MITCH
MCID: MTC212
MIFTS: 26

Mitchell Syndrome (MITCH)

Categories: Ear diseases, Genetic diseases

Aliases & Classifications for Mitchell Syndrome

MalaCards integrated aliases for Mitchell Syndrome:

Name: Mitchell Syndrome 57 72 29 6
Mitch 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
mitchell syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mitchell Syndrome

OMIM® : 57 Mitchell syndrome (MITCH) is a progressive disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss (Chung et al., 2020). (618960) (Updated 05-Apr-2021)

MalaCards based summary : Mitchell Syndrome, also known as mitch, is related to post-traumatic stress disorder and leptospirosis. An important gene associated with Mitchell Syndrome is ACOX1 (Acyl-CoA Oxidase 1). Affiliated tissues include spinal cord, kidney and bone, and related phenotypes are dysphagia and absent speech

UniProtKB/Swiss-Prot : 72 Mitchell syndrome: A disorder characterized by episodic demyelination, sensorimotor polyneuropathy, and sensorineural hearing loss.

Related Diseases for Mitchell Syndrome

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

# Related Disease Score Top Affiliating Genes
1 post-traumatic stress disorder 10.1
2 leptospirosis 10.1
3 alcohol dependence 9.9
4 disease by infectious agent 9.9
5 diarrhea 9.9
6 acute stress disorder 9.9

Graphical network of the top 20 diseases related to Mitchell Syndrome:



Diseases related to Mitchell Syndrome

Symptoms & Phenotypes for Mitchell Syndrome

Human phenotypes related to Mitchell Syndrome:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 HP:0002015
2 absent speech 31 HP:0001344
3 respiratory insufficiency due to muscle weakness 31 HP:0002747
4 encephalopathy 31 HP:0001298
5 clumsiness 31 HP:0002312
6 limb muscle weakness 31 HP:0003690
7 abnormality of the cerebral white matter 31 HP:0002500
8 difficulty walking 31 HP:0002355
9 areflexia of lower limbs 31 HP:0002522
10 sensory axonal neuropathy 31 HP:0003390
11 abnormal autonomic nervous system physiology 31 HP:0012332
12 hyporeflexia of upper limbs 31 HP:0012391
13 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
ataxia
leukoencephalopathy
spinal cord lesions

Respiratory Lung:
respiratory failure

Head And Neck Ears:
hearing loss

Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia
autonomic dysfunction (one patient)

Skin Nails Hair Skin:
rash

Head And Neck Eyes:
xerophthalmia (one patient)

Clinical features from OMIM®:

618960 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitchell Syndrome

Search Clinical Trials , NIH Clinical Center for Mitchell Syndrome

Genetic Tests for Mitchell Syndrome

Genetic tests related to Mitchell Syndrome:

# Genetic test Affiliating Genes
1 Mitchell Syndrome 29 ACOX1

Anatomical Context for Mitchell Syndrome

MalaCards organs/tissues related to Mitchell Syndrome:

40
Spinal Cord, Kidney, Bone, Breast, Endothelial

Publications for Mitchell Syndrome

Articles related to Mitchell Syndrome:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. 57 6
32169171 2020
2
Tourism development from disaster capitalism. 61
33100430 2020
3
Catastrophic failure of the Accolade I hip arthroplasty stem: a retrieval analysis study. 61
32323587 2020
4
Acute trunnion failure of a TMZF alloy stem with large diameter femoral heads. 61
32021050 2020
5
'Breast cancer biomarkers in clinical testing: analysis of a UK NEQAS ICC & ISH database containing results from 199 300 patients': by Andrew Dodson1,2 , Suzanne Parry3 , Merdol Ibrahim3 , John MS Bartlett4 , Sarah Pinder5 , Mitch Dowsett1,2 and Keith Miller3 , J Pathol Clin Res 2018; 4: 262-273, https://doi.org/10.1002/cjp2.112. 61
32633474 2020
6
mitch: multi-contrast pathway enrichment for multi-omics and single-cell profiling data. 61
32600408 2020
7
Dietary satisfaction and quality of life in chronic kidney disease patients on low-protein diets: a multicentre study with long-term outcome data (TOrino-Pisa study). 61
31435654 2020
8
Survival and revision causes of hip resurfacing arthroplasty and the Mitch proximal epiphyseal replacement: results from the Danish Hip Arthroplasty Register. 61
31340710 2019
9
Livelihoods, precarity, and disaster vulnerability: Nicaragua and Hurricane Mitch. 61
31429110 2019
10
Medicinal Plants and Concomitant Use with Pharmaceutical Drugs Among Pregnant Women. 61
30508387 2019
11
Moderate Protein Restriction in Advanced CKD: A Feasible Option in An Elderly, High-Comorbidity Population. A Stepwise Multiple-Choice System Approach. 61
30586894 2018
12
Convection-enhanced delivery for diffuse intrinsic pontine glioma: a single-centre, dose-escalation, phase 1 trial. 61
29914796 2018
13
Assessment and the Journal of Clinical Child and Adolescent Psychology's Evidence Base Updates Series: Evaluating the Tools for Gathering Evidence. 61
29768054 2018
14
Correction: Aptamer-functionalized neural recording electrodes for the direct measurement of cocaine in vivo. 61
32264509 2017
15
Fertility after natural disaster: Hurricane Mitch in Nicaragua. 61
28694556 2017
16
Breaking the cycles of poverty: Strategies, achievements, and lessons learned in Los Cuatro Santos, Nicaragua, 1990-2014. 61
28136698 2017
17
Diet as a system: an observational study investigating a multi-choice system of moderately restricted low-protein diets. 61
27927186 2016
18
The Biologic Response to Polyetheretherketone (PEEK) Wear Particles in Total Joint Replacement: A Systematic Review. 61
27432420 2016
19
Low-Protein Diets in Diabetic Chronic Kidney Disease (CKD) Patients: Are They Feasible and Worth the Effort? 61
27775639 2016
20
"Preliminary data suggest rates of male military sexual trauma may be higher than previously reported": Retraction of Sheppard et al. (2015). 61
26641738 2016
21
Dual-stage growth factor release within 3D protein-engineered hydrogel niches promotes adipogenesis. 61
25309741 2014
22
Avidity-controlled hydrogels for injectable co-delivery of induced pluripotent stem cell-derived endothelial cells and growth factors. 61
24848744 2014
23
Which low-protein diet for which CKD patient? An observational, personalized approach. 61
25102817 2014
24
Avidity-controlled delivery of angiogenic peptides from injectable molecular-recognition hydrogels. 61
24490588 2014
25
'Here, I'm not at ease': anthropological perspectives on community resilience. 61
24601920 2014
26
Bone remodelling around cementless composite acetabular components: the effects of implant geometry and implant-bone interfacial conditions. 61
24508712 2014
27
Sustainability of water, sanitation and hygiene interventions in Central America. 61
26413262 2014
28
Protein-engineered injectable hydrogel to improve retention of transplanted adipose-derived stem cells. 61
23184882 2013
29
Three-year prospective clinical and radiological results of a new flexible horseshoe acetabular cup. 61
23233172 2012
30
Molecular-level engineering of protein physical hydrogels for predictive sol-gel phase behavior. 61
21861461 2011
31
Mitch Besser--helping mothers with HIV become mentors. 61
21459200 2011
32
Climate-related disaster opens a window of opportunity for rural poor in northeastern Honduras. 61
21402909 2011
33
Volatile constituents and biological activities of Pycnostachys abyssinica and Pycnostachys eminii extracts. 61
20738219 2010
34
Learning from recovery after Hurricane Mitch. 61
20132267 2010
35
[Polyetheretherketone (PEEK). Part II: application in clinical practice]. 61
21223826 2010
36
Cuba-guatemala cooperation: building viable models for health. 61
21483307 2009
37
Philip Morris involvement in the development of an air quality laboratory in El Salvador. 61
19211614 2009
38
Central America Field Epidemiology Training Program (CA FETP): a pathway to sustainable public health capacity development. 61
19087253 2008
39
Study of a Leptospirosis Outbreak in Honduras Following Hurricane Mitch and Prophylactic Protection of the vax-SPIRAL® Vaccine. 61
21487367 2008
40
Going where no doctor has gone before: the role of Cuba's Latin American School of Medicine in meeting the needs of some of the world's most vulnerable populations. 61
18466937 2008
41
Mitch Glickstein. 61
18476291 2008
42
Pre-clinical studies to validate the MITCH PCR Cup: a flexible and anatomically shaped acetabular component with novel bearing characteristics. 61
17992473 2008
43
Phenolic and other constituents of fresh water fern Salvinia molesta. 61
18177906 2008
44
Mitch a rapidly evolving component of the Ndc80 kinetochore complex required for correct chromosome segregation in Drosophila. 61
17895365 2007
45
The Central American Network for Disaster and Health Information. 61
17641767 2007
46
Gender and Hurricane Mitch: reconstructing subjectivities after disaster. 61
17461921 2007
47
Health impact of water and sanitation infrastructure reconstruction programmes in eight Central American communities affected by Hurricane Mitch. 61
17402279 2007
48
Tissue-specific regulation of ubiquitin (UbC) transcription by glucocorticoids: in vivo and in vitro analyses. 61
16954342 2007
49
Interview: glycolipid antigen presentation by CD1d and the therapeutic potential of NKT cell activation. 61
18989407 2007
50
Cuba's international cooperation in health: an overview. 61
18072320 2007

Variations for Mitchell Syndrome

ClinVar genetic disease variations for Mitchell Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACOX1 NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) SNV Pathogenic 584427 rs1567876984 GRCh37: 17:73951711-73951711
GRCh38: 17:75955630-75955630

UniProtKB/Swiss-Prot genetic disease variations for Mitchell Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 ACOX1 p.Asn237Ser VAR_083893

Expression for Mitchell Syndrome

Search GEO for disease gene expression data for Mitchell Syndrome.

Pathways for Mitchell Syndrome

GO Terms for Mitchell Syndrome

Sources for Mitchell Syndrome

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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