of Gly Residue and Cholesterol on the GXXXG-Mediated Parallel Association of Transmembrane Helices: A Single-Pair FRET Study. 62
36229427 2022
22
Prompting immunostimulatory activity of curdlan with grafting methoxypolyethylene glycol. 62
36183755 2022
23
Temperature-dependent re-alignment of the short multifunctional peptide BP100 in membranes revealed by solid-state NMR and molecular dynamics simulations. 62
36454659 2022
24
ROS and calcium oscillations are required for polarized root hair growth. 62
35938584 2022
25
Novel mycoplasma nucleomodulin MbovP475 decreased cell viability by regulating expression of CRYAB and MCF2L2. 62
36121023 2022
26
The DdrR Coregulator of the Acinetobacter baumannii Mutagenic DNA Damage Response Potentiates UmuDAb Repression of Error-Prone Polymerases. 62
36194009 2022
27
A conserved signaling pathway activates bacterial CBASS immune signaling in response to DNA damage. 62
36156805 2022
28
Stretching-Induced Conformational Transition of [3-13C]Ser- and [3-13C]Tyr-Antheraea yamamai Silk Fibroin before Spinning Investigated with 13C Solid-State NMR Spectroscopy. 62
36449573 2022
29
Next-generation retinoid X receptor agonists increase ATRA signaling in organotypic epithelium cultures and have distinct effects on receptor dynamics. 62
36436565 2022
30
Numerical simulation and parameter optimization of earth auger in hilly area using EDEM software. 62
36376347 2022
31
Endoscopic tacking system as a novel tissue approximation measure for very large EMR defects. 62
36407047 2022
32
Functional Analysis of EspM, an ESX-1-Associated Transcription Factor in Mycobacterium marinum. 62
36448785 2022
33
X-ray scattering and molecular dynamics simulations reveal the secondary structure of κ-carrageenan in the solution state. 62
36088000 2022
34
Single-helical formyl β-glucan effectively deliver CpG DNA with poly(dA) to macrophages for enhanced vaccine effects. 62
36336158 2022
35
Allosteric mechanism for SL RNA recognition by polypyrimidine tract binding protein RRM1: An atomistic MD simulation and network-based study. 62
36058398 2022
36
Point Mutations in TbpA Abrogate Human Transferrin Binding in Neisseria gonorrhoeae. 62
36321833 2022
37
Secondary Structure Characterization of Glucagon Products by Circular Dichroism and Nuclear Magnetic Resonance Spectroscopy. 62
36431905 2022
38
Transglutaminase modified type A gelatin gel: The influence of intra-molecular and inter-molecular cross-linking on structure-properties. 62
35809550 2022
39
Voltage-sensor movements in the Eag Kv channel under an applied electric field. 62
36331999 2022
40
Structures of NPAS4-ARNT and NPAS4-ARNT2 heterodimers reveal new dimerization modalities in the bHLH-PAS transcription factor family. 62
36343253 2022
41
Single substitution in α-helix of active center enhanced thermostability of Aspergillus awamori exo-inulinase. 62
36473387 2022
42
Strand 1A variant in neuroserpin shows increased aggregation and no loss of inhibition: Implication in ameliorating polymerization to retain activity. 62
36408789 2022
43
Potent Anti-Inflammatory Effects of a Helix-to-Helix Peptide against Pseudomonas aeruginosa Endotoxin-Mediated Sepsis. 62
36421317 2022
44
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation. 62
35786718 2022
45
Structural basis of direct and inverted DNA sequence repeat recognition by helix-turn-helix transcription factors. 62
36370103 2022
46
The basic helix-loop-helix transcription factors MYC1 and MYC2 have a dual role in the regulation of constitutive and stress-inducible specialized metabolism in tomato. 62
35838067 2022
47
Structural basis for NaV1.7 inhibition by pore blockers. 62
36424527 2022
48
Effects of different mechanical processes on the structural and powdery properties of insoluble undenatured type II collagen. 62
36462358 2022
49
Structures of the R-type human Cav2.3 channel reveal conformational crosstalk of the intracellular segments. 62
36446785 2022
50
Polymorphic Malignant Melanoma (PMM) of the Left Helix: Case Report with Clinical-Pathological Correlations. 62
36359557 2022

Variations for Helix Syndrome

ClinVar genetic disease variations for Helix Syndrome:

5
# 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) DEL Pathogenic/Likely Pathogenic
974823 rs2043960821 GRCh37: 13:96230232-96230232
GRCh38: 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 rs1555299783

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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