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 56 73 36 29 6 39 71
Hearing Loss 43 39 17
Acphd 56 73
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 43

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:

56
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 autosomal dominant non-syndromic sensorineural deafness type dfna and deafness, autosomal dominant 67, 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 Prednisone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain, and related phenotypes are short stature and diabetes mellitus

UniProtKB/Swiss-Prot : 73 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 2274)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic sensorineural deafness type dfna 32.3 MIR96 GJB2
2 deafness, autosomal dominant 67 31.9 MIR96 GJB2
3 autosomal dominant nonsyndromic deafness 31.4 MIR96 GJB2
4 autosomal recessive nonsyndromic deafness 30.6 MIR96 GJB2
5 auditory system disease 29.9 MIR96 GJB2
6 inner ear disease 29.8 MIR96 GJB2
7 sensorineural hearing loss 13.0
8 nonsyndromic hearing loss 12.8
9 age-related hearing loss 12.8
10 hearing loss, noise-induced 12.8
11 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.8
12 cone-rod dystrophy and hearing loss 1 12.7
13 sudden sensorineural hearing loss 12.7
14 congenital cataracts, hearing loss, and neurodegeneration 12.7
15 camptodactyly, tall stature, and hearing loss syndrome 12.7
16 epilepsy, hearing loss, and mental retardation syndrome 12.7
17 peripheral neuropathy, myopathy, hoarseness, and hearing loss 12.7
18 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.7
19 cone-rod dystrophy and hearing loss 2 12.7
20 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.7
21 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.7
22 hearing loss, cisplatin-induced 12.7
23 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.6
24 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 12.6
25 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.6
26 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.6
27 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.6
28 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 12.6
29 drug-induced hearing loss 12.5
30 epiphyseal dysplasia hearing loss dysmorphism 12.5
31 hereditary hearing loss and deafness 12.5
32 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.5
33 congenital ectodermal dysplasia with hearing loss 12.5
34 nonsyndromic hearing loss and deafness, dfnb1 12.5
35 dfnx1 nonsyndromic hearing loss and deafness 12.5
36 cutaneous mastocytosis, conductive hearing loss and microtia 12.5
37 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.5
38 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.5
39 nonsyndromic hearing loss and deafness, mitochondrial 12.4
40 nonsyndromic hearing loss and deafness, dfna3 12.4
41 dfna2 nonsyndromic hearing loss 12.4
42 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.4
43 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.4
44 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.4
45 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 12.4
46 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 12.4
47 mitochondrial dna-related cardiomyopathy and hearing loss 12.4
48 congenital hereditary facial paralysis-variable hearing loss syndrome 12.3
49 deafness, nonsyndromic sensorineural, mitochondrial 12.3
50 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.3

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 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
2 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
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 peripheral neuropathy 31 HP:0009830
20 areflexia 31 HP:0001284

Symptoms via clinical synopsis from OMIM:

56
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

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 343)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
10
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12
Sodium citrate Approved, Investigational Phase 4 68-04-2
13
Phenol Approved, Experimental Phase 4 108-95-2 996
14
Thymol Approved Phase 4 89-83-8 6989
15
Glycerol Approved, Investigational Phase 4 56-81-5 753
16
Ethanol Approved Phase 4 64-17-5 702
17
Prilocaine Approved Phase 4 721-50-6 4906
18
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
19
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
20
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
21
Azathioprine Approved Phase 4 446-86-6 2265
22
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
23
Citalopram Approved Phase 4 59729-33-8 2771
24
Norepinephrine Approved Phase 4 51-41-2 439260
25
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
26
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
27
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
28
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
29
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
30 Sodium Channel Blockers Phase 4
31 Anti-Arrhythmia Agents Phase 4
32 Diuretics, Potassium Sparing Phase 4
33 Hormones Phase 4
34 Antineoplastic Agents, Hormonal Phase 4
35 Hormone Antagonists Phase 4
36 glucocorticoids Phase 4
37 Anti-Inflammatory Agents Phase 4
38 Methylprednisolone Acetate Phase 4
39 Neuroprotective Agents Phase 4
40 Antiemetics Phase 4
41 Gastrointestinal Agents Phase 4
42 Protective Agents Phase 4
43
protease inhibitors Phase 4
44 HIV Protease Inhibitors Phase 4
45 Dexamethasone 21-phosphate Phase 4
46 BB 1101 Phase 4
47 Antacids Phase 4
48 Proton Pump Inhibitors Phase 4
49 Anti-Ulcer Agents Phase 4
50 Analgesics, Non-Narcotic Phase 4

Interventional clinical trials:

(show top 50) (show all 956)
# 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 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
3 Development of Auditory Skills in Young Deaf Children With Bilateral Cochlear Implants Unknown status NCT00424307 Phase 4
4 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
5 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
6 Lidocaine Patch (Lidocaine 5%) as a Treatment for Tinnitus and Its Accompanied Symptoms Unknown status NCT02750969 Phase 4
7 Diaphragmatic Movement Before and After Stellate Ganglion Block : A Ultrasonographic Study Completed NCT01054378 Phase 4
8 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
9 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
10 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)
11 A Multicentre, Double-Blind, Randomized, Placebo-Controlled, Parallel Group Study Of The Efficacy and Safety Of Sildenafil Given For The Acute Treatment Of Meniere's Disease Completed NCT00145483 Phase 4 Sildenafil
12 Prospective Clinical Study for Confirmation of Efficacy and Safety of Acoustic CR®-Neuromodulation by CE Marked ANM T30 CR®-System in a "Real Life" Patient Population With Chronic Tonal Tinnitus Completed NCT01435317 Phase 4
13 Acetylcystein Vid Stapedotomi Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
14 Role of Empiric Anti-reflux Therapy in Pediatric Otitis Media With Effusion - a Pilot Study Completed NCT01082029 Phase 4 Lansoprazole;Placebo
15 A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00607386 Phase 4
16 Should Physicians Use a 24 Gauge Spinal Needle Instead of a 22 Gauge When Performing a Lumbar Puncture ? A Randomized Controlled Trial. Completed NCT01481922 Phase 4
17 EMLA 5% as a Treatment for Tinnitus and Its Accompanied Symptoms Completed NCT02266160 Phase 4 EMLA cream 5%
18 Comparison of Postoperative Infection and Graft Uptake Rate Using Single Dose of Intravenous Co-amoxiclav Versus no Antibiotic in Children Undergoing Myringoplasty Completed NCT03700814 Phase 4 Co-amoxiclav
19 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
20 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
21 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
22 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
23 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
24 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Not yet recruiting NCT04226456 Phase 4 N-acetyl cysteine
25 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Suspended NCT03321006 Phase 4 Duloxetine or escitalopram
26 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
27 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
28 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
29 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
30 A Multicenter Randomized Study of Cochlear Sparing Intensity Modulated Radiotherapy Versus Conventional Radiotherapy in Patients With Parotid Tumors Unknown status NCT01216800 Phase 3
31 Phase III Open Study, Prospective, Multicenter, Randomized, Comparative to the Positive Control for Evaluating the Efficacy and Safety of Auris-Sedina in the Symptomatic Control of Otalgy in Patients With or Without Acute External Otitis. Unknown status NCT00967317 Phase 3 Auris-Sedina;Otosynalar®
32 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
33 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
34 Assessment of Acyclovir Efficacy Versus Placebo in Controlling Vertigo Attacks of Patients With Meniere's Disease Visited in Amiralam Hospital Unknown status NCT01729767 Phase 2, Phase 3 Acyclovir;Placebo
35 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
36 Phase III Randomized Trial of Comparing CCRT vs. RT Alone for Cervical Cancer Patients Primarily Treated by Radiotherapy and With Clinically Defined Good-prognosis Unknown status NCT00846508 Phase 3 Cisplatin
37 PneuMum: A Randomised Controlled Trial of Pneumococcal Polysaccharide Vaccination for Aboriginal and Torres Strait Islander Mothers to Protect Their Babies From Ear Disease Unknown status NCT00310349 Phase 3
38 A Prospective Multicenter Double Blind Randomized Controlled Trial to Explore the Tolerability, Safety and Efficacy of the H1-Coil Deep Transcranial Magnetic Stimulation (TMS) in Subjects With Schizophrenia Experiencing Auditory Hallucinations Unknown status NCT00564096 Phase 2, Phase 3
39 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
40 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
41 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
42 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)
43 Effectiveness of Transtympanic Steroids in Unilateral Ménière's Disease: a Randomised Controlled Double-Blind Trial Completed NCT00802529 Phase 2, Phase 3 Methylprednisolone;Gentamicin
44 A Phase III Trial of Magnesium Dependent Tinnitus Completed NCT01273883 Phase 3
45 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
46 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
47 Prevention of Cisplatin Ototoxicity With the Antioxidant Alpha-Lipoic Acid Completed NCT00477607 Phase 2, Phase 3 alpha-lipoic acid;Placebo
48 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
49 Acute Otitis Media: Adjuvant Therapy to Improve Outcome Completed NCT00000363 Phase 3 Antihistamine;Corticosteroid
50 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3

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, Testes, Brain, Cortex, Heart, Eye, Kidney

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 30001)
# Title Authors PMID Year
1
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. 61 6 56
25466870 2014
2
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 46 61
19363479 2009
3
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. 56
15793246 2005
4
Selective Loss of Calretinin-Poor Cochlear Afferent Nerve Fibers in Streptozotocin-Induced Hyperglycemic Mice. 61
32331128 2020
5
Association between pyrethroid pesticide exposure and hearing loss in adolescents. 61
32460092 2020
6
Unique skeletal manifestations in patients with Primrose syndrome. 61
32473227 2020
7
Abnormal cochleovestibular anatomy and imaging: Lack of consistency across quality of images, sequences obtained, and official reports. 61
32278987 2020
8
Acute vestibular syndrome and hearing loss mimicking labyrinthitis as initial presentation of multiple sclerosis. 61
32353617 2020
9
Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants. 61
32506814 2020
10
Microvascular decompression for hemifacial spasm associated with distinct offending vessels: A retrospective clinical study. 61
32413816 2020
11
The results of hearing screening in refugee school children living in Şanliurfa /Turkey and the related risk factors. 61
32289664 2020
12
Comment on "Mortality and Cause of Death in Hearing Loss Participants: A Longitudinal Follow-Up Study Using a National Sample Cohort". 61
32569246 2020
13
Reply to the Comment on Mortality and Cause of Death in Hearing Loss Participants: A Longitudinal Follow-Up Study Using a National Sample Cohort. 61
32569247 2020
14
Investigation of the prognostic role of neutrophil-to-lymphocyte ratio in Idiopathic Sudden Sensorineural Hearing Loss based on propensity score matching: a retrospective observational study. 61
32170418 2020
15
ALA protects against ERS-mediated apoptosis in a cochlear cell model with low citrate synthase expression. 61
32418909 2020
16
Positive Selection and Inactivation in the Vision and Hearing Genes of Cetaceans. 61
32170943 2020
17
Changes in Wide-band Tympanometry Absorbance Following Cochlear Implantation. 61
32221111 2020
18
Surgical Labyrinthectomy and Cochlear Implantation in Menière's Disease. 61
32282785 2020
19
Enlarged vestibular aqueduct: Intraoperative electrocochleography findings during cochlear implantation. 61
32361253 2020
20
Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report. 61
32251972 2020
21
Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis. 61
32097363 2020
22
Diagnostic and therapeutic applications of genomic medicine in progressive, late-onset, nonsyndromic sensorineural hearing loss. 61
32304785 2020
23
Impact of early gastroesophageal reflux disease on childhood otologic outcomes. 61
32371356 2020
24
Parental Judgement of Hearing Loss in Infants With Cleft Palate. 61
32013560 2020
25
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study. 61
31593348 2020
26
Single-Sided Deafness-Outcomes of Three Interventions for Profound Unilateral Sensorineural Hearing Loss: A Randomized Clinical Trial. 61
32574478 2020
27
Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations. 61
32377700 2020
28
Silk-coated dexamethasone non-spherical microcrystals for local drug delivery to inner ear. 61
32360767 2020
29
The relationship between the structure and toxicity of aminoglycoside antibiotics. 61
32360102 2020
30
Audiologic testing in children with Down Syndrome: Are current guidelines optimal? 61
32251971 2020
31
Endogenous α1-antitrypsin levels in the perilymphatic fluid correlates with severity of hearing loss. 61
32246580 2020
32
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. 61
32279305 2020
33
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). 61
32231217 2020
34
Treating the Individual Ear in Children: Results of Cochlear Implantation in Children With Asymmetric Sensory Hearing Loss. 61
32574479 2020
35
Schoolchildren with unilateral or mild to moderate bilateral sensorineural hearing loss should be screened for neurodevelopmental problems. 61
31769539 2020
36
Intratympanic application of triamcinolone in sudden hearing loss-radiologic anatomy in cone beam CT and its' correlation to clinical outcome. 61
32206871 2020
37
Global resting-state functional connectivity of neural oscillations in tinnitus with and without hearing loss. 61
32243040 2020
38
40 Hz auditory steady-state response in eleven subjects with false hearing loss. 61
32198972 2020
39
Otoprotective Effects of α-lipoic Acid on A/J Mice With Age-related Hearing Loss. 61
32282782 2020
40
Using corticosteroids to treat sudden sensorineural hearing loss in pregnancy: A case report and literature review. 61
32346519 2020
41
Does Hearing Loss in the Elderly Individuals Conform to Impairment of Specific Cognitive Domains? 61
31522629 2020
42
Nature and extent of hearing loss in HIV-infected children: A scoping review. 61
32335463 2020
43
Etiological profile of hearing loss amongst Lithuanian pediatric cochlear implant users. 61
32305661 2020
44
Eustachian Tube Dysfunction in Children With Unilateral Cleft Lip and Palate: Differences Between Ipsilateral and Contralateral Ears. 61
31867994 2020
45
Brain-derived nerve growth factor in the cochlea - a reproducibility study. 61
32503640 2020
46
Results of hearing screening of school-age children in Bishkek, Kyrgyzstan. 61
32517843 2020
47
Better Hearing in Norway: A Comparison of Two HUNT Cohorts 20 Years Apart. 61
32541261 2020
48
The impact of medical interventions for reducing ototoxicity during treatment for multi-drug resistant tuberculosis. 61
32517872 2020
49
White-matter integrity and hearing acuity decline in healthy subjects: Magnetic resonance tractography. 61
32216576 2020
50
Clinical features of 22q11.2 deletion syndrome related to hearing and communication. 61
32493099 2020

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 all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A2 NM_001046.3(SLC12A2):c.2935G>A (p.Glu979Lys)SNV association 804310 5:127512802-127512802 5:128177110-128177110
2 SLC12A2 NM_001046.3(SLC12A2):c.2941G>T (p.Asp981Tyr)SNV association 804307 5:127512808-127512808 5:128177116-128177116
3 SLC12A2 NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr)SNV association 804309 5:127512829-127512829 5:128177137-128177137
4 SLC12A2 NM_001046.3(SLC12A2):c.2930-2A>GSNV association 804308 5:127512795-127512795 5:128177103-128177103
5 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
6 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
7 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
8 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
9 GJB2 NM_004004.6(GJB2):c.355_357GAG[1] (p.Glu120del)short repeat Pathogenic 17006 rs80338947 13:20763361-20763363 13:20189222-20189224
10 GJB2 NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)SNV Pathogenic 560669 rs998045226 13:20763171-20763171 13:20189032-20189032
11 GJB2 NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)SNV Pathogenic 560668 rs375759781 13:20763247-20763247 13:20189108-20189108
12 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
13 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
14 GJB2 NM_004004.6(GJB2):c.196G>C (p.Asp66His)SNV Pathogenic 17012 rs104894403 13:20763525-20763525 13:20189386-20189386
15 GJB2 NM_004004.6(GJB2):c.235del (p.Leu79fs)deletion Pathogenic 17014 rs80338943 13:20763486-20763486 13:20189347-20189347
16 GJB2 NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)SNV Pathogenic 17020 rs28931594 13:20763573-20763573 13:20189434-20189434
17 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
18 GJB2 NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)SNV Pathogenic 44725 rs111033297 13:20763552-20763552 13:20189413-20189413
19 GJB2 NM_004004.6(GJB2):c.313_326del (p.Lys105fs)deletion Pathogenic 44737 rs111033253 13:20763395-20763408 13:20189256-20189269
20 GJB2 NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)SNV Pathogenic 44744 rs397516874 13:20763351-20763351 13:20189212-20189212
21 DNAJC6 NM_001256864.2(DNAJC6):c.801-2A>GSNV Pathogenic 88854 rs398122404 1:65851393-65851393 1:65385710-65385710
22 GJB2 NM_004004.6(GJB2):c.269dup (p.Val91fs)duplication Pathogenic 177737 rs730880338 13:20763451-20763452 13:20189312-20189313
23 GJB2 NM_004004.6(GJB2):c.334_335del (p.Lys112fs)deletion Pathogenic/Likely pathogenic 189051 rs756484720 13:20763386-20763387 13:20189247-20189248
24 GJB2 NM_004004.5(GJB2):c.592_600delGTGTCTGGAinsCAGTGTTCATGACATTC (p.Val198Glnfs)indel Pathogenic/Likely pathogenic 44761 rs111033335 13:20763121-20763129 13:20188982-20188990
25 GJB2 NM_004004.6(GJB2):c.298C>T (p.His100Tyr)SNV Pathogenic/Likely pathogenic 158607 rs143343083 13:20763423-20763423 13:20189284-20189284
26 GJB2 NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)SNV Pathogenic/Likely pathogenic 29662 rs80338950 13:20763170-20763170 13:20189031-20189031
27 GJB2 NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)SNV Pathogenic/Likely pathogenic 44742 rs111033295 13:20763356-20763356 13:20189217-20189217
28 GJB2 NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)SNV Pathogenic/Likely pathogenic 499513 rs111033190 13:20763626-20763626 13:20189487-20189487
29 PRPS1 NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp)SNV Likely pathogenic 446163 rs1556300621 X:106888516-106888516 X:107645286-107645286
30 PRPS1 NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro)SNV Likely pathogenic 446164 rs867288458 X:106888517-106888517 X:107645287-107645287
31 GJB2 NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)SNV Likely pathogenic 560666 rs104894402 13:20763498-20763498 13:20189359-20189359
32 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
33 GJB2 NM_004004.6(GJB2):c.-23G>TSNV Likely pathogenic 189155 rs786204734 13:20766922-20766922 13:20192783-20192783
34 MSRB3 NM_001031679.3(MSRB3):c.264-1G>ASNV Likely pathogenic 228274 rs201306709 12:65762777-65762777 12:65368997-65368997
35 GJB2 NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)SNV Likely pathogenic 371766 rs1057517519 13:20763662-20763662 13:20189523-20189523
36 GJB2 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)SNV Conflicting interpretations of pathogenicity 188488 rs150529554 13:20763366-20763366 13:20189227-20189227
37 GJB2 NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)SNV Conflicting interpretations of pathogenicity 21389 rs80338941 13:20763665-20763665 13:20189526-20189526
38 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
39 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
40 DNAJC3 NM_006260.5(DNAJC3):c.580C>T (p.Arg194Ter)SNV Conflicting interpretations of pathogenicity 162620 rs727502865 13:96412327-96412327 13:95760073-95760073
41 GJB2 NM_004004.6(GJB2):c.35dup (p.Val13fs)duplication Conflicting interpretations of pathogenicity 94392 rs80338939 13:20763685-20763686 13:20189546-20189547
42 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
43 ATOH1 NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)SNV Uncertain significance 873538 4:94750558-94750558 4:93829407-93829407
44 GJB2 NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)SNV Uncertain significance 560670 rs1451982228 13:20763161-20763161 13:20189022-20189022
45 GJB2 NM_004004.6(GJB2):c.226C>G (p.Leu76Val)SNV Uncertain significance 560667 rs1566528748 13:20763495-20763495 13:20189356-20189356
46 GJB2 NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)SNV Uncertain significance 44760 rs397516878 13:20763150-20763150 13:20189011-20189011
47 SLC26A4 NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)SNV Uncertain significance 229257 rs764791809 7:107353065-107353065 7:107712620-107712620
48 OTOG NM_001277269.1(OTOG):c.7033G>A (p.Val2345Met)SNV Uncertain significance 229100 rs188832359 11:17653698-17653698 11:17632151-17632151
49 GJB2 NM_004004.6(GJB2):c.646A>C (p.Arg216=)SNV Likely benign 560671 rs1446334784 13:20763075-20763075 13:20188936-20188936

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

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# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 125352 19 13800000 16100000 Microdeletion CD97 Hearing loss
2 125358 19 13800000 16100000 Microdeletion DDX39 Hearing loss
3 125364 19 13800000 16100000 Microdeletion GIPC1 Hearing loss
4 125370 19 13800000 16100000 Microdeletion LPHN1 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...

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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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