HYCHL
MCID: HYP267
MIFTS: 23

Hyperchlorhidrosis, Isolated (HYCHL)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperchlorhidrosis, Isolated

MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:

Name: Hyperchlorhidrosis, Isolated 57 74 29 13 6 40
Carbonic Anhydrase Xii Deficiency 25 59 29
Isolated Hyperchlorhidrosis 25 59
Hychl 57 74
Hyperchlorhidrosis Isolated 37

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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 143860
KEGG 37 H01302
MeSH 44 D006945
Orphanet 59 ORPHA542657
MedGen 42 C1840437

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. While hyperchlorhidrosis can occur as one of several features of other conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions.

MalaCards based summary : Hyperchlorhidrosis, Isolated, also known as carbonic anhydrase xii deficiency, is related to pseudohypoaldosteronism. An important gene associated with Hyperchlorhidrosis, Isolated is CA12 (Carbonic Anhydrase 12). Affiliated tissues include skin, 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)

KEGG : 37
Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis isolated (HCHLH) is autosomal recessive nonsyndromic disorder characterized by excessive sweating and increased sweat chloride levels. HCHLH is caused by homozygous mutation in CA12, encoding carbonic anhydrase.

UniProtKB/Swiss-Prot : 74 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 pseudohypoaldosteronism 10.1

Symptoms & Phenotypes for Hyperchlorhidrosis, Isolated

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

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

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 29 CA12
2 Carbonic Anhydrase Xii Deficiency 29

Anatomical Context for Hyperchlorhidrosis, Isolated

MalaCards organs/tissues related to Hyperchlorhidrosis, Isolated:

41
Skin

Publications for Hyperchlorhidrosis, Isolated

Articles related to Hyperchlorhidrosis, Isolated:

# Title Authors PMID Year
1
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease. 8 71
26911677 2016
2
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. 8 71
21184099 2011
3
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. 8 71
21035102 2010
4
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency. 38
24714577 2014

Variations for Hyperchlorhidrosis, Isolated

ClinVar genetic disease variations for Hyperchlorhidrosis, Isolated:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CA12 NM_001218.5(CA12): c.427G> A (p.Glu143Lys) single nucleotide variant Pathogenic rs267606694 15:63637678-63637678 15:63345479-63345479
2 CA12 NM_001218.5(CA12): c.908-1G> A single nucleotide variant Pathogenic rs148438059 15:63619433-63619433 15:63327234-63327234
3 CA12 NM_001218.5(CA12): c.859_860insACCT (p.Thr287fs) insertion Pathogenic rs879253800 15:63631032-63631033 15:63338833-63338834
4 CA12 NM_001218.5(CA12): c.363C> A (p.His121Gln) single nucleotide variant Pathogenic rs775067652 15:63637742-63637742 15:63345543-63345543
5 CA12 NM_001218.5(CA12): c.954_955TG[1] (p.Val319fs) short repeat Likely pathogenic 15:63619383-63619384 15:63327184-63327185

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

74
# Symbol AA change Variation ID SNP ID
1 CA12 p.Glu143Lys VAR_065292 rs267606694
2 CA12 p.His121Gln VAR_081182 rs775067652

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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