PNMHH
MCID: PRP075
MIFTS: 39

Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (PNMHH)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

MalaCards integrated aliases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

Name: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 57 72 29 13 6 70
Pnmhh 57 72
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome 58
Neuropathy, Peripheral, Myopathy, Hoarseness, and Hearing Loss 39
Peripheral Neuropathy-Myopathy-Hoarseness-Deafness Syndrome 58
Peripheral Nervous System Diseases 44

Characteristics:

Orphanet epidemiological data:

58
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

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

Miscellaneous:
progressive disorder
mean age at onset 10.6 years
hearing loss and hoarseness occur later
one korean family has been reported (as of november 2011)


HPO:

31
peripheral neuropathy, myopathy, hoarseness, and hearing loss:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

UniProtKB/Swiss-Prot : 72 Peripheral neuropathy, myopathy, hoarseness, and hearing loss: A complex phenotype of progressive peripheral neuropathy and distal myopathy, with later onset of hoarseness and hearing loss. Affected individuals develop distal muscle weakness at a mean age of 10.6 years, followed by progressive atrophy of these muscles. The lower limbs are more severely affected than the upper limbs, and the muscle weakness first affects anterior leg muscles and later posterior leg muscles.

MalaCards based summary : Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss, also known as pnmhh, is related to deafness, autosomal dominant 4a and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss is MYH14 (Myosin Heavy Chain 14). The drugs Nabilone and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and bone, and related phenotypes are decreased nerve conduction velocity and emg: myopathic abnormalities

More information from OMIM: 614369

Related Diseases for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 4a 10.3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
3 miyoshi muscular dystrophy 10.3
4 myopathy 10.3
5 peripheral nervous system disease 10.3
6 neuropathy 10.3
7 amyotrophic lateral sclerosis 1 10.1
8 spinal muscular atrophy 10.1
9 guillain-barre syndrome 10.1
10 lateral sclerosis 10.1
11 muscular atrophy 10.1
12 kearns-sayre syndrome 10.0
13 scoliosis 10.0
14 optic neuritis 10.0
15 neuritis 10.0
16 motor neuron disease 10.0
17 nervous system disease 10.0
18 diabetic neuropathy 10.0
19 paresthesia 10.0

Graphical network of the top 20 diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:



Diseases related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Symptoms & Phenotypes for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Human phenotypes related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
2 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
3 hoarse voice 58 31 very rare (1%) Frequent (79-30%) HP:0001609
4 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
5 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
6 mildly elevated creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0008180
7 increased variability in muscle fiber diameter 58 31 frequent (33%) Frequent (79-30%) HP:0003557
8 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
9 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
10 fatty replacement of skeletal muscle 58 31 frequent (33%) Frequent (79-30%) HP:0012548
11 structural foot deformity 58 31 frequent (33%) Frequent (79-30%) HP:0010219
12 progressive distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009063
13 mitochondrial swelling 58 31 frequent (33%) Frequent (79-30%) HP:0030774
14 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 areflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001284
16 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
17 arthritis 58 31 very rare (1%) Very rare (<4-1%) HP:0001369
18 seizure 31 very rare (1%) HP:0001250
19 seizures 58 Very rare (<4-1%)
20 dysphagia 58 Excluded (0%)
21 myopathy 58 Frequent (79-30%)
22 vocal cord paralysis 58 Excluded (0%)
23 distal muscle weakness 31 HP:0002460
24 distal amyotrophy 31 HP:0003693
25 abnormal foot morphology 31 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
nerve conduction studies show mildly reduced or normal sensory values
peroneal nerves show severely reduced cmaps

Laboratory Abnormalities:
mildly increased serum creatine kinase

Head And Neck Ears:
deafness, sensorineural (45%)

Voice:
hoarseness (53%)

Skeletal Feet:
foot deformities

Muscle Soft Tissue:
degenerating fibers
endomysial fibrosis
distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)
distal muscle atrophy (lower limbs more affected than upper limbs)
proximal weakness of the lower limbs with longer disease duration
more
Neurologic Central Nervous System:
tremor (3 patients)

Clinical features from OMIM®:

614369 (Updated 05-Apr-2021)

Drugs & Therapeutics for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Drugs for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 329)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nabilone Approved, Investigational Phase 4 51022-71-0 5284592
2
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
5
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
8
Acetaminophen Approved Phase 4 103-90-2 1983
9
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
10
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Naloxone Approved, Vet_approved Phase 4 465-65-6 5284596
13
Ziconotide Approved Phase 4 107452-89-1 447451
14
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
15
Norepinephrine Approved Phase 4 51-41-2 439260
16
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
17
Tapentadol Approved Phase 4 175591-23-8 9838022
18
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
19
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
20
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
21
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
23
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
24
Pyridoxal Phosphate Approved, Investigational, Nutraceutical Phase 4 54-47-7 1051
25
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
27
Choline Approved, Nutraceutical Phase 4 62-49-7 305
28
Cobalamin Experimental Phase 4 13408-78-1 6857388
29 Anesthetics Phase 4
30 Nutrients Phase 4
31 Trace Elements Phase 4
32 Vitamins Phase 4
33 Micronutrients Phase 4
34 Antioxidants Phase 4
35 Protective Agents Phase 4
36 Vitamin B9 Phase 4
37 Folate Phase 4
38 Vitamin B Complex Phase 4
39 Vitamin B12 Phase 4
40 Vitamin B 12 Phase 4
41 Narcotics Phase 4
42 Analgesics, Opioid Phase 4
43 Vitamin B 6 Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Anesthetics, Local Phase 4
46 Calciferol Phase 4
47 Excitatory Amino Acid Antagonists Phase 4
48 Neuroprotective Agents Phase 4
49 Alpha-lipoic Acid Phase 4
50 Thioctic Acid Phase 4

Interventional clinical trials:

(show top 50) (show all 690)
# Name Status NCT ID Phase Drugs
1 Treatment With Gamunex 10% Intravenous Immunoglobulin (IVIg) for Patients With Demyelination and Diabetes Mellitus: A Blinded, Placebo-Controlled Crossover Pilot Study Unknown status NCT02372149 Phase 4 10% intravenous immunoglobulin (IVIg);0.9% sodium chloride
2 Bi-Axial Rotating Magnetic Field Therapy in Refractory Neuropathic Foot Pain Secondary to Diabetic Peripheral Neuropathy. Multi-Center, Randomized Placebo Controlled Trial Unknown status NCT00123136 Phase 4
3 The Impact of Perioperative Gabapentin on Chronic Groin Pain After Inguinal Hernia Repair Unknown status NCT02419443 Phase 4 Gabapentin;Placebo
4 A Multicenter Trial Evaluating the Safety and Efficacy of Cesamet™ for the Symptomatic Treatment of Chemotherapy-Induced Neuropathic Pain in Patients With Cancer Completed NCT00380965 Phase 4 Cesamet™ (nabilone)
5 A Multicenter Trial Evaluating the Efficacy of Cesamet™ for the Symptomatic Treatment of Pain in Patients With Diabetic Peripheral Neuropathy Completed NCT00380913 Phase 4 Cesamet™ (nabilone)
6 An Open-label, Randomized, Multi-center Clinical Trial to Evaluate the Safety and Efficacy in Peripheral Neuropathies Patients Treated With Mecobalamin Injection Completed NCT01192113 Phase 4 Mecobalamin IV Injection;Mecobalamin IM injection;Mecobalamin IV or IM injection
7 Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) : Pattern Electroretinography Study Completed NCT03046693 Phase 4 Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
8 A 14-Week, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study To Evaluate The Safety And Efficacy Of Pregabalin (150mg-600mg/Day) Using A Flexible Optimal Dose Schedule In Patients With Painful Diabetic Peripheral Neuropathy (DPN). Completed NCT00156078 Phase 4 pregabalin
9 Efficacy of Administration of Angiotensin Converting Enzyme Inhibition on Autonomic and Peripheral Neuropathy in Patients With Diabetes Mellitus Completed NCT03031834 Phase 4 Quinapril
10 An Open Label Extension Safety Trial of Pregabalin (CI-1008) in Subjects With Diabetic Peripheral Neuropathy Completed NCT00159731 Phase 4 Pregabalin
11 A 13 Week, Double-Blind, Placebo-Controlled Phase 4 Trial of Pregabalin (CI-1008, 600 mg/Day) for Relief of Pain in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT00159679 Phase 4 Pregabalin
12 A Randomized, Double-Blind, Placebo-Controlled, Single Center Study Designed to Assess the Effects of Pregabalin on Change in Patients With Diabetic Neuropathy Completed NCT00573261 Phase 4 Pregabalin;Placebo
13 A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions Completed NCT03712475 Phase 4 Pregabalin
14 Efficacy and Safety of Pregabalin in an Open-label, Non-comparative, Flexible-dose Trial With Diabetic Peripheral Neuropathy or Postherpetic Neuralgia Completed NCT00629681 Phase 4 Pregabalin
15 A Phase IV Clinical Trial. Effect of Pulsing Electromagnetic Fields on Lower Extremity Diabetic Neuropathy: A Pilot, Open-Label Study Completed NCT00614341 Phase 4
16 High-dose Vitamin D Supplementation Reduces Inflammation and Improves Microcirculation in Patients With Diabetic Peripheral Neuropathy Completed NCT04377399 Phase 4 Vitamin D
17 A Multicenter, Phase IV, Interventional Study to Assess the Efficacy and Safety of Oxycodone/Naloxone in Korean Patients With Chemotherapy-Induced Peripheral Neuropathy Who Need Opioid Combination Treatment With Existing Pregabalin Treatment Completed NCT01675531 Phase 4 Targin
18 Long Term, Double Blind, Randomized, Placebo Controlled Multi-center Study of FRE.M.S.- Frequency Modulated Neural Stimulation Lorenz Therapy™ in Symptomatic Diabetic Neuropathy Completed NCT01628627 Phase 4
19 Evaluation of a Structured Algorithm for Intrathecal Bolus Doses of Ziconotide (Prialt®)- The Swedish Ziconotide Bolus Study Completed NCT01373983 Phase 4 Ziconotide
20 Neuroprotective Effect of Vitamin B12 and Vitamin B6 Against Vincristine Induced Peripheral Neuropathy: A Randomized, Double Blind, Placebo Controlled, Multi Center Trial Completed NCT02923388 Phase 4 Injection Mecobalamin,;Tablet Pyridoxine hydrochloride;Intravenous normal saline 1 ml;Placebo pill
21 Comparison of the Analgesic Effect of the Local Anesthetics Ropicacaine, Levobupivacaine, and Levobupivacaine + Epinephrin Via Interscalene Nerve Block in Patients Undergoing Shoulder Arthroscopy Under General Anesthesia Completed NCT02691442 Phase 4 Ropivacaine 0.75%;Levobupivacaine 0.5%;Levobupivacaine 0.5% + epinephrin 1/200000
22 A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions Completed NCT00904202 Phase 4 Placebo Capsules + Placebo Patch;Placebo capsules + Lidoderm®;Gabapentin + Placebo;Gabapentin + Lidoderm®;Gabapentin 300 mg capsules 1800 mg/day + placebo patch;Gabapentin 1800 mg/day + Lidoderm patch
23 A 24 Week, Double-blind, Placebo-controlled, Multisite Study of Metanx® in Subjects With Type 2 Diabetic Peripheral Neuropathy (DPN) Completed NCT00726713 Phase 4
24 Comparison of the Effectiveness and Safety Between Tramadol 37.5 Mg/Acetaminophen 325mg And Gabapentin for The Treatment of Painful Diabetic Neuropathy: Multicenter, Randomized, Open Comparative Study Completed NCT00634543 Phase 4 Tramadol hydrochloride/ Acetaminophen;Gabapentin
25 The Effect of α-lipoic Acid Treatment in Patient With Cardiac Autonomic Neuropathy by Comparing the Change of HRV Index & ANS Function:A 6month Multicenter, Randomized, Open Label Clinical Trial CANON Study Completed NCT02056366 Phase 4 α-lipoic acid
26 Efficacy of Pregabalin and Duloxetine in Patients With Painful Diabetic Peripheral Neuropathy (PDPN): the Effect of Pain on Cognitive Function, Sleep and Quality of Life (BLOSSOM) Recruiting NCT04246619 Phase 4 Pregabalin;Duloxetine
27 A Randomized, Double-Blind, Placebo-Controlled Trial Of The Prevention And Treatment Of Chemotherapy-Induced Peripheral Neuropathy Symptoms In Subjects With Advanced Colorectal Cancer Terminated NCT00380874 Phase 4 Pregabalin;Placebo
28 Phase 4 Study of Tapentadol vs Oxycodone in Neuropathic Pain Terminated NCT01458015 Phase 4 tapentadol, oxycodone
29 Precision Spinal Cord Stimulation for Painful Diabetic Neuropathy Terminated NCT00487981 Phase 4
30 Prospective Case Crossover Study to Assess Whether PDE5 Inhibitor Exposure in Men Increases the Risk for the Development of Non-arteritic Anterior Ischemic Optic Neuropathy (NAION) Terminated NCT00867815 Phase 4 Diagnostic procedures
31 A Double-blind, Placebo-controlled, Cross-over Study of Ranolazine in Patients With Coronary Artery Disease for the Treatment of Painful Polyneuropathy Terminated NCT00832572 Phase 4 Ranolazine;Placebo
32 Pilot Study of L-Carnitine Supplementation in the Prevention of Chemotherapy-induced Peripheral Neuropathy in Women With Metastatic Breast Cancer Terminated NCT00754767 Phase 4 L-carnitine L-tartrate
33 A Randomized, Sham-Controlled Clinical Study to Evaluate The Effect of the Magnetic Molecular Energizer (MME) on Diabetic Peripheral Neuropathy Unknown status NCT00134524 Phase 3
34 A Randomized Controlled Trial of Mammalian Omega 3 With Vitamin D3 in Patients at Risk of Chemotherapy Induced Peripheral Neuropathy. Unknown status NCT02294149 Phase 3 mammalian Omega 3 Fatty acids;placebo
35 Study of Topical Preparation of Capsaicin Nanoparticle in Patient With Painful Diabetic Neuropathy Unknown status NCT01125215 Phase 2, Phase 3 0.75% capsaicin nanoparticle cream;Placebo
36 Randomized, Assessor- and Participant-blinded, Controlled, and Parallel-design Approach to Investigate Whether Acupuncture Can Prevent or Postpone the Occurrence of Peripheral Neuropathy and Improve Quality of Life. Unknown status NCT02744274 Phase 3
37 Phase 3 Study to Evaluate Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients. Unknown status NCT00872352 Phase 3
38 Huo JieGe, Doctor of Medicine,Professor of Medicine,Professor of Medical Science. Unknown status NCT02590367 Phase 2, Phase 3 FOLFOX regimen;HD6610 Granule;HD6610 Granule placebo
39 The Evaluation of Safety and Efficacy of JWHGWT on Diabetic Neuropathy Unknown status NCT00886665 Phase 3 placebo;JWHGWT
40 The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy in Colorectal Cancer Patients. Randomized Trial Unknown status NCT02024191 Phase 3
41 Dietetic and Hygiene Measures in Metabolic Neuropathies: the Neurodiet Study Completed NCT01465620 Phase 3
42 A Multicenter Randomized, Double-Blind, Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00300222 Phase 3 NGX-4010
43 A Randomized, Double-Blind, Controlled Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00115310 Phase 3 NGX-4010
44 The Use of Vitamin E for Prevention of Chemotherapy Induced Peripheral Neuropathy: A Phase III Double-Blind Placebo Controlled Study Completed NCT00363129 Phase 3
45 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multi-Center Trial of Pregabalin Versus Placebo in the Treatment of Neuropathic Pain Associated With Diabetic Peripheral Neuropathy Completed NCT00143156 Phase 3 pregabalin
46 A Randomized, Double-Blind, Controlled Dose Finding Study of NGX-4010 for the Treatment of Postherpetic Neuralgia Completed NCT00061776 Phase 2, Phase 3 Capsaicin Dermal Patch
47 A Randomized, Controlled, Long-term Safety Study Evaluating the Effect of Repeated Applications of QUTENZATM Plus Standard of Care Versus Standard of Care Alone in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT01478607 Phase 3 QUTENZA
48 Use of Topical Lidocaine (Lidoderm 5% Patch) to Reduce Pain in Patients With Diabetic Neuropathy: Does the Density and Subtype of Sodium Channels Affect Response? Completed NCT01086150 Phase 2, Phase 3 Lidocaine 5% patches
49 A Randomized-Withdrawal, Placebo-Controlled, Study Evaluating the Efficacy, Safety, and Tolerability of Tapentadol Extended-Release (ER) in Subjects With Chronic, Painful Diabetic Peripheral Neuropathy (DPN) Completed NCT01041859 Phase 3 Tapentadol extended release (ER);Placebo
50 A Randomized-Withdrawal Phase 3 Study Evaluating the Safety and Efficacy of CG5503 Extended Release (ER) in Subjects With Painful Diabetic Peripheral Neuropathy Completed NCT00455520 Phase 3 CG5503;placebo

Search NIH Clinical Center for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Cochrane evidence based reviews: peripheral nervous system diseases

Genetic Tests for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Genetic tests related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Genetic test Affiliating Genes
1 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 29 MYH14

Anatomical Context for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

MalaCards organs/tissues related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

40
Spinal Cord, Bone Marrow, Bone, Skin, Skeletal Muscle, Liver, Placenta

Publications for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Articles related to Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

# Title Authors PMID Year
1
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. 57 6 61
21480433 2011
2
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015

Variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

ClinVar genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYH14 NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) SNV Pathogenic 30739 rs113993956 GRCh37: 19:50771512-50771512
GRCh38: 19:50268255-50268255
2 MYH14 NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) SNV Uncertain significance 587536 rs1568504395 GRCh37: 19:50758510-50758510
GRCh38: 19:50255253-50255253
3 MYH14 NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp) SNV Uncertain significance 816783 rs769989306 GRCh37: 19:50789892-50789892
GRCh38: 19:50286635-50286635
4 MYH14 NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys) SNV Uncertain significance 816784 rs749591626 GRCh37: 19:50812922-50812922
GRCh38: 19:50309665-50309665
5 MYH14 NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp) SNV Uncertain significance 329934 rs201515738 GRCh37: 19:50781364-50781364
GRCh38: 19:50278107-50278107
6 MYH14 NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) SNV Uncertain significance 329946 rs556548077 GRCh37: 19:50794219-50794219
GRCh38: 19:50290962-50290962
7 MYH14 NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) SNV Uncertain significance 634625 rs887619644 GRCh37: 19:50752376-50752376
GRCh38: 19:50249119-50249119
8 MYH14 NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro) SNV Uncertain significance 930261 GRCh37: 19:50813033-50813033
GRCh38: 19:50309776-50309776
9 MYH14 NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp) SNV Uncertain significance 930364 GRCh37: 19:50762515-50762515
GRCh38: 19:50259258-50259258
10 MYH14 NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp) SNV Uncertain significance 930417 GRCh37: 19:50796514-50796514
GRCh38: 19:50293257-50293257
11 MYH14 NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser) SNV Uncertain significance 930985 GRCh37: 19:50713713-50713713
GRCh38: 19:50210456-50210456
12 MYH14 NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) SNV Uncertain significance 893634 GRCh37: 19:50766582-50766582
GRCh38: 19:50263325-50263325
13 MYH14 NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys) SNV Uncertain significance 931005 GRCh37: 19:50789781-50789781
GRCh38: 19:50286524-50286524
14 MYH14 NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) SNV Uncertain significance 931550 GRCh37: 19:50813037-50813037
GRCh38: 19:50309780-50309780
15 MYH14 NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs) Deletion Uncertain significance 932016 GRCh37: 19:50813043-50813046
GRCh38: 19:50309786-50309789
16 MYH14 NM_001145809.2(MYH14):c.1049G>A (p.Arg350Gln) SNV Uncertain significance 1033647 GRCh37: 19:50735262-50735262
GRCh38: 19:50232005-50232005
17 MYH14 NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) SNV Uncertain significance 287599 rs201337011 GRCh37: 19:50764739-50764739
GRCh38: 19:50261482-50261482
18 MYH14 NM_001145809.2(MYH14):c.2900C>T (p.Thr967Met) SNV Uncertain significance 893919 GRCh37: 19:50771491-50771491
GRCh38: 19:50268234-50268234
19 MYH14 NM_001145809.2(MYH14):c.4761G>A (p.Glu1587=) SNV Uncertain significance 1034064 GRCh37: 19:50792701-50792701
GRCh38: 19:50289444-50289444
20 MYH14 NM_001145809.2(MYH14):c.5469+13del Deletion Uncertain significance 1034066 GRCh37: 19:50796957-50796957
GRCh38: 19:50293700-50293700
21 MYH14 NM_001145809.2(MYH14):c.2525T>C (p.Leu842Pro) SNV not provided 972933 GRCh37: 19:50764832-50764832
GRCh38: 19:50261575-50261575

UniProtKB/Swiss-Prot genetic disease variations for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss:

72
# Symbol AA change Variation ID SNP ID
1 MYH14 p.Arg933Leu VAR_066338 rs113993956

Expression for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Search GEO for disease gene expression data for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss.

Pathways for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

GO Terms for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

Sources for Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss

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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