Aliases & Classifications for Anhidrosis

MalaCards integrated aliases for Anhidrosis:

Name: Anhidrosis 12 52 14 69
Absence of Sweating 12
Adiaphoresis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11156
ICD10 33 L74.4
ICD9CM 35 705.0
MeSH 42 D007007
NCIt 47 C34385
UMLS 69 C0003028

Summaries for Anhidrosis

MalaCards based summary : Anhidrosis, also known as absence of sweating, is related to pyruvate kinase deficiency and insensitivity to pain, congenital, with anhidrosis, and has symptoms including increased sweating An important gene associated with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are GPCR Pathway and TGF-Beta Pathway. The drugs Acetylcholine and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and lung, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 72 Hypohidrosis is diminished sweating in response to appropriate stimuli. While hyperhidrosis is a... more...

Related Diseases for Anhidrosis

Diseases related to Anhidrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
id Related Disease Score Top Affiliating Genes
1 pyruvate kinase deficiency 29.4 NTRK1 PKLR
2 insensitivity to pain, congenital, with anhidrosis 12.3
3 anhidrosis, isolated, with normal sweat glands 12.2
4 harlequin syndrome 11.4
5 van den bosch syndrome 11.3
6 hypohidrosis 11.3
7 horner's syndrome 11.1
8 ichthyosis, congenital, autosomal recessive 5 10.6
9 ectodermal dysplasia 1, hypohidrotic, x-linked 10.6
10 ichthyosis, congenital, autosomal recessive 6 10.6
11 ichthyosis, congenital, autosomal recessive 10 10.6
12 splenomegaly, cytopenia, and vision loss 10.6
13 ichthyosis, congenital, autosomal recessive 8 10.6
14 horner syndrome, congenital 10.6
15 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.6
16 ichthyosis, congenital, autosomal recessive 11 10.6
17 ichthyosis, congenital, autosomal recessive 7 10.6
18 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.6
19 immunodeficiency 9 10.6
20 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.6
21 ichthyosis, congenital, autosomal recessive 1 10.6
22 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.6
23 ichthyosis, congenital, autosomal recessive 9 10.6
24 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.6
25 ichthyosis, congenital, autosomal recessive 2 10.6
26 ichthyosis, congenital, autosomal recessive 4a 10.6
27 ichthyosis, congenital, autosomal recessive 3 10.6
28 neuropathy, hereditary sensory and autonomic, type v 10.4 NGF NTRK1
29 pharynx carcinoma in situ 10.4 NGF NTRK1
30 water-clear cell adenoma 10.4 NGF NTRK1
31 cecum adenoma 10.4 NGF NTRK1
32 pseudoainhum 10.3 NGF NGFR
33 neuropathy 10.3
34 anal canal adenocarcinoma 10.2 NGFR NTRK1
35 epidermolysis bullosa simplex superficialis 10.2 NGF NTRK1
36 cystadenoma 10.2 NGF NTRK1
37 febrile seizures, familial, 3b 10.1 NGF NTRK1
38 diffuse large b-cell lymphoma 10.0 NGF NGFR NTRK1
39 autonomic neuropathy 10.0
40 brain glioblastoma multiforme 10.0 CHRM3 NGF
41 scleroperikeratitis 10.0 GLA NGF NTRK1
42 miliaria 9.9
43 alopecia 9.9
44 ectodermal dysplasia 9.9
45 pheochromocytoma 9.9 NGF NGFR NTRK1
46 postmenopausal atrophic vaginitis 9.9 NGF NTRK1
47 oral leukoedema 9.8 NGFR NTRK3
48 multiple system atrophy 9.8
49 cholinergic urticaria 9.8
50 urticaria 9.8

Graphical network of the top 20 diseases related to Anhidrosis:



Diseases related to Anhidrosis

Symptoms & Phenotypes for Anhidrosis

UMLS symptoms related to Anhidrosis:


increased sweating

MGI Mouse Phenotypes related to Anhidrosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 CHRM3 GLA IKBKG ITPR2 NGF NGFR
2 growth/size/body region MP:0005378 9.92 CHRM3 GLA IKBKG ITPR2 NGF NGFR
3 cardiovascular system MP:0005385 9.91 CHRM3 GLA IKBKG ITPR2 NGF NGFR
4 mortality/aging MP:0010768 9.86 GLA IKBKG ITPR2 NGF NGFR NTRK1
5 muscle MP:0005369 9.55 CHRM3 GLA NGF NGFR NTRK1
6 normal MP:0002873 9.5 NGF NGFR NTRK1 NTRK3 PKLR IKBKG
7 vision/eye MP:0005391 9.1 GLA NGF NGFR NTRK1 NTRK3 CHRM3

Drugs & Therapeutics for Anhidrosis

Drugs for Anhidrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved 51-84-3 187
2
Ethanol Approved 64-17-5 702

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study of Norepinephrine in Patients With Congenital Insensitivity to Pain and Anhidrosis Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
2 Role of Indicator Test (Neuropad) in Detecting Diabetic Neuropathy Completed NCT00895440
3 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710

Search NIH Clinical Center for Anhidrosis

Genetic Tests for Anhidrosis

Anatomical Context for Anhidrosis

MalaCards organs/tissues related to Anhidrosis:

39
Skin, Testes, Lung, Neutrophil, Kidney, T Cells, Spinal Cord

Publications for Anhidrosis

Articles related to Anhidrosis:

(show top 50) (show all 308)
id Title Authors Year
1
Observation of water evaporation and stratum corneum hydration and pH during the clinical course of a patient with acquired idiopathic generalized anhidrosis. ( 28677824 )
2017
2
Case of autoimmune autonomic ganglionopathy manifesting anhidrosis. ( 28620980 )
2017
3
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
4
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. ( 28686597 )
2017
5
Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis. ( 28345382 )
2017
6
Unilateral facial and upper truncal anhidrosis and absence of physiological flushing: A case of idiopathic harlequin syndrome. ( 28799533 )
2017
7
Degranulation and shrinkage of dark cells in eccrine glands and elevated serum carcinoembryonic antigen in patients with acquired idiopathic generalized anhidrosis. ( 28662305 )
2017
8
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
9
Idiopathic segmental anhidrosis. ( 28541441 )
2017
10
Acquired anhidrosis associated with systemic sarcoidosis: Quantification of nerve fibers around eccrine glands by confocal microscopy. ( 28796884 )
2017
11
Evaluation of the correlation between severity of acquired idiopathic generalized anhidrosis and quality of life scores. ( 28328088 )
2017
12
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
13
An Innovative Cooling Jacket to Combat Heat Intolerance in Children with Anhidrosis. ( 28429544 )
2017
14
Prognosis of acquired idiopathic generalized anhidrosis. ( 28771990 )
2017
15
Skin Ultrastructural Findings in Acquired Generalized Hypohidrosis/Anhidrosis in a Patient with Subclinical SjAPgren Syndrome. ( 28448095 )
2017
16
Generalised Anhidrosis Secondary to Intracranial Haemorrhage. ( 27125348 )
2016
17
Clinical Analysis and Management of Acquired Idiopathic Generalized Anhidrosis. ( 27584965 )
2016
18
Congenital insensitivity to pain with anhidrosis in Sudanese children. ( 28096563 )
2016
19
Raeder's Paratrigeminal Syndrome: Headache and Horner's Lacking Anhidrosis. ( 26902244 )
2016
20
A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis (HSAN) Type IV - A Case Report. ( 27042602 )
2016
21
Revised guideline for the diagnosis and treatment of acquired idiopathic generalized anhidrosis in Japan. ( 27774633 )
2016
22
Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder. ( 27772759 )
2016
23
Acquired anhidrosis in a case of autoimmune autonomic ganglionopathy. ( 27774700 )
2016
24
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family. ( 27772781 )
2016
25
Orthopaedic manifestations of congenital indifference to pain with anhidrosis (Hereditary Sensory and Autonomic Neuropathy type IV). ( 27637569 )
2016
26
Harlequin syndrome with contralateral anhidrosis after an upper chest gunshot wound. ( 27535737 )
2016
27
Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation and mutation-dependent neurodegeneration by dysfunction of the autophagic flux. ( 27551041 )
2016
28
Congenital Insensitivity to Pain and Anhidrosis. ( 26848454 )
2016
29
Purple hands in multiple system atrophy: Global anhidrosis with preserved acral sweating. ( 27298449 )
2016
30
Idiopathic segmental anhidrosis associated with varicella. ( 27206820 )
2016
31
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis. ( 27584961 )
2016
32
Unilateral anhidrosis: A rare complication of thoracic epidural analgesia. ( 26612960 )
2016
33
Anhidrosis in multiple system atrophy involves pre- and postganglionic sudomotor dysfunction. ( 27859565 )
2016
34
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
35
Anesthetic considerations in a parturient with congenital insensitivity to pain with anhidrosis. ( 27884666 )
2016
36
Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report. ( 25984678 )
2015
37
Combined cholinergic urticaria and cold-induced cholinergic urticaria with acquired idiopathic generalized anhidrosis. ( 25838106 )
2015
38
A lady presenting with segmental anhidrosis and heat intolerance. ( 25821738 )
2015
39
Acquired Idiopathic Generalized Anhidrosis. ( 26288446 )
2015
40
Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis. ( 26579324 )
2015
41
Correlation of disease activity and serum level of carcinoembryonic antigen in acquired idiopathic generalized anhidrosis: A case report. ( 25958966 )
2015
42
Therapeutic effects and prevention of recurrence of acquired idiopathic generalized anhidrosis via i.v. immunoglobulin treatment. ( 26508392 )
2015
43
Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia. ( 26484462 )
2015
44
Congenital insensitivity to pain with anhidrosis. ( 26032179 )
2015
45
Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis. ( 25627679 )
2015
46
Congenital Insensitivity to Pain with Anhidrosis in Twin Sisters with Sensorineural Deafness. ( 25776000 )
2015
47
Serum carcinoembryonic antigen (CEA) as a clinical marker in acquired idiopathic generalized anhidrosis: a close correlation between serum CEA level and disease activity. ( 26446433 )
2015
48
Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management. ( 26457210 )
2015
49
A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis. ( 25519000 )
2014
50
A case of acquired idiopathic generalized anhidrosis in a 2-year-old infant. ( 24698553 )
2014

Variations for Anhidrosis

Expression for Anhidrosis

Search GEO for disease gene expression data for Anhidrosis.

Pathways for Anhidrosis

Pathways related to Anhidrosis according to GeneCards Suite gene sharing:

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.46 IKBKG ITPR2 NGF NGFR NTRK1 NTRK3
2
Show member pathways
13.27 IKBKG ITPR2 NGF NGFR NTRK1 NTRK3
3
Show member pathways
13.17 IKBKG NGF NGFR NTRK1 NTRK3
4
Show member pathways
13.07 ITPR2 NGF NGFR NTRK1 NTRK3
5
Show member pathways
13.05 IKBKG NGF NGFR NTRK1 NTRK3
6
Show member pathways
12.8 ITPR2 NGF NGFR NTRK1 NTRK3
7
Show member pathways
12.64 IKBKG ITPR2 NTRK1 NTRK3
8
Show member pathways
12.61 IKBKG ITPR2 NGF NGFR NTRK1 NTRK3
9
Show member pathways
12.57 NGF NGFR NTRK1 NTRK3
10
Show member pathways
12.53 IKBKG ITPR2 NGF NTRK1
11
Show member pathways
12.47 IKBKG ITPR2 NGF NGFR NTRK1
12
Show member pathways
12.4 IKBKG ITPR2 NGF NGFR
13
Show member pathways
12.39 NGF NGFR NTRK1 NTRK3
14 12.31 NGF NGFR NTRK1 NTRK3
15
Show member pathways
12.16 CHRM3 ITPR2 PKLR
16
Show member pathways
12.16 IKBKG NGFR NTRK1 NTRK3
18
Show member pathways
11.8 IKBKG NGF NGFR NTRK1
19 11.52 NGF NGFR NTRK1 NTRK3
20
Show member pathways
11.5 IKBKG NGF NGFR
21 11.47 ITPR2 NGF NTRK1 NTRK3
22
Show member pathways
11.4 IKBKG NGF NGFR
23 11.29 NTRK1 NTRK3
24 11.18 IKBKG NGF NGFR NTRK1 NTRK3
25 11.12 NGF NGFR
26
Show member pathways
11.04 NGF NGFR NTRK1 NTRK3
27
Show member pathways
10.57 NGF NTRK1

GO Terms for Anhidrosis

Cellular components related to Anhidrosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 ITPR2 NTRK1 NTRK3

Biological processes related to Anhidrosis according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.71 CHRM3 NGFR NTRK1 NTRK3
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.5 NGF NTRK1 NTRK3
3 negative regulation of neuron death GO:1901215 9.49 IKBKG NTRK1
4 activation of MAPKK activity GO:0000186 9.48 NGF NTRK1
5 response to axon injury GO:0048678 9.46 NTRK1 NTRK3
6 positive regulation of axonogenesis GO:0050772 9.43 NGF NGFR
7 positive regulation of Ras protein signal transduction GO:0046579 9.37 NGF NTRK1
8 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.26 NGF NGFR
9 mechanoreceptor differentiation GO:0042490 9.16 NTRK1 NTRK3
10 neurotrophin signaling pathway GO:0038179 8.96 NTRK1 NTRK3
11 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NGF NGFR NTRK1

Molecular functions related to Anhidrosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.32 NTRK1 NTRK3
2 GPI-linked ephrin receptor activity GO:0005004 9.26 NTRK1 NTRK3
3 nerve growth factor binding GO:0048406 9.16 NGFR NTRK1
4 neurotrophin receptor activity GO:0005030 8.96 NTRK1 NTRK3
5 neurotrophin binding GO:0043121 8.8 NGFR NTRK1 NTRK3

Sources for Anhidrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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