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Isolated hyperchlorhidrosis(HYCHL)

MedGen UID:
333560
•Concept ID:
C1840437
•
Finding
Synonyms: HYCHL; HYPERCHLORHIDROSIS, ISOLATED
SNOMED CT: Isolated hyperchlorhidrosis (709413001)
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): CA12 (15q22.2)
 
Monarch Initiative: MONDO:0007747
OMIM®: 143860
Orphanet: ORPHA542657

Definition

Isolated hyperchlorhidrosis (HYCHL) is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011). [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Feeding difficulties
MedGen UID:
65429
•Concept ID:
C0232466
•
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
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Hyperkalemia
MedGen UID:
5691
•Concept ID:
C0020461
•
Finding
An abnormally increased potassium concentration in the blood.
See: Feature record | Search on this feature
Hyponatremia
MedGen UID:
6984
•Concept ID:
C0020625
•
Finding
An abnormally decreased sodium concentration in the blood.
See: Feature record | Search on this feature
Hypernatremic dehydration
MedGen UID:
340564
•Concept ID:
C1850544
•
Finding
Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk.
See: Feature record | Search on this feature
Elevated sweat chloride
MedGen UID:
347278
•Concept ID:
C1856646
•
Finding
An increased concentration of chloride in the sweat.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated hyperchlorhidrosis

Supplemental Content

Table of contents

    Clinical resources

    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
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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