ACPHD
MCID: ATX031
MIFTS: 58

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (ACPHD)

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

Aliases & Classifications for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

MalaCards integrated aliases for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

Name: Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 57 72 36 29 6 39 70
Hearing Loss 44 39 17
Acphd 57 72
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome 58
Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome 58
Combined Cerebellar and Peripheral Ataxia-Deafness-Diabetes Mellitus Syndrome 58
Heredodegenerative Disorders, Nervous System 44

Characteristics:

Orphanet epidemiological data:

58
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of diabetes in teenage years
onset of neurologic features is variable, even within the same family (range early childhood to adult)
one likely consanguineous turkish family has been reported (last curated january 2015)


HPO:

31
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

KEGG : 36 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

MalaCards based summary : Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus, also known as hearing loss, is related to deafness, autosomal dominant 1, with or without thrombocytopenia and deafness, x-linked 2, and has symptoms including gait ataxia An important gene associated with Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus is DNAJC3 (DnaJ Heat Shock Protein Family (Hsp40) Member C3), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs Silver sulfadiazine and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and cortex, and related phenotypes are diabetes mellitus and short stature

UniProtKB/Swiss-Prot : 72 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus: A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

More information from OMIM: 616192

Related Diseases for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2334)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1, with or without thrombocytopenia 32.4 MYO7A GJB2
2 deafness, x-linked 2 32.3 PRPS1 GJB2
3 drug-induced hearing loss 32.1 MYO7A GJB2
4 branchiootic syndrome 1 32.1 MYO7A GJB2
5 deafness, autosomal recessive 9 32.1 MYO7A GJB2
6 meniere disease 32.1 MYO7A GJB2
7 deafness, autosomal dominant 6 32.1 MYO7A GJB2
8 hereditary hearing loss and deafness 32.0 PRPS1 GJB2
9 pendred syndrome 31.9 MYO7A GJB2 CLDN9
10 deafness, autosomal dominant 9 31.9 MYO7A GJB2
11 non-syndromic genetic deafness 31.9 MYO7A GJB2
12 waardenburg's syndrome 31.9 MYO7A GJB2
13 nonsyndromic hearing loss 31.8 PRPS1 MYO7A GJB2 CLDN9
14 deafness, autosomal recessive 1a 31.8 MYO7A GJB2
15 nonsyndromic deafness 31.8 MYO7A GJB2
16 usher syndrome, type iia 31.8 MYO7A GJB2
17 deafness, autosomal recessive 7 31.8 MYO7A GJB2
18 deafness, autosomal dominant 67 31.7 MIR96 GJB2
19 usher syndrome, type ic 31.7 MYO7A GJB2
20 deafness, autosomal dominant 11 31.7 MYO7A GJB2
21 labyrinthitis 31.7 MYO7A GJB2
22 x-linked nonsyndromic deafness 31.7 PRPS1 GJB2
23 deafness, autosomal recessive 23 31.6 MYO7A GJB2
24 usher syndrome, type id 31.6 MYO7A GJB2
25 autosomal recessive nonsyndromic deafness 3 31.6 MYO7A GJB2
26 deafness, autosomal recessive 2 31.6 MYO7A GJB2
27 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 31.6 MYO7A GJB2
28 deafness, autosomal recessive 12 31.6 MYO7A GJB2
29 deafness, autosomal recessive 3 31.6 MYO7A GJB2
30 autosomal dominant non-syndromic sensorineural deafness type dfna 31.5 MYO7A MIR96 GJB2
31 autosomal dominant nonsyndromic deafness 31.4 MYO7A MIR96 GJB2
32 deafness, autosomal recessive 29 31.4 GJB2 CLDN9
33 deafness, autosomal recessive 49 31.4 GJB2 CLDN9
34 dfnb1 31.4 MYO7A GJB2
35 x-linked charcot-marie-tooth disease 31.4 PRPS1 GJB2
36 middle ear disease 30.8 MIR96 GJB2
37 inner ear disease 30.7 MYO7A MIR96 GJB2
38 auditory system disease 30.6 MYO7A MIR96 GJB2
39 autosomal recessive nonsyndromic deafness 30.4 MYO7A MIR96 GJB2
40 keratitis, hereditary 30.4 MYO7A GJB2
41 usher syndrome type 2 30.0 MYO7A GJB2
42 vestibular disease 29.9 MYO7A GJB2
43 peripheral vertigo 29.6 MYO7A GJB2
44 sensorineural hearing loss 12.0
45 hearing loss, noise-induced 11.7
46 sudden sensorineural hearing loss 11.7
47 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 11.7
48 age-related hearing loss 11.7
49 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.7
50 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 11.7

Graphical network of the top 20 diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:



Diseases related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus

Symptoms & Phenotypes for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Human phenotypes related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
2 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
3 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 cerebral atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002059
7 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
8 bilateral sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0008619
9 atrophy/degeneration affecting the brainstem 58 31 frequent (33%) Frequent (79-30%) HP:0007366
10 sensorimotor neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007141
11 atrophy of the spinal cord 58 31 frequent (33%) Frequent (79-30%) HP:0006827
12 areflexia of lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0002522
13 sensory ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0010871
14 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
15 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
16 cognitive impairment 31 occasional (7.5%) HP:0100543
17 sensorineural hearing impairment 31 HP:0000407
18 type i diabetes mellitus 31 HP:0100651
19 areflexia 31 HP:0001284
20 peripheral neuropathy 31 HP:0009830

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Head And Neck Ears:
sensorineural hearing loss

Growth Weight:
low body mass index

Neurologic Central Nervous System:
gait ataxia
cerebellar atrophy
cerebral atrophy
spinal cord atrophy
brainstem atrophy
more
Endocrine Features:
insulin-dependent diabetes mellitus

Neurologic Peripheral Nervous System:
demyelinating sensorimotor peripheral neuropathy
areflexia of the lower limbs decreased nerve conduction velocities

Clinical features from OMIM®:

616192 (Updated 20-May-2021)

UMLS symptoms related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:


gait ataxia

Drugs & Therapeutics for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Drugs for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silver sulfadiazine Approved, Vet_approved Phase 4 22199-08-2 441244
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Phenol Approved, Experimental Phase 4 108-95-2 996
6
Ethanol Approved Phase 4 64-17-5 702
7
Glycerol Approved, Investigational Phase 4 56-81-5 753
8
Thymol Approved Phase 4 89-83-8 6989
9
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
10
Montelukast Approved Phase 4 158966-92-8 5281040
11
Citalopram Approved Phase 4 59729-33-8 2771
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13
Norepinephrine Approved Phase 4 51-41-2 439260
14
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
15
Dexetimide Withdrawn Phase 4 21888-98-2
16 Pharmaceutical Solutions Phase 4
17 Gastrointestinal Agents Phase 4
18 Antiemetics Phase 4
19 Antineoplastic Agents, Hormonal Phase 4
20 glucocorticoids Phase 4
21 Anti-Inflammatory Agents Phase 4
22
protease inhibitors Phase 4
23 HIV Protease Inhibitors Phase 4
24 Dexamethasone 21-phosphate Phase 4
25 Hormones Phase 4
26 Hormone Antagonists Phase 4
27 Diphosphonates Phase 4
28 Analgesics Phase 4
29 Neurotransmitter Agents Phase 4
30 Ginkgo Phase 4
31 Anti-Asthmatic Agents Phase 4
32 Leukotriene Antagonists Phase 4
33 Psychotropic Drugs Phase 4
34 Dopamine Agents Phase 4
35 Duloxetine Hydrochloride Phase 4
36 Serotonin Uptake Inhibitors Phase 4
37 Antidepressive Agents Phase 4
38 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
39 Anticholesteremic Agents Phase 4
40 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
41 Hypolipidemic Agents Phase 4
42 Lipid Regulating Agents Phase 4
43 BB 1101 Phase 4
44
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
45
Iron Approved Phase 2, Phase 3 7439-89-6 23925 29936
46
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
47
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
48
Dexlansoprazole Approved, Investigational Phase 2, Phase 3 138530-94-6, 103577-45-3 9578005
49
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883
50
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 720)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
3 Development of Auditory Skills in Young Deaf Children With Bilateral Cochlear Implants Unknown status NCT00424307 Phase 4
4 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
5 Evaluation of Benefit for Treatment of Single Sided Deafness (SSD) Between Two Bone Conduction Prosthetic Devices; Osseointegrated Implant Versus Maxilla Anchored Removable Oral Appliance ("SoundBite") Unknown status NCT01933386 Phase 4
6 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
7 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
8 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
9 Randomized, Placebo-Controlled Evaluation of Chlorobutanol, Potassium Carbonate, and Irrigation in Cerumen Removal Completed NCT00765635 Phase 4 drops intilation (Taponoto ® );drops intilation (Otocerum®);drops intilation (Placebo)
10 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
11 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Recruiting NCT04226456 Phase 4 N-acetyl cysteine
12 The Effect of Positive Airway Pressure on Idiopathic Sudden Sensorineural Hearing Loss Comorbided With Obstructive Sleep Apnea: A Clinical Randomized Controlled Study Recruiting NCT04192656 Phase 4 Methylprednisolone Hemisuccinate;Ginaton
13 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Recruiting NCT03321006 Phase 4 Duloxetine or escitalopram
14 Repurposed Use of Allergic Rhinitis and Allergic Asthma Drug to Reduce Vertigo and Hearing Loss in Meniere's Disease Recruiting NCT04815187 Phase 4 Montelukast;Placebo
15 Towards a Self-Administered Hearing Protection Regimen Not yet recruiting NCT04826237 Phase 4 Statin;methylprednisolone;dexamethasone;Placebo
16 A Phase IV, Single-center Study of the Benefits of the Advanced Bionics Naída CI Q90 Acoustic Earhook in Adults Cochlear Implant Recipients. Withdrawn NCT04041596 Phase 4
17 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
18 Clinical Trial on Cochlear Electrical Impedance and the Effect of Topical Dexamethasone on Cochlear Implant Surgery: The Cochlea as a Capacitor Unknown status NCT03374514 Phase 3 Dexamethasone;Sterile isotonic saline solution
19 The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group Unknown status NCT02005822 Phase 3 Valganciclovir
20 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
21 Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation Unknown status NCT00789061 Phase 2, Phase 3 Proton pump inhibitor
22 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
23 Efficacy and Safety of AM-111 in the Treatment of Acute Inner Ear Hearing Loss Completed NCT02561091 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
24 Evaluation of a Binaural Spatialization Method for Hearing Aids, in Terms of Speech Intelligibility, Speaker Localization and Subjective Preference. Completed NCT02693704 Phase 2, Phase 3
25 A Prospective, Randomized, Double Blind, Placebo Controlled, Multicenter Study on the Safety and Efficacy of Continuous Infusion of Corticosteroid Delivered Via Catheter in Patients With Idiopathic Sudden Sensorineural Hearing Loss Completed NCT00335920 Phase 3 Dexamethasone-dihydrogenphosphate (4mg/ml)
26 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
27 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
28 A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss Completed NCT03331627 Phase 3 STR001-IT and STR001-ER
29 Effectiveness of Transtympanic Steroids in Unilateral Ménière's Disease: a Randomised Controlled Double-Blind Trial Completed NCT00802529 Phase 2, Phase 3 Methylprednisolone;Gentamicin
30 Combining Exercise and Cognitive Training to Improve Everyday Function Completed NCT01603784 Phase 3
31 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
32 A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss Recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
33 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Safety and Efficacy of SPI-1005 in Meniere's Disease and Open Label Extension Study to Evaluate the Chronic Safety of SPI-1005 Not yet recruiting NCT04677972 Phase 3 Ebselen;Placebo
34 Efficacy and Safety of AM-111 as Acute Sudden Sensorineural Hearing Loss Treatment Terminated NCT02809118 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
35 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
36 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
37 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
38 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
39 Transtympanic Administration of Lactate: An Innovative Otoprotection for Patients Receiving Cisplatin or Carboplatin Chemotherapy Unknown status NCT01108601 Phase 1, Phase 2 Ringer's Lactate (0.03% Ciprofloxacin)
40 Effectiveness of NECTEC Model, Body-worn, Digital Hearing Aids and Cost of Screening and Hearing Aids Service in Elders Unknown status NCT01902914 Phase 1, Phase 2
41 Safety and Efficacy Study of SPI-1005 for Prevention of Chemotherapy Induced Hearing Loss Unknown status NCT01451853 Phase 2 SPI-1005 Low Dose;SPI-1005 Middle Dose;SPI-1005 High Dose;Placebo
42 Antioxidation Medication for Noise-induced Hearing Loss Completed NCT00552786 Phase 2 N-acetylcysteine (NAC);glucose
43 Phase 1b Randomized, Double-blind, Placebo-controlled Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of SPI-1005 in Meniere's Disease Completed NCT02603081 Phase 1, Phase 2 SPI-1005
44 A Balanced, Randomized, Placebo-Controlled, Double-Blind Study of the Efficacy and Safety of AUT00063 Versus Placebo in Age-Related Hearing Loss [CLARITY-1 Study] Completed NCT02345031 Phase 2 AUT00063;Placebo
45 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
46 A Three-part, Multicenter, Open Label, Single Dose Study to Assess the Safety, Tolerability, and Efficacy of Intra Labyrinthine (IL) CGF166 in Patients With Severe-to-profound Hearing Loss Completed NCT02132130 Phase 1, Phase 2 CGF166
47 Double-blind, Randomized, Placebo-controlled Study on Efficacy, Safety and Tolerability of Ancrod in Patients With Sudden Sensorineural Hearing Loss (SSHL) Completed NCT01621256 Phase 1, Phase 2 Ancrod;Saline solution
48 Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Dose-Escalation Phase II Study Completed NCT00802425 Phase 2 AM-111;placebo
49 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
50 Micronutrient Intervention to Reduce Noise-Induced Hearing Loss: Prevention of Temporary Threshold Changes Induced by Use of a Digital Music Player Completed NCT00808470 Phase 2 beta-carotene, vitamins C and E, magnesium

Search NIH Clinical Center for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus

Cochrane evidence based reviews: heredodegenerative disorders, nervous system

Genetic Tests for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Genetic tests related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

# Genetic test Affiliating Genes
1 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 29 DNAJC3

Anatomical Context for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

MalaCards organs/tissues related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

40
Bone, Brain, Cortex, Heart, Kidney, Eye, Thyroid

Publications for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Articles related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

(show top 50) (show all 30003)
# Title Authors PMID Year
1
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. 61 57 6
25466870 2014
2
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss. 6 61
31175426 2019
3
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
4
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 61 47
19363479 2009
5
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. 57
15793246 2005
6
Progress in free tissue transfer. 6
2256350 1990
7
A case of peritoneal dialysis in which SARS-CoV-2 was diagnosed by sudden hearing loss. 61
33550902 2021
8
Lmo4 Deficiency Enhances Susceptibility to Cisplatin-Induced Cochlear Apoptosis and Hearing Loss. 61
33411315 2021
9
Environmental exposure to organochlorine pesticides and its association with the risk of hearing loss in the Chinese adult population: A case-control study. 61
33636793 2021
10
Cochlear protection against noise exposure requires serotonin type 3A receptor via the medial olivocochlear system. 61
33811700 2021
11
NK/ILC1 cells mediate neuroinflammation and brain pathology following congenital CMV infection. 61
33630019 2021
12
Treatment outcomes of drug resistant tuberculosis patients with multiple poor prognostic indicators in Uganda: A countrywide 5-year retrospective study. 61
33553682 2021
13
A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess. 61
33159669 2021
14
Salt-and-Pepper Retinopathy in a Woman With Hearing Loss. 61
33792648 2021
15
Challenges faced by parents when seeking diagnosis for children with sensorineural hearing loss. 61
33662710 2021
16
Association of occupational noise exposure, bilateral hearing loss with hypertension among Chinese workers. 61
33093308 2021
17
Neuroanatomic Volume Differences in Tinnitus and Hearing Loss. 61
33811641 2021
18
Evaluation of vinpocetine as a therapy in patients with sensorineural hearing loss: A phase II, open-label, single-center study. 61
33712282 2021
19
Modeling Hearing Loss Progression and Asymmetry in the Older Old: A National Population-Based Study. 61
33161587 2021
20
Management of sudden sensorineural hearing loss among primary care physicians in Canada: a survey study. 61
33795010 2021
21
Hearing loss is associated with hippocampal atrophy and high cortisol/dehydroepiandrosterone sulphate ratio in older adults. 61
33100039 2021
22
Persistent Conductive Hearing Loss After Tympanostomy Tube Placement Due to High-Riding Jugular Bulb. 61
33512006 2021
23
Nonsyndromic Congenital Causes of Sensorineural Hearing Loss in Children: An Illustrative Review. 61
33502224 2021
24
A Genome-wide Association Study for Concussion Risk. 61
33017352 2021
25
Hearing outcome measures for conductive and mixed hearing loss treatment in adults: a scoping review. 61
32985284 2021
26
Hearing Loss in SARS-CoV-2: What Do We Know? 61
32755405 2021
27
Immediate changes in transcription factors and synaptic transmission in the cochlea following acoustic trauma: A gene transcriptome study. 61
32417196 2021
28
Longitudinal Association Between Self-Reported Sensory Impairments and Episodic Memory among Older Adults in China: A Prospective Cohort Study. 61
33792435 2021
29
[The development of consonant perception in pediatric cochlear implants of 1-3 years old]. 61
33794634 2021
30
Use of Salvage Surgery or Stereotactic Radiosurgery for Multiply Recurrent Skull Base Chordomas: A Single-Institution Experience and Review of the Literature. 61
33777630 2021
31
Maximising the ability of stimulus-frequency otoacoustic emissions to predict hearing status and thresholds using machine-learning models. 61
32959697 2021
32
Bone-conduction hearing aid is effective in congenital oval window atresia. 61
33439071 2021
33
Tauroursodeoxycholic acid attenuates cisplatin-induced ototoxicity by inhibiting the accumulation and aggregation of unfolded or misfolded proteins in the endoplasmic reticulum. 61
33631298 2021
34
[Traumatic perilymphatic fistula. Report of a pediatric case]. 61
33749210 2021
35
Directed differentiation and direct reprogramming: Applying stem cell technologies to hearing research. 61
33378797 2021
36
A Measure of Long-Term Hearing Aid Use Persistence Based on Battery Reordering Data. 61
33795614 2021
37
Detectability of auditory warning signals in the ambient noise of Dutch train cabins. 61
33059526 2021
38
Displacement of a Total Ossicular Replacement Prosthesis Following Ossicular Chain Reconstruction. 61
32819141 2021
39
Balance impairment in survivors of pediatric brain cancers: risk factors and associated physical limitations. 61
32895869 2021
40
Age-related loss of auditory sensitivity in the zebrafish (Danio rerio). 61
33556775 2021
41
Effect of Contralateral Noise on Speech Intelligibility. 61
33548367 2021
42
Comparative Performance of Lateral Wall and Perimodiolar Cochlear Implant Arrays. 61
33710993 2021
43
The impact of tinnitus on working memory capacity. 61
33000654 2021
44
Dual-laser measurement of human stapes footplate motion under blast exposure. 61
33524791 2021
45
The effect of stimulus intensity on neural envelope tracking. 61
33494033 2021
46
Long-term outcome among females with Alport syndrome from a single pediatric center. 61
33048202 2021
47
Functional treatment of temporal bone chondroblastoma: retrospective analysis of 3 cases. 61
32661717 2021
48
Is Menière's Disease a Contraindication to Stapedectomy? 61
33710988 2021
49
Inflammation at the Tissue-Electrode Interface in a Case of Rapid Deterioration in Hearing Performance Leading to Explant After Cochlear Implantation. 61
33710995 2021
50
Identification of early-stage Meniere's disease as a cause of unilateral tinnitus. 61
33777120 2021

Variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

ClinVar genetic disease variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC12A2 NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr) SNV association 804307 rs1581138944 GRCh37: 5:127512808-127512808
GRCh38: 5:128177116-128177116
2 SLC12A2 NM_001046.3(SLC12A2):c.2930-2A>G SNV association 804308 rs1581138932 GRCh37: 5:127512795-127512795
GRCh38: 5:128177103-128177103
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) SNV association 804309 rs1581138965 GRCh37: 5:127512829-127512829
GRCh38: 5:128177137-128177137
4 SLC12A2 NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys) SNV association 804310 rs1581138934 GRCh37: 5:127512802-127512802
GRCh38: 5:128177110-128177110
5 GJB2 NM_004004.6(GJB2):c.-23G>T SNV Pathogenic 189155 rs786204734 GRCh37: 13:20766922-20766922
GRCh38: 13:20192783-20192783
6 GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) SNV Pathogenic 21389 rs80338941 GRCh37: 13:20763665-20763665
GRCh38: 13:20189526-20189526
7 GJB2 NM_004004.6(GJB2):c.196G>C (p.Asp66His) SNV Pathogenic 17012 rs104894403 GRCh37: 13:20763525-20763525
GRCh38: 13:20189386-20189386
8 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) SNV Pathogenic 44749 rs76434661 GRCh37: 13:20763305-20763305
GRCh38: 13:20189166-20189166
9 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) SNV Pathogenic 17007 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
10 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) SNV Pathogenic 371766 rs1057517519 GRCh37: 13:20763662-20763662
GRCh38: 13:20189523-20189523
11 GJB2 NM_004004.6(GJB2):c.298C>T (p.His100Tyr) SNV Pathogenic 158607 rs143343083 GRCh37: 13:20763423-20763423
GRCh38: 13:20189284-20189284
12 GJB2 NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) SNV Pathogenic 44760 rs397516878 GRCh37: 13:20763150-20763150
GRCh38: 13:20189011-20189011
13 GJB2 NM_004004.6(GJB2):c.35dup (p.Val13fs) Duplication Pathogenic 94392 rs80338939 GRCh37: 13:20763685-20763686
GRCh38: 13:20189546-20189547
14 GJB2 NM_004004.6(GJB2):c.-23+1G>A SNV Pathogenic 17029 rs80338940 GRCh37: 13:20766921-20766921
GRCh38: 13:20192782-20192782
15 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) SNV Pathogenic 44740 rs104894408 GRCh37: 13:20763687-20763687
GRCh38: 13:20189548-20189548
16 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs) Deletion Pathogenic 17004 rs80338939 GRCh37: 13:20763686-20763686
GRCh38: 13:20189547-20189547
17 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) SNV Pathogenic 17002 rs104894396 GRCh37: 13:20763650-20763650
GRCh38: 13:20189511-20189511
18 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>G SNV Pathogenic 88854 rs398122404 GRCh37: 1:65851393-65851393
GRCh38: 1:65385710-65385710
19 GJB2 NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter) SNV Pathogenic 560668 rs375759781 GRCh37: 13:20763247-20763247
GRCh38: 13:20189108-20189108
20 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp) SNV Pathogenic 560669 rs998045226 GRCh37: 13:20763171-20763171
GRCh38: 13:20189032-20189032
21 GJB2 NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs) Indel Pathogenic 44761 rs111033335 GRCh37: 13:20763121-20763129
GRCh38: 13:20188982-20188990
22 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn) SNV Pathogenic 17020 rs28931594 GRCh37: 13:20763573-20763573
GRCh38: 13:20189434-20189434
23 MYO7A NM_000260.4(MYO7A):c.1563del (p.Asp521fs) Deletion Pathogenic 419644 rs1064794012 GRCh37: 11:76873907-76873907
GRCh38: 11:77162861-77162861
24 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) SNV Pathogenic 17005 rs104894398 GRCh37: 13:20763582-20763582
GRCh38: 13:20189443-20189443
25 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs) Deletion Pathogenic 17010 rs80338942 GRCh37: 13:20763554-20763554
GRCh38: 13:20189415-20189415
26 GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) SNV Pathogenic 44725 rs111033297 GRCh37: 13:20763552-20763552
GRCh38: 13:20189413-20189413
27 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs) Deletion Pathogenic 17014 rs80338943 GRCh37: 13:20763486-20763486
GRCh38: 13:20189347-20189347
28 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) SNV Pathogenic 17016 rs80338945 GRCh37: 13:20763452-20763452
GRCh38: 13:20189313-20189313
29 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs) Duplication Pathogenic 177737 rs730880338 GRCh37: 13:20763451-20763452
GRCh38: 13:20189312-20189313
30 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs) Deletion Pathogenic 44737 rs111033253 GRCh37: 13:20763395-20763408
GRCh38: 13:20189256-20189269
31 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) Deletion Pathogenic 189051 rs756484720 GRCh37: 13:20763386-20763387
GRCh38: 13:20189247-20189248
32 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del) Microsatellite Pathogenic 17006 rs80338947 GRCh37: 13:20763361-20763363
GRCh38: 13:20189222-20189224
33 GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) SNV Pathogenic 44742 rs111033295 GRCh37: 13:20763356-20763356
GRCh38: 13:20189217-20189217
34 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) SNV Pathogenic 44744 rs397516874 GRCh37: 13:20763351-20763351
GRCh38: 13:20189212-20189212
35 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) SNV Pathogenic 17009 rs80338948 GRCh37: 13:20763294-20763294
GRCh38: 13:20189155-20189155
36 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) SNV Pathogenic 29662 rs80338950 GRCh37: 13:20763170-20763170
GRCh38: 13:20189031-20189031
37 DNAJC3 NM_006260.5(DNAJC3):c.1177C>T (p.Arg393Ter) SNV Pathogenic 429787 rs1131691593 GRCh37: 13:96438294-96438294
GRCh38: 13:95786040-95786040
38 DNAJC3 NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter) SNV Pathogenic 162620 rs727502865 GRCh37: 13:96412327-96412327
GRCh38: 13:95760073-95760073
39 PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) SNV Likely pathogenic 446163 rs1556300621 GRCh37: X:106888516-106888516
GRCh38: X:107645286-107645286
40 CAPN15 NM_005632.2:c.2904+1_2905-45del Deletion Likely pathogenic 929503 GRCh37:
GRCh38:
41 MYO7A NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) SNV Likely pathogenic 43206 rs199897298 GRCh37: 11:76895733-76895733
GRCh38: 11:77184688-77184688
42 GJB2 NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) SNV Likely pathogenic 499513 rs111033190 GRCh37: 13:20763626-20763626
GRCh38: 13:20189487-20189487
43 GJB2 NM_004004.6(GJB2):c.223C>G (p.Arg75Gly) SNV Likely pathogenic 560666 rs104894402 GRCh37: 13:20763498-20763498
GRCh38: 13:20189359-20189359
44 PRPS1 NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) SNV Likely pathogenic 446164 rs867288458 GRCh37: X:106888517-106888517
GRCh38: X:107645287-107645287
45 CLDN9 NM_020982.4(CLDN9):c.370_372dup (p.Ile124dup) Duplication Likely pathogenic 977488 GRCh37: 16:3063730-3063731
GRCh38: 16:3013729-3013730
46 GJB2 NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) SNV Uncertain significance 560670 rs1451982228 GRCh37: 13:20763161-20763161
GRCh38: 13:20189022-20189022
47 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) SNV Uncertain significance 188488 rs150529554 GRCh37: 13:20763366-20763366
GRCh38: 13:20189227-20189227
48 GJB2 NM_004004.6(GJB2):c.226C>G (p.Leu76Val) SNV Uncertain significance 560667 rs1566528748 GRCh37: 13:20763495-20763495
GRCh38: 13:20189356-20189356
49 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr) SNV Uncertain significance 17000 rs35887622 GRCh37: 13:20763620-20763620
GRCh38: 13:20189481-20189481
50 ATOH1 NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly) SNV Uncertain significance 873538 GRCh37: 4:94750558-94750558
GRCh38: 4:93829407-93829407

Copy number variations for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 125352 19 13800000 16100000 Microdeletion ADGRE5 Hearing loss
2 125358 19 13800000 16100000 Microdeletion DDX39A Hearing loss
3 125364 19 13800000 16100000 Microdeletion GIPC1 Hearing loss
4 125370 19 13800000 16100000 Microdeletion ADGRL1 Hearing loss
5 125376 19 13800000 16100000 Microdeletion PKN1 Hearing loss
6 125382 19 13800000 16100000 Microdeletion PTGER1 Hearing loss
7 207179 6 152600000 160900000 Deletion Hearing loss

Expression for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Search GEO for disease gene expression data for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus.

Pathways for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Pathways related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

GO Terms for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

Biological processes related to Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inner ear development GO:0048839 8.62 MYO7A GJB2

Sources for Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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