MCID: ANH002
MIFTS: 47

Anhidrosis

Categories: Skin diseases
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Aliases & Classifications for Anhidrosis

Summaries for Anhidrosis

Disease Ontology: 11 A hypohidrosis that is characterized by the inability to sweat and has symptom hyperthermia and dry skin.

MalaCards based summary: Anhidrosis, also known as hypohidrosis, is related to ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant, and has symptoms including hyperthermia and increased sweating. An important gene associated with Anhidrosis is NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include skin, spinal cord and prefrontal cortex, and related phenotypes are Decreased viability and Increased simian virus 40 (SV40) infection

Wikipedia: 75 Hypohidrosis is a disorder in which a person exhibits diminished sweating in response to appropriate... more...

Related Diseases for Anhidrosis

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

(show top 50) (show all 339)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 31.4 EDARADD EDAR
2 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.4 EDARADD EDAR
3 immunodeficiency 10 31.4 STIM2 STIM1 ORAI1
4 immunodeficiency 9 31.4 STIM1 ORAI1
5 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.3 EDARADD EDAR EDA
6 ectodermal dysplasia 1, hypohidrotic, x-linked 31.3 EDARADD EDAR EDA
7 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.3 EDARADD EDAR EDA
8 hereditary sensory neuropathy 31.3 SPTLC1 PRDM12 NTRK1 NGF
9 neuropathy, hereditary sensory and autonomic, type v 30.9 SPTLC1 PRDM12 NTRK1 NGFR NGF
10 sensory peripheral neuropathy 30.7 SPTLC1 NTRK1 NGF
11 neuropathy, hereditary sensory and autonomic, type iia 30.4 SPTLC1 NTRK1 NGF
12 autonomic neuropathy 30.3 SPTLC1 PRDM12 NTRK1 NGFR NGF
13 anodontia 30.3 EDARADD EDAR EDA
14 miliaria profunda 30.1 EDARADD EDAR
15 neurogenic arthropathy 30.0 SPTLC1 NTRK1 NGF
16 diabetic neuropathy 29.8 NTRK1 NGFR NGF MAPK8
17 ectodermal dysplasia 29.7 STIM1 ORAI1 MAPK8 EDARADD EDAR EDA
18 peripheral nervous system disease 29.6 SPTLC1 NTRK3 NTRK1 NGFR NGF
19 myopathy, tubular aggregate, 1 29.5 STIM2 STIM1 ORAI1
20 neuropathy, hereditary sensory and autonomic, type viii 29.4 SPTLC1 PRDM12
21 pompholyx 29.4 GLA EDARADD EDAR EDA
22 insensitivity to pain, congenital, with anhidrosis 11.8
23 anhidrosis, isolated, with normal sweat glands 11.6
24 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 11.5
25 shaheen syndrome 11.4
26 ectodermal dysplasia 14, hair/tooth type, with or without hypohidrosis 11.3
27 ameloonychohypohidrotic syndrome 11.3
28 van den bosch syndrome 11.3
29 ectodermal dysplasia 15, hypohidrotic/hair type 11.3
30 witkop syndrome 11.2
31 harlequin syndrome 11.2
32 horner's syndrome 11.2
33 marsili syndrome 11.2
34 dermatopathia pigmentosa reticularis 11.2
35 naegeli-franceschetti-jadassohn syndrome 11.1
36 hypohidrosis with abnormal palmar dermal ridges 11.1
37 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.1
38 lelis syndrome 11.1
39 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.1
40 ntrk1 congenital insensitivity to pain with anhidrosis 11.1
41 ectodermal dysplasia and immunodeficiency 1 11.0
42 ichthyosis, lamellar, autosomal dominant 11.0
43 horner syndrome, congenital 11.0
44 ichthyosis, congenital, autosomal recessive 11 11.0
45 ectodermal dysplasia and immunodeficiency 2 11.0
46 huriez syndrome 11.0
47 odontoonychodermal dysplasia 11.0
48 curly hair-acral keratoderma-caries syndrome 11.0
49 anhidrosis, familial generalized, with abnormal or absent sweat glands 11.0
50 aromatic l-amino acid decarboxylase deficiency 11.0

Graphical network of the top 20 diseases related to Anhidrosis:



Diseases related to Anhidrosis

Symptoms & Phenotypes for Anhidrosis

Symptoms:

11
  • hyperthermia

UMLS symptoms related to Anhidrosis:


increased sweating

GenomeRNAi Phenotypes related to Anhidrosis according to GeneCards Suite gene sharing:

25 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.21 MAPK1
2 Decreased viability GR00055-A-2 10.21 MAPK1
3 Decreased viability GR00221-A-1 10.21 MAPK1
4 Decreased viability GR00221-A-2 10.21 MAPK10
5 Decreased viability GR00221-A-3 10.21 ALPK1 MAPK1 MAPK10 NTRK1
6 Decreased viability GR00221-A-4 10.21 ALPK1 MAPK1
7 Decreased viability GR00249-S 10.21 MAPK1 MAPK10 NTRK1
8 Decreased viability GR00301-A 10.21 ALPK1 NTRK1
9 Decreased viability GR00342-S-1 10.21 MAPK1
10 Decreased viability GR00342-S-2 10.21 MAPK1
11 Decreased viability GR00342-S-3 10.21 MAPK1
12 no effect GR00402-S-1 10.19 ALPK1 CLDN10 EDA EDAR EDARADD GLA
13 no effect GR00402-S-2 10.19 ALPK1 CLDN10 EDA EDAR EDARADD GLA
14 Increased simian virus 40 (SV40) infection GR00356-A-2 8.96 NTRK3 PKLR
15 Increased telomerase activity GR00156-A 8.85 MAPK8

MGI Mouse Phenotypes related to Anhidrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.34 ALPK1 CLDN10 EDARADD GLA ITPR2 MAPK1
2 nervous system MP:0003631 10.33 EDA EDARADD GLA MAPK1 MAPK10 MAPK8
3 growth/size/body region MP:0005378 10.3 EDA EDAR EDARADD GLA ITPR2 MAPK1
4 behavior/neurological MP:0005386 10.16 CLDN10 EDARADD GLA ITPR2 MAPK1 MAPK10
5 cardiovascular system MP:0005385 10.13 EDA EDAR GLA ITPR2 MAPK1 MAPK10
6 vision/eye MP:0005391 10 EDA EDAR EDARADD GLA MAPK1 MAPK8
7 mortality/aging MP:0010768 9.89 EDA EDAR EDARADD GLA ITPR2 MAPK1
8 hearing/vestibular/ear MP:0005377 9.88 EDARADD MAPK1 NGFR NTRK1 NTRK3 STIM2
9 integument MP:0010771 9.4 EDA EDAR EDARADD ITPR2 MAPK1 MAPK8

Drugs & Therapeutics for Anhidrosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Randomized, Double Blind, Cross-over, Placebo-controlled Study on Norepinephrine Replenishment Therapy Using L-DOPS in Congenital Insensitivity to Pain With Anhidrosis Patients Withdrawn NCT02624310 Phase 2 Droxidopa (L-DOPS);Placebo
2 A Phase 0 Study to Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cells (PBMC) From Subjects With Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and Headache (ROSAH) Syndrome. Recruiting NCT05319132

Search NIH Clinical Center for Anhidrosis

Cochrane evidence based reviews: hypohidrosis

Genetic Tests for Anhidrosis

Anatomical Context for Anhidrosis

Organs/tissues related to Anhidrosis:

MalaCards : Skin, Spinal Cord, Prefrontal Cortex, Pituitary, Thyroid, Lymph Node, Lung

Publications for Anhidrosis

Articles related to Anhidrosis:

(show top 50) (show all 1510)
# Title Authors PMID Year
1
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 53 62
19651702 2009
2
Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis. 53 62
19201660 2009
3
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. 53 62
19089473 2009
4
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. 53 62
19127222 2009
5
Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene. 53 62
19250380 2009
6
Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. 53 62
18955016 2009
7
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis. 53 62
18077166 2008
8
Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis. 53 62
16279365 2005
9
Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them. 53 62
16138253 2005
10
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. 53 62
15468048 2004
11
A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). 53 62
15163901 2004
12
Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. 53 62
15114061 2004
13
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. 53 62
15078381 2004
14
Neurotrophic factors and their receptors in human sensory neuropathies. 53 62
14699981 2004
15
An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. 53 62
12949319 2003
16
RET and NTRK1 proto-oncogenes in human diseases. 53 62
12652644 2003
17
Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. 53 62
11748840 2001
18
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. 53 62
11744315 2001
19
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. 53 62
11668614 2001
20
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. 53 62
11159935 2001
21
Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15. 53 62
11139246 2001
22
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. 53 62
11071380 2000
23
Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families. 53 62
10982191 2000
24
The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor. 53 62
10567924 2000
25
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. 53 62
10330344 1999
26
A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis. 53 62
10233776 1999
27
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 53 62
10090906 1999
28
Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor. 53 62
9290260 1997
29
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 53 62
8696348 1996
30
Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response. 53 62
8726095 1996
31
Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring. 62
36202174 2023
32
Polycystic kidney disease complicates renal pathology in a family with Fabry disease. 62
36406818 2022
33
Analysis of the efficacy of the da Vinci robot in surgery for posterior mediastinal neurogenic tumors. 62
36474200 2022
34
Chronic reduction of store operated Ca2+ entry is viable therapeutically but is associated with cardiovascular complications. 62
36181482 2022
35
Ophthalmic manifestations of ROSAH Syndrome, an inherited NF-κB mediated autoinflammatory disease with retinal dystrophy. 62
36332842 2022
36
Impact of the COVID-19 pandemic on families of patients with congenital insensitivity to pain with anhidrosis. 62
36371639 2022
37
Congenital Insensitivity to Pain With Anhidrosis: A Case Report and Review of the Pertinent Literature. 62
36475157 2022
38
A Boy Who Knows No Pain: Anaesthetic Management of Congenital Insensitivity to Pain With Anhidrosis. 62
36447712 2022
39
Cross-sectional study of cholinergic urticaria subtypes and bronchial hyperresponsiveness. 62
36302805 2022
40
Focal hypohidrosis in lesional skin in a probable case of confluent and reticulated papillomatosis: A case report with insight into the pathomechanism of recurrence. 62
36261762 2022
41
Less Typical Courses of Rhodococcus equi Infections in Foals. 62
36356082 2022
42
Clinicopathological digital image analyses before and after thermal stimulation subdivide acquired idiopathic generalized anhidrosis into inflammatory and non-inflammatory type. 62
36244887 2022
43
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. 62
35868845 2022
44
Impact of claudin-10 deficiency on amelogenesis: Lesson from a HELIX tooth. 62
35902997 2022
45
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity. 62
36258277 2022
46
Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly. 62
35873018 2022
47
Central nervous system aspergillosis misdiagnosed as Toxoplasma gondii encephalitis in a patient with AIDS: a case report. 62
36076296 2022
48
Cholinergic Urticaria: Subtype Classification and Clinical Approach. 62
36107396 2022
49
Delayed Horner's Syndrome After Multiple Penetrating Stab Injury of the Neck. 62
36053894 2022
50
Horner's Syndrome as a Complication of Ultrasound-Guided Central Cannulation: A Case Report. 62
36204040 2022

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 top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 ALPK1 EDA EDAR EDARADD GLA ITPR2
2
Show member pathways
13.68 NTRK3 NTRK1 NGFR NGF MAPK8 MAPK10
3
Show member pathways
13.51 NTRK3 NTRK1 NGFR NGF MAPK8 MAPK10
4
Show member pathways
13.29 ALPK1 EDA EDAR EDARADD MAPK1 MAPK10
5
Show member pathways
13.26 NTRK3 NTRK1 NGFR NGF MAPK8 MAPK10
6
Show member pathways
13.24 NTRK3 NTRK1 NGF MAPK8 MAPK10 MAPK1
7
Show member pathways
13.04 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
8
Show member pathways
12.89 NGFR NGF MAPK8 MAPK10 MAPK1 ITPR2
9
Show member pathways
12.86 NGFR NGF MAPK8 MAPK10 MAPK1
10
Show member pathways
12.82 NTRK3 NTRK1 MAPK8 MAPK10 MAPK1 ITPR2
11 12.81 NTRK3 NTRK1 NGF MAPK1 ITPR2
12
Show member pathways
12.74 NTRK3 NTRK1 NGFR NGF MAPK8 MAPK10
13
Show member pathways
12.61 MAPK1 NGF NGFR NTRK1 NTRK3
14 12.57 NTRK1 NGFR NGF MAPK8 MAPK10 MAPK1
15 12.56 NTRK3 NTRK1 NGFR NGF
16
Show member pathways
12.53 NTRK3 NTRK1 NGF MAPK1
17
Show member pathways
12.5 NTRK3 NTRK1 NGFR NGF MAPK1
18
Show member pathways
12.41 MAPK8 MAPK10 MAPK1 ITPR2
19
Show member pathways
12.37 MAPK8 MAPK10 MAPK1 ITPR2
20
Show member pathways
12.35 NTRK3 NTRK1 NGFR MAPK8 MAPK10
21
Show member pathways
12.31 MAPK8 MAPK10 MAPK1 ITPR2
22
Show member pathways
12.3 MAPK8 MAPK10 MAPK1 ITPR2
23 12.28 NTRK1 NGF MAPK8 MAPK10 MAPK1
24
Show member pathways
12.27 MAPK1 MAPK10 MAPK8 NGF NTRK1 NTRK3
25
Show member pathways
12.19 MAPK8 MAPK10 MAPK1 ITPR2
26
Show member pathways
12.16 MAPK8 MAPK10 MAPK1 ITPR2
27
Show member pathways
12.14 MAPK8 MAPK10 MAPK1
28 12.09 NTRK1 NGFR MAPK8 MAPK10 MAPK1
29
Show member pathways
11.99 MAPK8 MAPK10 MAPK1
30
Show member pathways
11.99 ITPR2 MAPK1 MAPK10 MAPK8
31 11.95 MAPK8 MAPK10 MAPK1
32 11.95 NTRK3 NTRK1 NGFR NGF
33
Show member pathways
11.93 NTRK3 NTRK1 NGFR NGF MAPK8 MAPK10
34
Show member pathways
11.92 MAPK8 MAPK10 MAPK1 ITPR2
35
Show member pathways
11.91 NTRK1 NGF MAPK1
36 11.9 MAPK8 MAPK10 MAPK1
37 11.87 MAPK8 MAPK10 MAPK1
38
Show member pathways
11.84 NTRK1 NGFR NGF MAPK8 MAPK10 MAPK1
39
Show member pathways
11.82 NGFR NGF MAPK8 MAPK10 MAPK1 ITPR2
40
Show member pathways
11.79 MAPK8 MAPK10 MAPK1
41 11.76 MAPK1 MAPK10 MAPK8
42
Show member pathways
11.76 MAPK1 MAPK10 MAPK8
43 11.73 MAPK8 MAPK10 MAPK1
44
Show member pathways
11.72 MAPK8 MAPK10 MAPK1
45 11.7 NTRK3 NTRK1 NGF MAPK1 ITPR2
46
Show member pathways
11.65 MAPK8 MAPK10 MAPK1 ITPR2
47
Show member pathways
11.59 MAPK8 MAPK10 MAPK1
48 11.59 MAPK8 MAPK10 MAPK1
49 11.56 NTRK3 NTRK1 NGF
50
Show member pathways
11.52 NTRK1 NGFR NGF MAPK8

GO Terms for Anhidrosis

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 10.24 NTRK3 NTRK1 MAPK8 MAPK10 MAPK1 ALPK1
2 positive regulation of gene expression GO:0010628 10.21 EDA EDAR MAPK1 MAPK8 NGF NTRK3
3 odontogenesis of dentin-containing tooth GO:0042475 9.93 NGFR EDAR EDA
4 positive regulation of adenylate cyclase activity GO:0045762 9.78 STIM1 ORAI1
5 hair follicle development GO:0001942 9.71 NGFR EDAR EDA
6 activation of store-operated calcium channel activity GO:0032237 9.67 STIM2 STIM1
7 salivary gland cavitation GO:0060662 9.62 EDAR EDA
8 calcium ion transport GO:0006816 9.56 STIM2 STIM1 ORAI1 ITPR2
9 phosphorylation GO:0016310 9.5 PKLR NTRK3 NTRK1 MAPK8 MAPK10 MAPK1
10 neurotrophin signaling pathway GO:0038179 9.33 NTRK3 NTRK1
11 store-operated calcium entry GO:0002115 9.1 STIM2 STIM1 ORAI1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 ALPK1 MAPK1 MAPK10 MAPK8 NTRK1 NTRK3
2 store-operated calcium channel activity GO:0015279 9.76 STIM2 ORAI1
3 GPI-linked ephrin receptor activity GO:0005004 9.73 NTRK3 NTRK1
4 nerve growth factor binding GO:0048406 9.71 NTRK1 NGFR
5 neurotrophin receptor activity GO:0005030 9.67 NTRK3 NTRK1
6 MAP kinase activity GO:0004707 9.63 MAPK8 MAPK10 MAPK1
7 JUN kinase activity GO:0004705 9.62 MAPK8 MAPK10
8 kinase activity GO:0016301 9.56 PKLR NTRK3 NTRK1 MAPK8 MAPK10 MAPK1
9 neurotrophin binding GO:0043121 9.1 NTRK3 NTRK1 NGFR

Sources for Anhidrosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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