HYCHL
MCID: HYP267
MIFTS: 29

Hyperchlorhidrosis, Isolated (HYCHL)

Categories: Genetic diseases

Aliases & Classifications for Hyperchlorhidrosis, Isolated

MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:

Name: Hyperchlorhidrosis, Isolated 58 76 30 13 6 41
Carbonic Anhydrase Xii Deficiency 26 30
Hychl 58 76
Isolated Hyperchlorhidrosis 26
Hyperchlorhidrosis Isolated 38
Carbonic Anhydrase Xii 13

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hyperchlorhidrosis, isolated:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperchlorhidrosis, Isolated

Genetics Home Reference : 26 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 breast, lung and kidney, and related phenotypes are failure to thrive and dehydration

OMIM : 58 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 : 76 Hyperchlorhidrosis, isolated: An autosomal recessive 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 10.6
2 alcoholic hepatitis 10.6
3 pancreatic ductal adenocarcinoma 10.6
4 breast cancer 10.3
5 glioblastoma multiforme 10.2
6 glioblastoma 10.2
7 cervical cancer 10.1
8 aortic valve disease 2 10.1
9 oral squamous cell carcinoma 10.1
10 squamous cell carcinoma 10.1

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



Diseases related to Hyperchlorhidrosis, Isolated

Symptoms & Phenotypes for Hyperchlorhidrosis, Isolated

Human phenotypes related to Hyperchlorhidrosis, Isolated:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 dehydration 33 HP:0001944
3 abnormality of metabolism/homeostasis 33 HP:0001939
4 feeding difficulties 33 HP:0011968
5 hyponatremia 33 HP:0002902
6 hyperkalemia 33 HP:0002153

Symptoms via clinical synopsis from OMIM:

58
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

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 Hyperchlorhidrosis, Isolated 30 CA12
2 Carbonic Anhydrase Xii Deficiency 30

Anatomical Context for Hyperchlorhidrosis, Isolated

MalaCards organs/tissues related to Hyperchlorhidrosis, Isolated:

42
Breast, Lung, Kidney, T Cells

Publications for Hyperchlorhidrosis, Isolated

Articles related to Hyperchlorhidrosis, Isolated:

(show all 24)
# Title Authors Year
1
Carbonic Anhydrase XII Inhibitors Overcome Temozolomide Resistance in Glioblastoma. ( 30925064 )
2019
2
Carbonic Anhydrase XII Inhibitors Overcome P-Glycoprotein-Mediated Resistance to Temozolomide in Glioblastoma. ( 30254183 )
2018
3
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
4
Carbonic anhydrase XII functions in health and disease. ( 28433659 )
2017
5
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. ( 26911677 )
2016
6
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation. ( 26486891 )
2015
7
Carbonic anhydrase XII is a new therapeutic target to overcome chemoresistance in cancer cells. ( 25686827 )
2015
8
Carbonic anhydrase XII in valve interstitial cells promotes the regression of calcific aortic valve stenosis. ( 25771146 )
2015
9
Pharmacological inhibition of carbonic anhydrase XII interferes with cell proliferation and induces cell apoptosis in T-cell lymphomas. ( 23348702 )
2013
10
Tumor-associated carbonic anhydrase XII is linked to the growth of primary oral squamous cell carcinoma and its poor prognosis. ( 22172588 )
2012
11
Overexpression of carbonic anhydrase XII in tissues from resectable non-small cell lung cancers is a biomarker of good prognosis. ( 20521252 )
2011
12
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. ( 21184099 )
2011
13
Differential modulation of the active site environment of human carbonic anhydrase XII by cationic quantum dots and polylysine. ( 20215053 )
2010
14
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. ( 21035102 )
2010
15
Carbonic anhydrase XII promotes invasion and migration ability of MDA-MB-231 breast cancer cells through the p38 MAPK signaling pathway. ( 20434230 )
2010
16
Carbonic anhydrase XII expression is associated with histologic grade of cervical cancer and superior radiotherapy outcome. ( 21040567 )
2010
17
Identification of an alternatively spliced isoform of carbonic anhydrase XII in diffusely infiltrating astrocytic gliomas. ( 18322268 )
2008
18
Estrogen receptor regulation of carbonic anhydrase XII through a distal enhancer in breast cancer. ( 18451179 )
2008
19
Carbonic anhydrase XII is a marker of good prognosis in invasive breast carcinoma. ( 12671706 )
2003
20
Carbonic anhydrase XII mRNA encodes a hydratase that is differentially expressed along the rabbit nephron. ( 12388401 )
2003
21
Localization of carbonic anhydrase XII to the basolateral membrane of H+-secreting cells of mouse and rat kidney. ( 12923247 )
2003
22
Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells. ( 11493685 )
2001
23
Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium. ( 10611263 )
2000
24
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:

76
# Symbol AA change Variation ID SNP ID
1 CA12 p.Glu143Lys VAR_065292 rs267606694
2 CA12 p.His121Gln VAR_081182 rs775067652

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.908-1G> A single nucleotide variant Pathogenic rs148438059 GRCh38 Chromosome 15, 63327234: 63327234
4 CA12 NM_001218.4(CA12): c.908-1G> A single nucleotide variant Pathogenic rs148438059 GRCh37 Chromosome 15, 63619433: 63619433
5 CA12 NM_001218.4(CA12): c.859_860insACCT (p.Thr287Asnfs) insertion Pathogenic rs879253800 GRCh38 Chromosome 15, 63338833: 63338834
6 CA12 NM_001218.4(CA12): c.859_860insACCT (p.Thr287Asnfs) insertion Pathogenic rs879253800 GRCh37 Chromosome 15, 63631032: 63631033
7 CA12 NM_001218.4(CA12): c.363C> A (p.His121Gln) single nucleotide variant Pathogenic rs775067652 GRCh37 Chromosome 15, 63637742: 63637742
8 CA12 NM_001218.4(CA12): c.363C> A (p.His121Gln) single nucleotide variant Pathogenic rs775067652 GRCh38 Chromosome 15, 63345543: 63345543
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....