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HELIX syndrome(HELIX)

MedGen UID:
1621482
•Concept ID:
C4522164
•
Disease or Syndrome
Synonyms: HYPOHIDROSIS, ELECTROLYTE IMBALANCE, LACRIMAL GLAND DYSFUNCTION, ICHTHYOSIS, AND XEROSTOMIA; Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
SNOMED CT: HELIX (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome (1217380005); Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (1217380005); HELIX syndrome (1217380005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CLDN10 (13q32.1)
 
Monarch Initiative: MONDO:0060564
OMIM®: 617671
Orphanet: ORPHA528105

Definition

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). [from OMIM]

Clinical features

From HPO
Hypocalciuria
MedGen UID:
9381
•Concept ID:
C0020599
•
Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
See: Feature record | Search on this feature
Polyuria
MedGen UID:
19404
•Concept ID:
C0032617
•
Sign or Symptom
An increased rate of urine production.
See: Feature record | Search on this feature
Nephrolithiasis
MedGen UID:
98227
•Concept ID:
C0392525
•
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
See: Feature record | Search on this feature
Renal insufficiency
MedGen UID:
332529
•Concept ID:
C1565489
•
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
See: Feature record | Search on this feature
Polydipsia
MedGen UID:
43214
•Concept ID:
C0085602
•
Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
See: Feature record | Search on this feature
Hypokalemia
MedGen UID:
5712
•Concept ID:
C0020621
•
Finding
An abnormally decreased potassium concentration in the blood.
See: Feature record | Search on this feature
Heat intolerance
MedGen UID:
66659
•Concept ID:
C0231274
•
Pathologic Function
The inability to maintain a comfortable body temperature in warm or hot weather.
See: Feature record | Search on this feature
Hypermagnesemia
MedGen UID:
312005
•Concept ID:
C1522135
•
Finding
An abnormally increased magnesium concentration in the blood.
See: Feature record | Search on this feature
Xerostomia
MedGen UID:
22735
•Concept ID:
C0043352
•
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
See: Feature record | Search on this feature
Anhidrosis
MedGen UID:
1550
•Concept ID:
C0003028
•
Disease or Syndrome
Inability to sweat.
See: Feature record | Search on this feature
Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
Dry skin
MedGen UID:
56250
•Concept ID:
C0151908
•
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
See: Feature record | Search on this feature
Hyperparathyroidism
MedGen UID:
6967
•Concept ID:
C0020502
•
Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
See: Feature record | Search on this feature
Alacrima
MedGen UID:
87488
•Concept ID:
C0344505
•
Disease or Syndrome
Absence of tear secretion.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHELIX syndrome

Professional guidelines

PubMed

Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT
Nat Med 2020 Aug;26(8):1235-1239. Epub 2020 Jul 27 doi: 10.1038/s41591-020-0982-5. PMID: 32719484
65 YEARS OF THE DOUBLE HELIX: Genetics informs precision practice in the diagnosis and management of pheochromocytoma.
Neumann HP, Young WF Jr, Krauss T, Bayley JP, Schiavi F, Opocher G, Boedeker CC, Tirosh A, Castinetti F, Ruf J, Beltsevich D, Walz M, Groeben HT, von Dobschuetz E, Gimm O, Wohllk N, Pfeifer M, Lourenço DM Jr, Peczkowska M, Patocs A, Ngeow J, Makay Ö, Shah NS, Tischler A, Leijon H, Pennelli G, Villar Gómez de Las Heras K, Links TP, Bausch B, Eng C
Endocr Relat Cancer 2018 Aug;25(8):T201-T219. Epub 2018 May 24 doi: 10.1530/ERC-18-0085. PMID: 29794110
The challenges of Proteus syndrome: diagnosis and management.
Biesecker L
Eur J Hum Genet 2006 Nov;14(11):1151-7. Epub 2006 Aug 2 doi: 10.1038/sj.ejhg.5201638. PMID: 16883308

Recent clinical studies

Etiology

Claudin-10 Decrease in the Submandibular Gland Contributes to Xerostomia.
He L, Yuan SZ, Mao XD, Zhao YW, He QH, Zhang Y, Su JZ, Wu LL, Yu GY, Cong X
J Dent Res 2024 Feb;103(2):167-176. Epub 2023 Dec 6 doi: 10.1177/00220345231210547. PMID: 38058154

Diagnosis

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H
Genet Med 2018 Feb;20(2):190-201. Epub 2017 Aug 3 doi: 10.1038/gim.2017.71. PMID: 28771254

Clinical prediction guides

Claudin-10 Decrease in the Submandibular Gland Contributes to Xerostomia.
He L, Yuan SZ, Mao XD, Zhao YW, He QH, Zhang Y, Su JZ, Wu LL, Yu GY, Cong X
J Dent Res 2024 Feb;103(2):167-176. Epub 2023 Dec 6 doi: 10.1177/00220345231210547. PMID: 38058154

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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