HYCHL
MCID: HYP267
MIFTS: 25

Hyperchlorhidrosis, Isolated (HYCHL)

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperchlorhidrosis, Isolated

MalaCards integrated aliases for Hyperchlorhidrosis, Isolated:

Name: Hyperchlorhidrosis, Isolated 56 73 29 13 6 39
Isolated Hyperchlorhidrosis 12 25 58 15
Carbonic Anhydrase Xii Deficiency 12 25 58
Hychl 56 12 73
Hyperchlorhidrosis Isolated 36

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hyperchlorhidrosis, isolated:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111371
OMIM 56 143860
KEGG 36 H01302
MeSH 43 D006945
SNOMED-CT 67 709413001
Orphanet 58 ORPHA542657
MedGen 41 C1840437
UMLS 71 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 isolated hyperchlorhidrosis, 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

Disease Ontology : 12 A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has material basis in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2.

OMIM : 56 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 : 36 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 : 73 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.

Wikipedia : 74 Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12... more...

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 dehydration 31 HP:0001944
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 feeding difficulties 31 HP:0011968
5 hyponatremia 31 HP:0002902
6 hyperkalemia 31 HP:0002153

Symptoms via clinical synopsis from OMIM:

56
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

Anatomical Context for Hyperchlorhidrosis, Isolated

MalaCards organs/tissues related to Hyperchlorhidrosis, Isolated:

40
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. 6 56
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. 56 6
21184099 2011
3
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII. 6 56
21035102 2010
4
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency. 61
24714577 2014

Variations for Hyperchlorhidrosis, Isolated

ClinVar genetic disease variations for Hyperchlorhidrosis, Isolated:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CA12 NM_001218.5(CA12):c.427G>A (p.Glu143Lys)SNV Pathogenic 18442 rs267606694 15:63637678-63637678 15:63345479-63345479
2 CA12 NM_001218.5(CA12):c.908-1G>ASNV Pathogenic 218369 rs148438059 15:63619433-63619433 15:63327234-63327234
3 CA12 NM_001218.5(CA12):c.859_860insACCT (p.Thr287fs)insertion Pathogenic 218367 rs879253800 15:63631032-63631033 15:63338833-63338834
4 CA12 NM_001218.5(CA12):c.363C>A (p.His121Gln)SNV Pathogenic 218368 rs775067652 15:63637742-63637742 15:63345543-63345543
5 CA12 NM_001218.5(CA12):c.954_955TG[1] (p.Val319fs)short repeat Likely pathogenic 561267 rs757974800 15:63619383-63619384 15:63327184-63327185
6 CA12 NM_001218.5(CA12):c.228C>T (p.Phe76=)SNV Benign 710051 rs139241902 15:63638787-63638787 15:63346588-63346588

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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