HCHLH
MCID: HYP267
MIFTS: 29

Hyperchlorhidrosis, Isolated (HCHLH)

Categories: Genetic diseases

Aliases & Classifications for Hyperchlorhidrosis, Isolated

MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:

Name: Hyperchlorhidrosis, Isolated 57 75 29 13 6 40
Carbonic Anhydrase Xii Deficiency 25 29
Isolated Hyperchlorhidrosis 25
Hyperchlorhidrosis Isolated 37
Carbonic Anhydrase Xii 13
Hychl 57
Hchlh 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
favorable response to sodium chloride treatment
normal growth and development after 1 year of age


HPO:

32
hyperchlorhidrosis, isolated:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperchlorhidrosis, Isolated

Genetics Home Reference : 25 Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because the salt is abnormally released from the body in sweat, there are lower than normal levels of sodium in fluids inside the body (hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or more episodes of dehydration with low levels of sodium in the blood (hyponatremic dehydration), which can require hospitalization. These episodes typically follow a mild illness that causes vomiting or diarrhea. Affected infants also have poor feeding and an inability to grow and gain weight at the expected rate (failure to thrive). By early childhood, though, weight and height usually catch up to normal, although the abnormal loss of salt still remains. These individuals may still experience dangerous hyponatremia when they sweat excessively, for example in warm temperatures or when exercising.

MalaCards based summary : Hyperchlorhidrosis, Isolated, also known as carbonic anhydrase xii deficiency, is related to lung cancer and alcoholic hepatitis. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12). Affiliated tissues include lung, kidney and t cells, and related phenotypes are failure to thrive and dehydration

OMIM : 57 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). (143860)

UniProtKB/Swiss-Prot : 75 Hyperchlorhidrosis, isolated: A disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat.

Related Diseases for Hyperchlorhidrosis, Isolated

Diseases related to Hyperchlorhidrosis, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung cancer 10.5
2 alcoholic hepatitis 10.5
3 pancreatic ductal adenocarcinoma 10.5
4 breast cancer 10.2
5 cervical cancer 10.1
6 aortic valve disease 2 10.1
7 oral squamous cell carcinoma 10.1
8 squamous cell carcinoma 10.1
9 glioblastoma multiforme 10.1
10 glioblastoma 10.1

Graphical network of the top 20 diseases related to Hyperchlorhidrosis, Isolated:



Diseases related to Hyperchlorhidrosis, Isolated

Symptoms & Phenotypes for Hyperchlorhidrosis, Isolated

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Growth Weight:
poor weight gain in infancy

Abdomen Gastrointestinal:
poor feeding in infancy

Metabolic Features:
hyponatremic dehydration, episodic

Laboratory Abnormalities:
hyperkalemia
hyponatremia in infancy

Respiratory:
obstructive airway disease, mild (in some patients)

Skin Nails Hair Skin:
excessive salt in sweat
increased sweat chloride levels


Clinical features from OMIM:

143860

Human phenotypes related to Hyperchlorhidrosis, Isolated:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 dehydration 32 HP:0001944
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 feeding difficulties 32 HP:0011968
5 hyponatremia 32 HP:0002902
6 hyperkalemia 32 HP:0002153

Drugs & Therapeutics for Hyperchlorhidrosis, Isolated

Search Clinical Trials , NIH Clinical Center for Hyperchlorhidrosis, Isolated

Genetic Tests for Hyperchlorhidrosis, Isolated

Genetic tests related to Hyperchlorhidrosis, Isolated:

# Genetic test Affiliating Genes
1 Carbonic Anhydrase Xii Deficiency 29
2 Hyperchlorhidrosis, Isolated 29 CA12

Anatomical Context for Hyperchlorhidrosis, Isolated

MalaCards organs/tissues related to Hyperchlorhidrosis, Isolated:

41
Lung, Kidney, T Cells, Breast

Publications for Hyperchlorhidrosis, Isolated

Articles related to Hyperchlorhidrosis, Isolated:

(show all 21)
# Title Authors Year
1
Selective inhibition of carbonic anhydrase IX over carbonic anhydrase XII in breast cancer cells using benzene sulfonamides: Disconnect between activity and growth inhibition. ( 30452451 )
2018
2
Carbonic Anhydrase XII Inhibitors Overcome P-Glycoprotein-Mediated Resistance to Temozolomide in Glioblastoma. ( 30254183 )
2018
3
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. ( 26911677 )
2016
4
Carbonic anhydrase XII in valve interstitial cells promotes the regression of calcific aortic valve stenosis. ( 25771146 )
2015
5
Carbonic anhydrase XII is a new therapeutic target to overcome chemoresistance in cancer cells. ( 25686827 )
2015
6
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation. ( 26486891 )
2015
7
Pharmacological inhibition of carbonic anhydrase XII interferes with cell proliferation and induces cell apoptosis in T-cell lymphomas. ( 23348702 )
2013
8
Tumor-associated carbonic anhydrase XII is linked to the growth of primary oral squamous cell carcinoma and its poor prognosis. ( 22172588 )
2012
9
Overexpression of carbonic anhydrase XII in tissues from resectable non-small cell lung cancers is a biomarker of good prognosis. ( 20521252 )
2011
10
Differential modulation of the active site environment of human carbonic anhydrase XII by cationic quantum dots and polylysine. ( 20215053 )
2010
11
Carbonic anhydrase XII expression is associated with histologic grade of cervical cancer and superior radiotherapy outcome. ( 21040567 )
2010
12
Carbonic anhydrase XII promotes invasion and migration ability of MDA-MB-231 breast cancer cells through the p38 MAPK signaling pathway. ( 20434230 )
2010
13
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. ( 21035102 )
2010
14
Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. ( 18322268 )
2008
15
Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. ( 18451179 )
2008
16
Carbonic anhydrase XII is a marker of good prognosis in invasive breast carcinoma. ( 12671706 )
2003
17
Carbonic anhydrase XII mRNA encodes a hydratase that is differentially expressed along the rabbit nephron. ( 12388401 )
2003
18
Localization of carbonic anhydrase XII to the basolateral membrane of H+-secreting cells of mouse and rat kidney. ( 12923247 )
2003
19
Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells. ( 11493685 )
2001
20
Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium. ( 10611263 )
2000
21
Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers. ( 9636197 )
1998

Variations for Hyperchlorhidrosis, Isolated

UniProtKB/Swiss-Prot genetic disease variations for Hyperchlorhidrosis, Isolated:

75
# Symbol AA change Variation ID SNP ID
1 CA12 p.Glu143Lys VAR_065292 rs267606694

ClinVar genetic disease variations for Hyperchlorhidrosis, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CA12 NM_001218.4(CA12): c.427G> A (p.Glu143Lys) single nucleotide variant Pathogenic rs267606694 GRCh37 Chromosome 15, 63637678: 63637678
2 CA12 NM_001218.4(CA12): c.427G> A (p.Glu143Lys) single nucleotide variant Pathogenic rs267606694 GRCh38 Chromosome 15, 63345479: 63345479
3 CA12 NM_001218.4(CA12): c.363C> A (p.His121Gln) single nucleotide variant Pathogenic rs775067652 GRCh38 Chromosome 15, 63345543: 63345543
4 CA12 NM_001218.4(CA12): c.908-1G> A single nucleotide variant Pathogenic rs148438059 GRCh38 Chromosome 15, 63327234: 63327234
5 CA12 NM_001218.4(CA12): c.908-1G> A single nucleotide variant Pathogenic rs148438059 GRCh37 Chromosome 15, 63619433: 63619433
6 CA12 NM_001218.4(CA12): c.859_860insACCT (p.Thr287Asnfs) insertion Pathogenic rs879253800 GRCh38 Chromosome 15, 63338833: 63338834
7 CA12 NM_001218.4(CA12): c.859_860insACCT (p.Thr287Asnfs) insertion Pathogenic rs879253800 GRCh37 Chromosome 15, 63631032: 63631033
8 CA12 NM_001218.4(CA12): c.363C> A (p.His121Gln) single nucleotide variant Pathogenic rs775067652 GRCh37 Chromosome 15, 63637742: 63637742
9 CA12 NM_001218.4(CA12): c.956_957delTG (p.Val319Glyfs) deletion Likely pathogenic GRCh38 Chromosome 15, 63327184: 63327185
10 CA12 NM_001218.4(CA12): c.956_957delTG (p.Val319Glyfs) deletion Likely pathogenic GRCh37 Chromosome 15, 63619383: 63619384

Expression for Hyperchlorhidrosis, Isolated

Search GEO for disease gene expression data for Hyperchlorhidrosis, Isolated.

Pathways for Hyperchlorhidrosis, Isolated

GO Terms for Hyperchlorhidrosis, Isolated

Sources for Hyperchlorhidrosis, Isolated

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74 UMLS via Orphanet
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