Aliases & Classifications for Anhidrosis

MalaCards integrated aliases for Anhidrosis:

Name: Anhidrosis 12 54 15 39 17 70 32
Hypohidrosis 44 17 70
Absence of Sweating 12
Adiaphoresis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11156
ICD9CM 34 705.0
MeSH 44 D007007
NCIt 50 C34385
SNOMED-CT 67 201189007
ICD10 32 L74.4
UMLS 70 C0003028 C0020620

Summaries for Anhidrosis

Disease Ontology : 12 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 11a, hypohidrotic/hair/tooth type, autosomal dominant and ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, 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 GPCR Pathway and PEDF Induced Signaling. Affiliated tissues include skin, spinal cord and pituitary, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 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 273)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 30.6 EDARADD EDAR EDA
2 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 30.6 EDARADD EDAR EDA
3 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 30.5 EDARADD EDAR EDA
4 ectodermal dysplasia 1, hypohidrotic, x-linked 30.5 EDARADD EDAR EDA
5 cholinergic urticaria 30.5 CHRM3 ACHE
6 neuropathy, hereditary sensory and autonomic, type v 30.4 NTRK1 NGFR NGF
7 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.4 IKBKG EDARADD EDAR EDA
8 prurigo nodularis 30.0 NGFR NGF
9 diabetic neuropathy 29.8 NTRK1 NGFR NGF
10 peripheral nervous system disease 29.7 NTRK3 NTRK1 NGFR NGF ACHE
11 anodontia 29.4 IKBKG EDARADD EDAR EDA
12 incontinentia pigmenti 29.3 IKBKG EDAR EDA
13 ectodermal dysplasia 29.3 ORAI1 IKBKG EDARADD EDAR EDA
14 tooth agenesis 28.9 IKBKG EDARADD EDAR EDA
15 insensitivity to pain, congenital, with anhidrosis 11.8
16 anhidrosis, isolated, with normal sweat glands 11.6
17 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 11.4
18 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 11.3
19 shaheen syndrome 11.3
20 ectodermal dysplasia 15, hypohidrotic/hair type 11.2
21 witkop syndrome 11.2
22 harlequin syndrome 11.2
23 ameloonychohypohidrotic syndrome 11.2
24 van den bosch syndrome 11.2
25 dermatopathia pigmentosa reticularis 11.1
26 hypohidrosis with abnormal palmar dermal ridges 11.1
27 ntrk1 congenital insensitivity to pain with anhidrosis 11.1
28 horner's syndrome 11.0
29 bazex syndrome 11.0
30 naegeli-franceschetti-jadassohn syndrome 11.0
31 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 11.0
32 ichthyosis, lamellar, autosomal dominant 11.0
33 ectodermal dysplasia and immunodeficiency 1 11.0
34 hereditary sensory neuropathy 11.0
35 limb-mammary syndrome 11.0
36 lelis syndrome 11.0
37 anhidrosis, familial generalized, with abnormal or absent sweat glands 10.9
38 autosomal recessive congenital ichthyosis 10.9
39 helix syndrome 10.9
40 pain sensitivity quantitative trait locus 1 10.9
41 ankyloblepharon-ectodermal defects-cleft lip/palate 10.8
42 basan syndrome 10.8
43 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.8
44 cleft lip/palate-ectodermal dysplasia syndrome 10.8
45 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.8
46 immunodeficiency 10 10.8
47 ichthyosis follicularis atrichia photophobia syndrome 10.8
48 naegeli-franceschetti-jadassohn syndrome/dermatopathia pigmentosa reticularis 10.8
49 horner syndrome, congenital 10.8
50 ichthyosis, congenital, autosomal recessive 2 10.8

Graphical network of the top 20 diseases related to Anhidrosis:



Diseases related to Anhidrosis

Symptoms & Phenotypes for Anhidrosis

Symptoms:

12
  • hyperthermia

UMLS symptoms related to Anhidrosis:


increased sweating

MGI Mouse Phenotypes related to Anhidrosis:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ACHE CHRM3 CLDN10 COG6 EDARADD GLA
2 growth/size/body region MP:0005378 10.32 ACHE CHRM3 EDAR EDARADD GLA IKBKG
3 homeostasis/metabolism MP:0005376 10.28 ACHE CHRM3 CLDN10 COG6 EDARADD GLA
4 cardiovascular system MP:0005385 10.24 ACHE CHRM3 COG6 EDAR GLA IKBKG
5 mortality/aging MP:0010768 10.21 ACHE EDAR EDARADD GLA IKBKG INSRR
6 integument MP:0010771 10.1 COG6 EDAR EDARADD IKBKG ITPR2 MAPK1
7 nervous system MP:0003631 10 ACHE CHRM3 COG6 EDARADD GLA MAPK1
8 hearing/vestibular/ear MP:0005377 9.93 ACHE EDARADD MAPK1 NGFR NTRK1 NTRK3
9 muscle MP:0005369 9.87 ACHE CHRM3 GLA MAPK1 NGF NGFR
10 normal MP:0002873 9.81 COG6 IKBKG INSRR ITPR2 NGF NGFR
11 vision/eye MP:0005391 9.4 ACHE CHRM3 COG6 EDAR EDARADD GLA
12 pigmentation MP:0001186 9.35 COG6 EDAR EDARADD IKBKG NTRK1

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

Search NIH Clinical Center for Anhidrosis

Cochrane evidence based reviews: hypohidrosis

Genetic Tests for Anhidrosis

Anatomical Context for Anhidrosis

MalaCards organs/tissues related to Anhidrosis:

40
Skin, Spinal Cord, Pituitary, Thyroid, Kidney, Breast, Tongue

Publications for Anhidrosis

Articles related to Anhidrosis:

(show top 50) (show all 1333)
# Title Authors PMID Year
1
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. 54 61
19651702 2009
2
Nerve growth factor, interoception, and sympathetic neuron: lesson from congenital insensitivity to pain with anhidrosis. 54 61
19201660 2009
3
Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. 54 61
19127222 2009
4
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. 61 54
19089473 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. 61 54
19250380 2009
6
Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. 61 54
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. 61 54
18077166 2008
8
Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis. 61 54
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. 54 61
16138253 2005
10
Familial insensitivity to pain (HSAN V) and a mutation in the NGFB gene. A neurophysiological and pathological study. 54 61
15468048 2004
11
A novel lymphocyte signaling defect: trk A mutation in the syndrome of congenital insensitivity to pain and anhidrosis (CIPA). 54 61
15163901 2004
12
Anti-apoptotic effect of nerve growth factor is lost in congenital insensitivity to pain with anhidrosis (CIPA) B lymphocytes. 54 61
15114061 2004
13
The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. 54 61
15078381 2004
14
Neurotrophic factors and their receptors in human sensory neuropathies. 54 61
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. 54 61
12949319 2003
16
RET and NTRK1 proto-oncogenes in human diseases. 54 61
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. 61 54
11748840 2001
18
Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. 54 61
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. 61 54
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. 61 54
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. 54 61
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. 61 54
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. 54 61
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. 61 54
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. 54 61
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. 61 54
10233776 1999
27
A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. 54 61
10090906 1999
28
Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor. 61 54
9290260 1997
29
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. 54 61
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. 54 61
8726095 1996
31
New mutation in Fabry disease: c.448delG, first phenotypic description. 61
33732617 2021
32
[Clinical features and enzyme replacement therapy in 4 children with Fabry disease]. 61
33775053 2021
33
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. 61
33394555 2021
34
Clear cell injury associated with reduced expression of carbonic anhydrase II in eccrine glands consistently occurs in patients with acquired idiopathic generalized anhidrosis. 61
33454997 2021
35
High thoracic ossification of ligamentum flavum causing partial Horner syndrome. 61
29490510 2021
36
Prognosis after steroid pulse therapy and seasonal effect in acquired idiopathic generalized anhidrosis. 61
33146891 2021
37
A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome. 61
33675844 2021
38
Reduced Myocardial Uptake of 123I-MIBG in Congenital Insensitivity to Pain With Anhidrosis. 61
33351513 2021
39
Skeletal complications in congenital insensitivity to pain and anhidrosis: a problem to reckon with. 61
33738666 2021
40
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy. 61
33437642 2021
41
High incidence of adnexotropism in cytotoxic cutaneous lymphomas. 61
33759218 2021
42
Ocular manifestations of congenital insensitivity to pain: a long-term follow-up. 61
33753408 2021
43
Hypohidrosis in the macules in tuberous sclerosis complex and neurofibromatosis. 61
33368630 2021
44
Isolated anhidrosis of an upper limb in a patient with lung cancer: "One-sleeve shirt sign". 61
33752233 2021
45
[Phenotypic and genetic analysis of a case with hypohidrotic ectodermal dysplasia due to Xq13.1 microdeletion]. 61
33751528 2021
46
My Treatment Approach to Multiple System Atrophy. 61
33673922 2021
47
Electrodiagnostic assessment of the autonomic nervous system: A consensus statement endorsed by the American Autonomic Society, American Academy of Neurology, and the International Federation of Clinical Neurophysiology. 61
33419664 2021
48
No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia. 61
33622384 2021
49
A classic variant of Fabry disease in a family with the M296I late-onset variant. 61
32902816 2021
50
Ectodermal Dysplasia Presenting as Heat Exhaustion in an Adolescent Boy. 61
33767934 2021

Variations for Anhidrosis

ClinVar genetic disease variations for Anhidrosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COG6 NM_020751.3(COG6):c.1167-24A>G SNV Likely pathogenic 183333 rs730882236 GRCh37: 13:40273614-40273614
GRCh38: 13:39699477-39699477

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 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
2
Show member pathways
13.53 NTRK3 NTRK1 NGFR NGF MAPK1 INSRR
3
Show member pathways
13.44 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
4
Show member pathways
13.2 NTRK3 NTRK1 NGF MAPK1 ITPR2 INSRR
5
Show member pathways
13.19 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
6
Show member pathways
12.95 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
7
Show member pathways
12.91 NTRK1 NGFR NGF MAPK1 IKBKG
8
Show member pathways
12.86 NTRK3 NTRK1 NGFR NGF MAPK1 ITPR2
9
Show member pathways
12.78 NTRK3 NTRK1 MAPK1 ITPR2 IKBKG
10 12.66 NTRK1 NGFR NGF MAPK1 IKBKG
11
Show member pathways
12.6 NTRK1 NGFR NGF MAPK1 IKBKG
12
Show member pathways
12.58 NTRK3 NTRK1 NGFR NGF MAPK1
13
Show member pathways
12.54 NTRK1 NGF MAPK1 ITPR2
14 12.5 NTRK3 NTRK1 NGFR NGF
15
Show member pathways
12.5 NTRK1 NGFR NGF MAPK1 ITPR2 IKBKG
16
Show member pathways
12.43 NTRK3 NTRK1 NGFR NGF MAPK1
17
Show member pathways
12.36 NTRK3 NTRK1 NGFR IKBKG
18
Show member pathways
12.31 NTRK3 NTRK1 NGF MAPK1 INSRR
19
Show member pathways
12.23 NGFR NGF MAPK1 ITPR2 IKBKG EDAR
20 12.18 ORAI1 NTRK3 NTRK1 NGF ITPR2 CHRM3
21
Show member pathways
12.17 NTRK3 NTRK1 NGFR NGF
22
Show member pathways
12.14 NTRK3 NTRK1 MAPK1 INSRR
23
Show member pathways
11.95 NTRK1 NGFR NGF MAPK1 IKBKG
24 11.94 ORAI1 MAPK1 ITPR2
25 11.86 NTRK3 NTRK1 NGFR NGF
26 11.77 IKBKG EDARADD EDAR EDA
27
Show member pathways
11.69 NTRK1 NGF MAPK1
28
Show member pathways
11.66 NGFR NGF IKBKG
29 11.63 NTRK3 NTRK1 MAPK1
30 11.6 NTRK3 NTRK1 NGF MAPK1 ITPR2
31
Show member pathways
11.58 NGFR NGF IKBKG
32
Show member pathways
11.57 NGFR NGF EDARADD EDAR EDA
33 11.35 NTRK3 NTRK1 MAPK1
34 11.26 NTRK3 NTRK1 NGFR NGF MAPK1 IKBKG
35
Show member pathways
11.14 NTRK3 NTRK1 NGFR NGF MAPK1
36 10.94 NTRK3 NTRK1 NGF MAPK1 INSRR
37 10.72 MAPK1 IKBKG
38
Show member pathways
10.67 NTRK1 NGF

GO Terms for Anhidrosis

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.7 ORAI1 NTRK3 NTRK1 NGFR INSRR EDA
2 receptor complex GO:0043235 9.26 NTRK3 NTRK1 ITPR2 INSRR
3 axon GO:0030424 9.02 NTRK3 NTRK1 NGF MAPK1 INSRR

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.01 NTRK3 NTRK1 NGFR EDARADD EDAR EDA
2 multicellular organism development GO:0007275 9.91 NTRK3 NTRK1 NGFR INSRR EDARADD EDAR
3 nervous system development GO:0007399 9.89 NTRK3 NTRK1 NGFR CHRM3 ACHE
4 positive regulation of gene expression GO:0010628 9.85 NTRK3 NGF MAPK1 EDAR EDA
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.74 EDARADD EDAR EDA
6 positive regulation of kinase activity GO:0033674 9.61 NTRK3 NTRK1 INSRR
7 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.58 EDARADD EDAR EDA
8 regulation of protein kinase B signaling GO:0051896 9.56 NTRK3 NTRK1
9 nerve development GO:0021675 9.55 NGFR NGF
10 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.52 NGFR NGF
11 nerve growth factor signaling pathway GO:0038180 9.51 NTRK1 NGF
12 acetylcholine receptor signaling pathway GO:0095500 9.48 CHRM3 ACHE
13 activation of MAPKK activity GO:0000186 9.43 NTRK1 NGF MAPK1
14 salivary gland cavitation GO:0060662 9.32 EDAR EDA
15 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.26 NTRK3 NTRK1 NGF INSRR
16 neurotrophin signaling pathway GO:0038179 9.16 NTRK3 NTRK1
17 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NTRK1 NGFR NGF

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.36 UGGT2 PKLR ORAI1 NTRK3 NTRK1 NGFR
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 NTRK3 NTRK1 INSRR
3 acetylcholine binding GO:0042166 9.37 CHRM3 ACHE
4 GPI-linked ephrin receptor activity GO:0005004 9.32 NTRK3 NTRK1
5 nerve growth factor binding GO:0048406 9.16 NTRK1 NGFR
6 neurotrophin receptor activity GO:0005030 8.96 NTRK3 NTRK1
7 neurotrophin binding GO:0043121 8.8 NTRK3 NTRK1 NGFR

Sources for Anhidrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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