HYPERCHLORHIDROSIS, ISOLATED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 14
OrphanetNr:
OMIM Id: 143860
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011968) Feeding difficulties 240 / 7739
2
(HPO:0001508) Failure to thrive 454 / 7739
3
(HPO:0001944) Dehydration 59 / 7739
4
(HPO:0002153) Hyperkalemia 25 / 7739
5
(HPO:0002902) Hyponatremia 37 / 7739
6
(HPO:0003593) Infantile onset 249 / 7739
7
(OMIM) [DEL]Poor feeding in infancy 6 / 7739
8
(OMIM) Hyponatremia in infancy 1 / 7739
9
(OMIM) Hyponatremic dehydration, episodic 1 / 7739
10
(OMIM) Excessive salt in sweat 1 / 7739
11
(OMIM) Increased chloride levels in sweat 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(OMIM) Poor weight gain in infancy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Isolated hyperchlorhidrosis 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).
Clinical Description OMIM Feldshtein et al. (2010) reported a large multigenerational Israeli Bedouin kindred in which 7 individuals had isolated hyperchlorhidrosis. Two patients presented in infancy with hyponatremic dehydration associated with gastroenteritis. Sodium supplementation was effective treatment. Testing of sweat showed ...
Molecular genetics OMIM By sequencing of candidate genes within a region of homozygosity on chromosome 15q22, Feldshtein et al. (2010) identified a homozygous mutation in the CA12 gene (E143K; 603263.0001) in affected members of an Israeli Bedouin family with isolated hyperchlorhidrosis. ...