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MCID: ANH002
MIFTS: 52

Anhidrosis

Categories: Skin diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Anhidrosis

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MalaCards integrated aliases for Anhidrosis:

Name: Anhidrosis 12 30 56 15 41 17 74
Hypohidrosis 45 17
Absence of Sweating 12
Adiaphoresis 12

Classifications:

MalaCards categories:
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:11156
ICD9CM 36 705.0
MeSH 45 D007007
NCIt 51 C34385
SNOMED-CT 69 14662005 39659002
ICD10 34 L74.4
UMLS 74 C0003028
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Summaries for Anhidrosis

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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 hereditary sensory neuropathy and ectodermal dysplasia 10b, 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 TGF-Beta Pathway and Phospholipase-C Pathway. The drugs Peripheral Nervous System Agents and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 Hypohidrosis is disorder in which a person exhibits diminished sweating in response to appropriate... more...

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Related Diseases for Anhidrosis

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

(show top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 hereditary sensory neuropathy 32.2 NGF NTRK1
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.7 EDA IKBKG
3 neuropathy, hereditary sensory and autonomic, type v 31.3 NGF NGFR NTRK1
4 sensory peripheral neuropathy 30.5 NGF NTRK1
5 autonomic neuropathy 30.4 NGF NTRK1
6 prurigo nodularis 30.0 NGF NGFR
7 diabetic neuropathy 29.9 NGF NTRK1
8 insensitivity to pain, congenital, with anhidrosis 12.7
9 anhidrosis, isolated, with normal sweat glands 12.5
10 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 12.4
11 hypohidrosis with abnormal palmar dermal ridges 12.3
12 anhidrosis, familial generalized, with abnormal or absent sweat glands 12.1
13 shaheen syndrome 11.7
14 harlequin syndrome 11.7
15 van den bosch syndrome 11.6
16 naegeli-franceschetti-jadassohn syndrome 11.4
17 bazex syndrome 11.4
18 witkop syndrome 11.4
19 horner's syndrome 11.3
20 ectodermal dysplasia 1, hypohidrotic, x-linked 11.3
21 dermatopathia pigmentosa reticularis 11.1
22 lelis syndrome 11.1
23 ameloonychohypohidrotic syndrome 11.1
24 ankyloblepharon-ectodermal defects-cleft lip/palate 10.9
25 rapp-hodgkin syndrome 10.9
26 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.9
27 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.9
28 limb-mammary syndrome 10.9
29 immunodeficiency 10 10.9
30 poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 10.9
31 autosomal recessive congenital ichthyosis 10.9
32 ichthyosis follicularis atrichia photophobia syndrome 10.9
33 zlotogora syndrome 10.9
34 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.9
35 horner syndrome, congenital 10.9
36 neuropathy, hereditary sensory and autonomic, type iia 10.9
37 ichthyosis, congenital, autosomal recessive 2 10.9
38 ichthyosis, congenital, autosomal recessive 1 10.9
39 ectodermal dysplasia and immunodeficiency 1 10.9
40 ichthyosis, congenital, autosomal recessive 4a 10.9
41 ichthyosis, congenital, autosomal recessive 11 10.9
42 ichthyosis, congenital, autosomal recessive 5 10.9
43 ichthyosis, congenital, autosomal recessive 3 10.9
44 ectodermal dysplasia and immunodeficiency 2 10.9
45 ichthyosis, congenital, autosomal recessive 6 10.9
46 immunodeficiency 9 10.9
47 ichthyosis, congenital, autosomal recessive 8 10.9
48 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.9
49 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.9
50 splenomegaly, cytopenia, and vision loss 10.9

Graphical network of the top 20 diseases related to Anhidrosis:



Diseases related to Anhidrosis
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Symptoms & Phenotypes for Anhidrosis

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Symptoms:

12
  • • hyperthermia

UMLS symptoms related to Anhidrosis:


increased sweating

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

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 EDA IKBKG
2 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 IKBKG
3 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 NGF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.58 NGF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 NGF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 EDA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.58 NGF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.58 IKBKG
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 EDA IKBKG NGF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 NGF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 IKBKG
12 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.58 IKBKG
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.58 NGF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 EDA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 EDA

MGI Mouse Phenotypes related to Anhidrosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 CHRM3 CLDN10 GLA IKBKG ITPR2 NGF
2 growth/size/body region MP:0005378 9.87 CHRM3 GLA IKBKG ITPR2 NGF NGFR
3 cardiovascular system MP:0005385 9.85 CHRM3 GLA IKBKG ITPR2 NGF NGFR
4 homeostasis/metabolism MP:0005376 9.8 CHRM3 CLDN10 GLA IKBKG ITPR2 NGF
5 integument MP:0010771 9.55 IKBKG ITPR2 NGF NGFR NTRK1
6 muscle MP:0005369 9.35 CHRM3 GLA NGF NGFR NTRK1
7 vision/eye MP:0005391 9.02 CHRM3 GLA NGF NGFR NTRK1
Sources

Drugs & Therapeutics for Anhidrosis

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Peripheral Nervous System Agents Phase 2,Not Applicable
2 Neurotransmitter Agents Phase 2,Not Applicable
3 Vasoconstrictor Agents Phase 2
4
Ketamine Approved, Vet_approved Not Applicable 6740-88-1 3821
5
Midazolam Approved, Illicit Not Applicable 59467-70-8 4192
6
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
7
Povidone Approved 9003-39-8
8
Mepivacaine Approved, Vet_approved ,Not Applicable 96-88-8 4062
9
Ropivacaine Approved 84057-95-4 71273 175805
10
Ethanol Approved Not Applicable 64-17-5 702
11
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
12 Analgesics Not Applicable
13 Adjuvants, Anesthesia Not Applicable
14 GABA Modulators Not Applicable
15 Anti-Anxiety Agents Not Applicable
16 Anesthetics, General Not Applicable
17 Diuretics, Potassium Sparing Not Applicable
18 GABA Agents Not Applicable
19 Excitatory Amino Acids Not Applicable
20 Hypnotics and Sedatives Not Applicable
21 Tranquilizing Agents Not Applicable
22 Anesthetics, Dissociative Not Applicable
23 Anesthetics, Intravenous Not Applicable
24 Anesthetics, Local Not Applicable
25 Anesthetics Not Applicable
26 Psychotropic Drugs Not Applicable
27 Sodium Channel Blockers Not Applicable
28 Anti-Arrhythmia Agents Not Applicable
29 Central Nervous System Depressants Not Applicable
30 Excitatory Amino Acid Antagonists Not Applicable
31 Antihypertensive Agents

Interventional clinical trials:


# 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 Interscalene Nerve Block vs. Sedation for Shoulder Dislocation Reduction Unknown status NCT03041506 Not Applicable Lidocaine;Midazolam;Ketamine
3 Analysis of the Sweat Response According to the Pathology in Neurologic Patients Completed NCT03639909
4 Role of Indicator Test (Neuropad) in Detecting Diabetic Neuropathy Completed NCT00895440
5 Predictive Factors for Hypotensive Bradycardic Events During Arthroscopic Shoulder Surgery Completed NCT01926561
6 Clinical Efficacy of Supraclavicular Block for Arthroscopic Shoulder Surgery Completed NCT01958801 Not Applicable
7 Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan Recruiting NCT02985710 Not Applicable

Search NIH Clinical Center for Anhidrosis

Cochrane evidence based reviews: hypohidrosis

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Genetic Tests for Anhidrosis

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Genetic tests related to Anhidrosis:

# Genetic test Affiliating Genes
1 Anhidrosis 30
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Anatomical Context for Anhidrosis

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MalaCards organs/tissues related to Anhidrosis:

42
Skin, Testes, Lung, Kidney, Bone, Spinal Cord, T Cells
Sources

Publications for Anhidrosis

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Articles related to Anhidrosis:

(show top 50) (show all 342)
# Title Authors Year
1
Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation. ( 30677517 )
2019
2
Image Gallery: Acquired anhidrosis associated with alcohol-related peripheral neuropathy, a potential cause of anhidrosis due to reduced innervation of eccrine glands. ( 30714116 )
2019
3
Digital Amputation by Congenital Insensitivity to Pain with Anhidrosis. ( 30737035 )
2019
4
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis. ( 30774415 )
2019
5
Unilateral Anhidrosis With Ipsilateral Basal Cell Carcinomas. ( 30883478 )
2019
6
Dyshidrosis associated with diabetes mellitus: Hypohidrosis associated with diabetic neuropathy and compensated hyperhidrosis. ( 30859595 )
2019
7
Corticosteroid-resistant prurigo nodularis: a rare syringotropic variant associated with hypohidrosis. ( 30827950 )
2019
8
Hemodynamic Response to Massive Bleeding in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29971168 )
2018
9
Successful treatment of chronic intractable pain with risperidone in a patient with acquired idiopathic generalized anhidrosis. ( 29446147 )
2018
10
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review. ( 29619836 )
2018
11
Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis. ( 29770739 )
2018
12
Acquired idiopathic generalised anhidrosis: A rare cause of sweating deficiency. ( 29732530 )
2018
13
NGF-dependent neurons and neurobiology of emotions and feelings: Lessons from congenital insensitivity to pain with anhidrosis. ( 29407522 )
2018
14
Acquired idiopathic generalized anhidrosis in a young Austrian patient. ( 29687054 )
2018
15
A Case of Congenital Insensitivity to Pain With Anhidrosis Comorbid With Attention Deficit Hyperactivity Disorder: Clinical Implications for Pathophysiology and Treatment. ( 29595626 )
2018
16
Congenital Loss of Permanent Teeth in a Patient With Congenital Insensitivity to Pain With Anhidrosis due to 2 Novel Mutations in the NTRK1 Gene. ( 30075136 )
2018
17
Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA). ( 30201336 )
2018
18
Generalized anhidrosis as first clinical presentation of systemic lupus erythematosus. ( 30282559 )
2018
19
Case of generalized anhidrosis associated with diffuse reticular hyperpigmentation and syndactyly. ( 30447014 )
2018
20
Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. ( 30461622 )
2018
21
Postoperative redislocation of the hip in a patient with congenital insensitivity to pain with anhidrosis: A case report and review of literature. ( 30510952 )
2018
22
Serum carcinoembryonic antigen as a clinical marker in hypohidrosis. ( 30251254 )
2018
23
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. ( 28686597 )
2017
24
The relevance of anhidrosis in Horner syndrome: Analysis of an image. ( 29277520 )
2017
25
Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-LefA"vre Syndrome? ( 29142767 )
2017
26
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies. ( 28177573 )
2017
27
Case of autoimmune autonomic ganglionopathy manifesting anhidrosis. ( 28620980 )
2017
28
Observation of water evaporation and stratum corneum hydration and pH during the clinical course of a patient with acquired idiopathic generalized anhidrosis. ( 28677824 )
2017
29
[Mutation analysis of NTRK1 gene in a family affected with congenital insensitivity to pain with anhidrosis]. ( 28981924 )
2017
30
Anesthetic management during adenotonsillectomy for twins with congenital insensitivity to pain with anhidrosis: two case reports. ( 28838318 )
2017
31
Idiopathic segmental anhidrosis. ( 28541441 )
2017
32
An Innovative Cooling Jacket to Combat Heat Intolerance in Children with Anhidrosis. ( 28429544 )
2017
33
Anesthesia Procedure for Congenital Insensitivity to Pain in a Child with Anhidrosis Syndrome: A Rare Case. ( 29142185 )
2017
34
Degranulation and shrinkage of dark cells in eccrine glands and elevated serum carcinoembryonic antigen in patients with acquired idiopathic generalized anhidrosis. ( 28662305 )
2017
35
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
36
Skin Ultrastructural Findings in Acquired Generalized Hypohidrosis/Anhidrosis in a Patient with Subclinical SjAPgren Syndrome. ( 28448095 )
2017
37
Acquired anhidrosis associated with systemic sarcoidosis: Quantification of nerve fibers around eccrine glands by confocal microscopy. ( 28796884 )
2017
38
Prognosis of acquired idiopathic generalized anhidrosis. ( 28771990 )
2017
39
Recurrent and novel mutations in the NTRK1 gene lead to rare congenital insensitivity to pain with anhidrosis in two Chinese patients. ( 28192073 )
2017
40
Evaluation of the correlation between severity of acquired idiopathic generalized anhidrosis and quality of life scores. ( 28328088 )
2017
41
Unilateral facial and upper truncal anhidrosis and absence of physiological flushing: A case of idiopathic harlequin syndrome. ( 28799533 )
2017
42
Total Hip Arthroplasty in an Inveterate Femoral Neck Fracture in a Patient with Congenital Insensitivity to Pain with Anhidrosis. ( 29270564 )
2017
43
Idiopathic segmental anhidrosis associated with varicella. ( 27206820 )
2016
44
Purple hands in multiple system atrophy: Global anhidrosis with preserved acral sweating. ( 27298449 )
2016
45
A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis (HSAN) Type IV - A Case Report. ( 27042602 )
2016
46
Congenital Insensitivity to Pain and Anhidrosis. ( 26848454 )
2016
47
Raeder's Paratrigeminal Syndrome: Headache and Horner's Lacking Anhidrosis. ( 26902244 )
2016
48
Harlequin syndrome with contralateral anhidrosis after an upper chest gunshot wound. ( 27535737 )
2016
49
Revised guideline for the diagnosis and treatment of acquired idiopathic generalized anhidrosis in Japan. ( 27774633 )
2016
50
Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis. ( 27265460 )
2016
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Variations for Anhidrosis

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Expression for Anhidrosis

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Search GEO for disease gene expression data for Anhidrosis.
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Pathways for Anhidrosis

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Pathways related to Anhidrosis according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 65
Show member pathways
 13.24 IKBKG ITPR2 NGF NGFR NTRK1
2
Phospholipase-C Pathway 65
Show member pathways
 12.77 ITPR2 NGF NGFR NTRK1
3
p70S6K Signaling 65
Show member pathways
 12.74 IKBKG ITPR2 NGF NGFR NTRK1
4
PI3K-Akt signaling pathway 38
Show member pathways
 12.69 IKBKG NGF NGFR NTRK1
5
TNFR1 Pathway 65
Show member pathways
 12.67 IKBKG ITPR2 NGF NGFR
6
Development Angiotensin activation of ERK 23
Show member pathways
 12.59 EDA IKBKG ITPR2 NGF NGFR
7
MAPK signaling pathway 1 38
12.5 IKBKG NGF NGFR NTRK1
8
Ras signaling pathway 38
Show member pathways
 12.47 IKBKG NGF NGFR NTRK1
9
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.4 IKBKG ITPR2 NGF NTRK1
10
Apoptosis Modulation and Signaling 1
Show member pathways
 12.36 IKBKG ITPR2 NGF NGFR NTRK1
11
Neuroscience 4
12.32 NGF NGFR NTRK1
12
Apoptosis Pathway 73
Show member pathways
 12.16 IKBKG NGFR NTRK1
13
TRAF Pathway 65
Show member pathways
 12.09 EDA IKBKG ITPR2 NGF NGFR
14
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12 NGF NGFR NTRK1
15
Immune response IFN gamma signaling pathway 23
Show member pathways
 11.81 ITPR2 NGF NGFR
16
Guidance Cues and Growth Cone Motility 65
11.74 NGF NGFR NTRK1
17
G-protein signaling_RhoA regulation pathway 23
11.46 ITPR2 NGF NTRK1
18
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.44 IKBKG NGF NGFR
19
NGF Pathway 65
Show member pathways
 11.44 IKBKG NGF NGFR NTRK1
20
p75(NTR)-mediated signaling 1
Show member pathways
 11.36 IKBKG NGF NGFR
21
Neurotrophic factor-mediated Trk receptor signaling 1
Show member pathways
 11.28 NGF NGFR NTRK1
22
Microglia Activation During Neuroinflammation: Steady-State Microglia 66
11.24 NGF NTRK1
23
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
11.08 IKBKG NGF NGFR NTRK1
24
14-3-3 and Regulation of BAD Activity 65
11.05 NGF NGFR
25
Activation of TRKA receptors 67
Show member pathways
 10.52 NGF NTRK1
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GO Terms for Anhidrosis

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron death GO:1901215 9.48 IKBKG NTRK1
2 activation of MAPKK activity GO:0000186 9.46 NGF NTRK1
3 phosphatidylinositol-mediated signaling GO:0048015 9.43 NGF NTRK1
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.43 EDA IKBKG NTRK1
5 positive regulation of axonogenesis GO:0050772 9.4 NGF NGFR
6 cellular response to amyloid-beta GO:1904646 9.37 NGFR NTRK1
7 positive regulation of Ras protein signal transduction GO:0046579 9.32 NGF NTRK1
8 regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043281 9.16 NGF NGFR
9 nerve growth factor signaling pathway GO:0038180 8.96 NGF NTRK1
10 neurotrophin TRK receptor signaling pathway GO:0048011 8.8 NGF NGFR NTRK1

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

# Name GO ID Score Top Affiliating Genes
1 nerve growth factor binding GO:0048406 8.96 NGFR NTRK1
2 neurotrophin binding GO:0043121 8.62 NGFR NTRK1
Sources

Sources for Anhidrosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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