MCID: MNN028
MIFTS: 37

Mononeuropathy of the Median Nerve, Mild

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Mononeuropathy of the Median Nerve, Mild

MalaCards integrated aliases for Mononeuropathy of the Median Nerve, Mild:

Name: Mononeuropathy of the Median Nerve, Mild 57 29 13 6 40 73
Carpal Tunnel Syndrome 57 75 73
Mnmn 57 75
Carpal Tunnel Syndrome, Susceptibility to 57
Mononeuropathy of the Median Nerve Mild 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
allelic disorder to autosomal recessive charcot-marie-tooth disease type 4c


HPO:

32
mononeuropathy of the median nerve, mild:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613353
MedGen 42 C3150596
MeSH 44 D002349
UMLS 73 C3150596

Summaries for Mononeuropathy of the Median Nerve, Mild

UniProtKB/Swiss-Prot : 75 Mononeuropathy of the median nerve mild: A disease characterized by median nerve mononeuropathy at the wrist. The clinical presentation ranges from a mild phenotype, consistent with carpal tunnel syndrome, to a severe median nerve mononeuropathy at the wrist associated with evidence of a more widespread axonal polyneuropathy. The latter phenotype is similar to that of patients with hereditary neuropathy with liability to pressure palsies.

MalaCards based summary : Mononeuropathy of the Median Nerve, Mild, also known as carpal tunnel syndrome, is related to carpal tunnel syndrome and peripheral nervous system disease, and has symptoms including back pain, headache and muscle cramp. An important gene associated with Mononeuropathy of the Median Nerve, Mild is SH3TC2 (SH3 Domain And Tetratricopeptide Repeats 2). Affiliated tissues include testes, skin and bone, and related phenotypes are polyneuropathy and peripheral axonal neuropathy

Description from OMIM: 613353

Related Diseases for Mononeuropathy of the Median Nerve, Mild

Diseases related to Mononeuropathy of the Median Nerve, Mild via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 carpal tunnel syndrome 13.0
2 peripheral nervous system disease 11.4
3 overuse syndrome 11.4
4 acromegaly 11.4
5 paresthesia 11.4
6 repetitive motion disorders 11.4
7 macrodactyly of the hand 11.4
8 repetitive stress injuries 11.4
9 amyloidosis, hereditary, transthyretin-related 11.2
10 pinched nerve 11.0
11 neuropathy 10.5
12 polyneuropathy 10.5
13 amyloidosis 10.4
14 ulnar neuropathy 10.3
15 diabetic polyneuropathy 10.3
16 tenosynovitis 10.3
17 aging 10.3
18 cervicitis 10.3
19 thoracic outlet syndrome 10.2
20 arthritis 10.2
21 mononeuropathy 10.2
22 fibromyalgia 10.2
23 perineurioma 10.1
24 median neuropathy 10.1
25 fasciitis 10.1
26 autonomic dysfunction 10.1
27 macroglossia 10.1
28 neuropathy, hereditary, with liability to pressure palsies 10.1
29 eosinophilic fasciitis 10.1
30 paine syndrome 10.1
31 gout 10.1
32 epicondylitis 10.1
33 synovitis 10.1
34 radiculopathy 10.1
35 intraneural perineurioma 10.1
36 hereditary neuropathy with liability to pressure palsy 10.1
37 mycobacterium kansasii 10.1
38 hereditary neuropathies 10.1
39 breast cancer 10.0
40 mucopolysaccharidosis, type ii 10.0
41 body mass index quantitative trait locus 1 10.0
42 tendinitis 10.0
43 chronic inflammatory demyelinating polyneuropathy 10.0
44 diabetic neuropathy 10.0
45 hemangioma 10.0
46 lymphedema 10.0
47 osteoarthritis 10.0
48 sarcoma 10.0
49 neuroma 10.0
50 chondroma 10.0

Comorbidity relations with Mononeuropathy of the Median Nerve, Mild via Phenotypic Disease Network (PDN):


Chronic Myocardial Ischemia Deficiency Anemia
Diabetic Polyneuropathy Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease Rheumatoid Arthritis
Transient Cerebral Ischemia Ulnar Nerve Lesion

Graphical network of the top 20 diseases related to Mononeuropathy of the Median Nerve, Mild:



Diseases related to Mononeuropathy of the Median Nerve, Mild

Symptoms & Phenotypes for Mononeuropathy of the Median Nerve, Mild

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
carpal tunnel syndrome
mononeuropathy of the median nerve
more widespread axonal polyneuropathy may occur
patchy axonal neuropathy


Clinical features from OMIM:

613353

Human phenotypes related to Mononeuropathy of the Median Nerve, Mild:

32
# Description HPO Frequency HPO Source Accession
1 polyneuropathy 32 HP:0001271
2 peripheral axonal neuropathy 32 HP:0003477
3 mononeuropathy 32 HP:0009831
4 constrictive median neuropathy 32 HP:0012185

UMLS symptoms related to Mononeuropathy of the Median Nerve, Mild:


back pain, headache, muscle cramp, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

Drugs & Therapeutics for Mononeuropathy of the Median Nerve, Mild

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Age on the Median Effective Concentration(EC50) for Motor Block With Spinal Plain Bupivacaine Withdrawn NCT02141841

Search NIH Clinical Center for Mononeuropathy of the Median Nerve, Mild

Genetic Tests for Mononeuropathy of the Median Nerve, Mild

Genetic tests related to Mononeuropathy of the Median Nerve, Mild:

# Genetic test Affiliating Genes
1 Mononeuropathy of the Median Nerve, Mild 29 SH3TC2

Anatomical Context for Mononeuropathy of the Median Nerve, Mild

MalaCards organs/tissues related to Mononeuropathy of the Median Nerve, Mild:

41
Testes, Skin, Bone, Endothelial, Kidney, Brain, Cortex

Publications for Mononeuropathy of the Median Nerve, Mild

Articles related to Mononeuropathy of the Median Nerve, Mild:

(show top 50) (show all 1053)
# Title Authors Year
1
AAOS Appropriate Use Criteria: Management of Carpal Tunnel Syndrome. ( 29432365 )
2018
2
Carpal tunnel syndrome prevalence: an evaluation of workers at a raw poultry processing plant. ( 29873286 )
2018
3
Occurrence of bifid median nerve in healthy and carpal tunnel syndrome patients. ( 29413456 )
2018
4
HOW DO BOARD-CERTIFIED HAND SURGEONS MANAGE CARPAL TUNNEL SYNDROME? A NATIONAL SURVEY. ( 29977145 )
2018
5
A prognostic model for the patient reported outcome of surgical treatment of carpal tunnel syndrome. ( 29981160 )
2018
6
Diagnosis and Treatment of Carpal Tunnel Syndrome in Low-prevalence Circumstances. ( 29952784 )
2018
7
Topiramate-induced Neuropathy Mimicking Carpal Tunnel Syndrome: A Case Report. ( 29430500 )
2018
8
What types of treatment are provided for patients with Carpal Tunnel Syndrome? A retrospective analysis of commercial insurance. ( 29452295 )
2018
9
Management of Carpal Tunnel Syndrome. ( 29420323 )
2018
10
Ultrasonography for the Diagnosis of Carpal Tunnel Syndrome in Diabetic Patients: Missing the Mark? ( 29966141 )
2018
11
Are Carpal Tunnel Syndrome and Regional Degenerative Osteoarthritis Linked? Results of a Case-Control Study. ( 29409410 )
2018
12
Effect of Alpha-Lipoic Acid on Clinical and Neurophysiologic Recovery of Carpal Tunnel Syndrome: A Double-Blind, Randomized Clinical Trial. ( 29356576 )
2018
13
Intrasynovial spindle cell lipoma of the deep flexor of the middle finger causing intermittent carpal tunnel syndrome-case report and review of the literature. ( 29429014 )
2018
14
Median nerve ultrasound in carpal tunnel syndrome with normal electrodiagnostic tests. ( 29949031 )
2018
15
Comparison of splinting and Kinesio taping in the treatment of carpal tunnel syndrome: a prospective randomized study. ( 29948355 )
2018
16
Bilateral carpal tunnel syndrome - A review. ( 28992938 )
2018
17
Carpal tunnel syndrome after an electrical injury: a case report and review of literature. ( 29899196 )
2018
18
Ultrasound carpal tunnel syndrome: additional criteria for diagnosis. ( 28859853 )
2018
19
Effect of Polydeoxyribonucleotide Injection in a Patient with Carpal Tunnel Syndrome: A Case Report. ( 29373371 )
2018
20
Carpal Tunnel Syndrome: Evaluation of the Effects of Low-Level Laser Therapy With Ultrasound Strain Imaging. ( 29892976 )
2018
21
A Prospective Comparison of Diagnostic Tools for the Diagnosis of Carpal Tunnel Syndrome. ( 29935774 )
2018
22
Sonographic assessment of carpal tunnel syndrome in diabetic patients with and without polyneuropathy. ( 29901629 )
2018
23
Comparison of single-dose radial extracorporeal shock wave and local corticosteroid injection for treatment of carpal tunnel syndrome including mid-term efficacy: a prospective randomized controlled trial. ( 29370788 )
2018
24
Safety and efficacy of platelet-rich plasma in treatment of carpal tunnel syndrome; a randomized controlled trial. ( 29433485 )
2018
25
Translation and Validation of the Persian Version the Boston Carpal Tunnel Syndrome Questionnaire. ( 29430499 )
2018
26
Diffusion tensor imaging findings of the median nerve before and after carpal tunnel corticosteroid injection in patients with carpal tunnel syndrome: a preliminary study. ( 29979105 )
2018
27
Author Correction to: L-Acetyl-carnitine in Patients with Carpal Tunnel Syndrome: Effects on Nerve Protection, Hand Function and Pain. ( 29441455 )
2018
28
Trends in the prevalence, incidence and surgical management of carpal tunnel syndrome between 1993 and 2013: an observational analysis of UK primary care records. ( 29921681 )
2018
29
Thumb Opposition Recovery Following Surgery for Severe Carpal Tunnel Syndrome: A Clinical, Radiological, and Electrophysiological Pilot Study. ( 29934085 )
2018
30
Short-term clinical outcome of orthosis alone vs combination of orthosis, nerve, and tendon gliding exercises and ultrasound therapy for treatment of carpal tunnel syndrome. ( 29426574 )
2018
31
The effectiveness of splinting and surgery on sleep disturbance in carpal tunnel syndrome. ( 28872412 )
2018
32
Diagnosis of carpal tunnel syndrome. ( 29894306 )
2018
33
A Median Nerve Anterior Transposition Procedure for Multi-Recurrent Hemodialysis-Related Carpal Tunnel Syndrome. ( 29409425 )
2018
34
Effectiveness of ultrasound-guided vs direct approach corticosteroid injections for carpal tunnel syndrome: A double-blind randomized controlled trial. ( 29355292 )
2018
35
Mental and Physical Health Disparities in Patients With Carpal Tunnel Syndrome Living With High Levels of Social Deprivation. ( 29945843 )
2018
36
Different doses of steroid injection in elderly patients with carpal tunnel syndrome: a triple-blind, randomized, controlled trial. ( 29403268 )
2018
37
Efficacy of dietary supplement with nutraceutical composed combined with extremely-low-frequency electromagnetic fields in carpal tunnel syndrome. ( 29950763 )
2018
38
Predicting Clinical Outcome After Surgical Treatment inA Patients With Carpal Tunnel Syndrome. ( 29945840 )
2018
39
The role of electrophysiological examination in the diagnosis of carpal tunnel syndrome: Analysis of 2516 patients. ( 29888720 )
2018
40
Blocking fibrotic signaling in fibroblasts from patients with carpal tunnel syndrome. ( 28294324 )
2018
41
Evidence-Based Medicine: Current Evidence in the Diagnosis and Management of Carpal Tunnel Syndrome. ( 28654613 )
2017
42
Effectiveness of Lavendula stoechas essential oil in treatment of mild to moderate carpal tunnel syndrome: A randomized controlled trial. ( 28803691 )
2017
43
A repeated carpal tunnel syndrome due to tophaceous gout in flexor tendon: A case report. ( 28248892 )
2017
44
The Incidence of Complex Regional Pain Syndrome in Simultaneous Surgical Treatment of Carpal Tunnel Syndrome and Dupuytren Contracture. ( 28691512 )
2017
45
The comparison between effectiveness of ultrasound guided corticosteroid injection above versus below the median nerve in mild to moderate carpal tunnel syndrome: A randomized controlled trial. ( 29232214 )
2017
46
Teaching NeuroImages: Sonographic detection of intraneural perineurioma in therapy-refractory carpal tunnel syndrome. ( 28265045 )
2017
47
Plexiform neurofibroma as a cause of carpal tunnel syndrome in a radial deficiency patient. ( 28554231 )
2017
48
Treatment of mild to moderate carpal tunnel syndrome in patients with diabetic neuropathy using low level laser therapy versus ultrasound controlled comparative study. ( 28856107 )
2017
49
Bifid median nerve and carpal tunnel syndrome: an uncommon anatomical variation. ( 28447963 )
2017
50
Carpal Tunnel Syndrome and Trigger Wrist Caused by Localized Amyloidosis: A Case Report. ( 29117820 )
2017

Variations for Mononeuropathy of the Median Nerve, Mild

UniProtKB/Swiss-Prot genetic disease variations for Mononeuropathy of the Median Nerve, Mild:

75
# Symbol AA change Variation ID SNP ID
1 SH3TC2 p.Tyr169His VAR_064421 rs80359890

ClinVar genetic disease variations for Mononeuropathy of the Median Nerve, Mild:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh37 Chromosome 5, 148406435: 148406435
2 SH3TC2 NM_024577.3(SH3TC2): c.2860C> T (p.Arg954Ter) single nucleotide variant Pathogenic rs80338933 GRCh38 Chromosome 5, 149026872: 149026872

Expression for Mononeuropathy of the Median Nerve, Mild

Search GEO for disease gene expression data for Mononeuropathy of the Median Nerve, Mild.

Pathways for Mononeuropathy of the Median Nerve, Mild

GO Terms for Mononeuropathy of the Median Nerve, Mild

Sources for Mononeuropathy of the Median Nerve, Mild

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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