ACPHD
MCID: ATX031
MIFTS: 56

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 74 29 6 40 72
Hearing Loss 44 40 17
Acphd 57 74
Juvenile-Onset Diabetes Mellitus-Central and Peripheral Neurodegeneration Syndrome 59
Combined Cerebellar and Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome 59
Heredodegenerative Disorders, Nervous System 44

Characteristics:

Orphanet epidemiological data:

59
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood,Infancy;

OMIM:

57
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:

32
ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616192
ICD10 33 H91.8 H91.9
Orphanet 59 ORPHA445062
UMLS 72 C4015436

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

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus, also known as hearing loss, is related to sensorineural hearing loss and age-related hearing loss, 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). 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 diabetes mellitus and short stature

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 2218)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 13.0
2 age-related hearing loss 12.8
3 hearing loss, noise-induced 12.8
4 camptodactyly, tall stature, and hearing loss syndrome 12.8
5 cone-rod dystrophy and hearing loss 1 12.8
6 sudden sensorineural hearing loss 12.8
7 congenital cataracts, hearing loss, and neurodegeneration 12.7
8 epilepsy, hearing loss, and mental retardation syndrome 12.7
9 peripheral neuropathy, myopathy, hoarseness, and hearing loss 12.7
10 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.7
11 cone-rod dystrophy and hearing loss 2 12.7
12 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.7
13 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.7
14 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.7
15 hearing loss, cisplatin-induced 12.7
16 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 12.6
17 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.6
18 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.6
19 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.6
20 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.6
21 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.6
22 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.6
23 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 12.6
24 drug-induced hearing loss 12.5
25 hereditary hearing loss and deafness 12.5
26 dfna2 nonsyndromic hearing loss 12.5
27 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.5
28 epiphyseal dysplasia hearing loss dysmorphism 12.5
29 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.5
30 congenital ectodermal dysplasia with hearing loss 12.5
31 nonsyndromic hearing loss and deafness, dfnb1 12.5
32 dfnx1 nonsyndromic hearing loss and deafness 12.5
33 cutaneous mastocytosis, conductive hearing loss and microtia 12.5
34 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.5
35 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.5
36 nonsyndromic deafness 12.4
37 nonsyndromic hearing loss and deafness, mitochondrial 12.4
38 nonsyndromic hearing loss and deafness, dfna3 12.4
39 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.4
40 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.4
41 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 12.4
42 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 12.4
43 mitochondrial dna-related cardiomyopathy and hearing loss 12.4
44 congenital hereditary facial paralysis-variable hearing loss syndrome 12.3
45 deafness, autosomal dominant 1 12.3
46 deafness, x-linked 2 12.3
47 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.3
48 nonsyndromic hereditary sensorineural hearing loss 12.3
49 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.3
50 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
3 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
4 areflexia of lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0002522
5 decreased body weight 59 32 frequent (33%) Frequent (79-30%) HP:0004325
6 cerebellar atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001272
7 sensorimotor neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007141
8 atrophy/degeneration affecting the brainstem 59 32 frequent (33%) Frequent (79-30%) HP:0007366
9 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
10 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
11 sensory ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0010871
12 bilateral sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0008619
13 atrophy of the spinal cord 59 32 frequent (33%) Frequent (79-30%) HP:0006827
14 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
15 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
16 cognitive impairment 32 occasional (7.5%) HP:0100543
17 sensorineural hearing impairment 32 HP:0000407
18 type i diabetes mellitus 32 HP:0100651
19 areflexia 32 HP:0001284
20 peripheral neuropathy 32 HP:0009830

Symptoms via clinical synopsis from OMIM:

57
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 382)
# 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 hemisuccinate Approved Phase 4 2921-57-5
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
7
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
8
Sodium citrate Approved, Investigational Phase 4 68-04-2
9
Ethanol Approved Phase 4 64-17-5 702
10
Glycerol Approved, Investigational Phase 4 56-81-5 753
11
Phenol Approved, Experimental Phase 4 108-95-2 996
12
Thymol Approved Phase 4 89-83-8 6989
13
Prilocaine Approved Phase 4 721-50-6 4906
14
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
15
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
16
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
17
Azathioprine Approved Phase 4 446-86-6 2265
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19
Citalopram Approved Phase 4 59729-33-8 2771
20
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
21
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
22
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
23 Hormone Antagonists Phase 4
24 glucocorticoids Phase 4
25 Hormones Phase 4
26 Anti-Inflammatory Agents Phase 4
27 Antineoplastic Agents, Hormonal Phase 4
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
29 Antiemetics Phase 4
30 Dexamethasone 21-phosphate Phase 4
31 Gastrointestinal Agents Phase 4
32 Peripheral Nervous System Agents Phase 4
33 Autonomic Agents Phase 4
34 Protective Agents Phase 4
35 Neuroprotective Agents Phase 4
36 Methylprednisolone Acetate Phase 4
37 Prednisolone acetate Phase 4
38 Analgesics Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Anti-Inflammatory Agents, Non-Steroidal Phase 4
41 Anti-Infective Agents Phase 4
42 Citrate Phase 4
43 Antitubercular Agents Phase 4
44 Phosphodiesterase Inhibitors Phase 4
45 Phosphodiesterase 5 Inhibitors Phase 4
46 Sildenafil Citrate Phase 4 171599-83-0
47 Antiparasitic Agents Phase 4
48 Antimalarials Phase 4
49 Antiprotozoal Agents Phase 4
50 Retinol palmitate Phase 4

Interventional clinical trials:

(show top 50) (show all 866)
# 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 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 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
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 Role of Empiric Anti-reflux Therapy in Pediatric Otitis Media With Effusion - a Pilot Study Completed NCT01082029 Phase 4 Lansoprazole;Placebo
13 Acetylcystein Vid Stapedotomi Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
14 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
15 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
16 EMLA 5% as a Treatment for Tinnitus and Its Accompanied Symptoms Completed NCT02266160 Phase 4 EMLA cream 5%
17 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
18 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
19 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
20 Local Steroid Injection vs Wrist Splinting for Carpal Tunnel Syndrome: A Randomized Clinical Trial Completed NCT02140632 Phase 4
21 Treating Hearing Loss to Improve Mood and Cognition in Older Adults Recruiting NCT03321006 Phase 4 Duloxetine
22 Lidocaine Patch (Lidocaine 5%) as a Treatment for Tinnitus and Its Accompanied Symptoms Recruiting NCT02750969 Phase 4
23 A Phase IV, Single-center Study of the Benefits of the Advanced Bionics Naída CI Q90 Acoustic Earhook in Adults Cochlear Implant Recipients. Not yet recruiting NCT04041596 Phase 4
24 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
25 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
26 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
27 A Multicenter Randomized Study of Cochlear Sparing Intensity Modulated Radiotherapy Versus Conventional Radiotherapy in Patients With Parotid Tumors Unknown status NCT01216800 Phase 3
28 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®
29 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
30 A Prospective Randomised Controlled Trial Of Hyperfractionated Versus Conventionally Fractionated Radiotherapy In Standard Risk Medulloblastoma Unknown status NCT00053872 Phase 3 cisplatin;lomustine;vincristine sulfate
31 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
32 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
33 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
34 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
35 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
36 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
37 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)
38 Effectiveness of Transtympanic Steroids in Unilateral Ménière's Disease: a Randomised Controlled Double-Blind Trial Completed NCT00802529 Phase 2, Phase 3 Methylprednisolone;Gentamicin
39 A Phase III Trial of Magnesium Dependent Tinnitus Completed NCT01273883 Phase 3
40 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
41 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
42 Prevention of Cisplatin Ototoxicity With the Antioxidant Alpha-Lipoic Acid Completed NCT00477607 Phase 2, Phase 3 alpha-lipoic acid;Placebo
43 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
44 Acute Otitis Media: Adjuvant Therapy to Improve Outcome Completed NCT00000363 Phase 3 Antihistamine;Corticosteroid
45 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
46 Short Term Relief of Eustachian Tube Dysfunction and Serous Otitis Media Using Intranasal Steroid Sprays: a Randomized Placebo-controlled Study Completed NCT00279916 Phase 3 Triamcinolone acetonide nasal spray;Placebo nasal spray
47 Aminophylline for Patients With Post-Dural Puncture Headache: a Prospective, Multi-center, Randomized Controlled Trial Completed NCT02522013 Phase 3 Aminophylline;isotonic saline
48 Effect of the Fibrin Monomer in the Integrity of the Graft During Tympanoplasty Compared With the Effect of the Hemostatic Sponge Completed NCT02120651 Phase 3
49 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
50 Oral Glycerol and High-Dose Rectal Paracetamol to Improve the Prognosis of Childhood Bacterial Meningitis - A Prospective, Randomized, and Double-Blind Clinical Study Using a Two-by-Two Factorial Design Completed NCT00619203 Phase 3 Glycerol and paracetamol;Paracetamol;Paracetamol;Paracetamol;Placebo;Paracetamol and glycerol;Glycerol

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:

41
Bone, Testes, Brain, Cortex, Eye, Heart, Skin

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. 38 8 71
25466870 2014
2
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss. 38 88
19363479 2009
3
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK. 8
15793246 2005
4
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia). 38
31213145 2019
5
Nanoparticle-based drug delivery in the inner ear: current challenges, limitations and opportunities. 38
30987439 2019
6
Oral administration of an herbal medicine to prevent progressive hearing loss in a mouse model of diabetes. 38
30799140 2019
7
Microglial activation in the cochlear nucleus after early hearing loss in rats. 38
30827793 2019
8
Hearing loss as a risk factor for cognitive impairment and loss of synapses in the hippocampus. 38
31271817 2019
9
Expression of C-type lectin receptor mRNA in otitis media with effusion and chronic otitis media with and without cholesteatoma. 38
30609964 2019
10
The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. 38
31200317 2019
11
Reduced postnatal expression of cochlear Connexin26 induces hearing loss and affects the developmental status of pillar cells in a dose-dependent manner. 38
31034913 2019
12
Identification of novel cadherin 23 variants in a Chinese family with hearing loss. 38
31322239 2019
13
Animal and human studies on developmental monaural hearing loss. 38
31185378 2019
14
Peripheral and central hearing impairment and their relationship with cognition: a review. 38
30939073 2019
15
Evaluation of brain SERT with 4-[18F]-ADAM/micro-PET and hearing protective effects of dextromethorphan in hearing loss rat model. 38
31153898 2019
16
Developments of children with hearing loss according to the age of diagnosis, amplification, and training in the early childhood period. 38
31190221 2019
17
Knowledge and attitude on childhood hearing loss among mothers and mothers-to-be in urban and rural areas in Malaysia. 38
31174022 2019
18
Sensorineural Hearing Loss in the Nonimplanted Ear Following Cochlear Implantation in a Patient With Bilateral Enlarged Vestibular Aqueducts. 38
31348130 2019
19
A qualitative investigation of families' needs in the transition to early intervention after diagnosis of hearing loss. 38
31209907 2019
20
A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene. 38
31406620 2019
21
Isolated malleus fixation: A pediatric case series. 38
31136915 2019
22
The value of ABR- and ASSR-based hearing estimation in young children with congenital monaural malformation (atresia). 38
31240977 2019
23
Genetic testing for congenital non-syndromic sensorineural hearing loss. 38
31163360 2019
24
Magnetic resonance imaging findings in idiopathic sudden sensorineural hearing loss. 38
31392900 2019
25
The deafness gene GSDME: its involvement in cell apoptosis, secondary necrosis, and cancers. 38
31230091 2019
26
Bilateral asymmetrical partial heterochromia of iris and fundus in Waardenburg syndrome type 2A with a novel MITF gene mutation. 38
31436206 2019
27
Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred. 38
31176026 2019
28
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. 38
31241255 2019
29
Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. 38
31323543 2019
30
Neuroprotective factors and incident hearing impairment in the epidemiology of hearing loss study. 38
30698838 2019
31
Sensorineural hearing loss and cognitive impairments: Contributions of thalamus using multiparametric MRI. 38
30694013 2019
32
The Influence of Metabolic Syndrome on the Prognosis of Idiopathic Sudden Sensorineural Hearing Loss. 38
31335801 2019
33
Generic Quality of Life in Persons With Hearing Loss: A Review of the Recent Literature: Retraction. 38
31415484 2019
34
Acute Presentation of Vestibular Schwannoma Secondary to Intratumoral Hemorrhage: A Case Report and Literature Review. 38
31103763 2019
35
Does access to saltwater swimming pools reduce ear pathology and hearing loss in school children of remote arid zone aboriginal communities? A prospective 3-year cohort study. 38
31095860 2019
36
Cochlear involvement in patients with systemic autoimmune rheumatic diseases: a clinical and laboratory comparative study. 38
31175453 2019
37
Associations between self-reported hearing loss and outdoor activity limitations, psychological distress and self-reported memory loss among older people: Analysis of the 2016 Comprehensive Survey of Living Conditions in Japan. 38
31237108 2019
38
Social determinants of the association among cerebrovascular disease, hearing loss and cognitive impairment in a middle-aged or older population: Recurrent neural network analysis of the Korean Longitudinal Study of Aging (2014-2016). 38
31257714 2019
39
Hormone therapy is not associated with the risk of sudden sensorineural hearing loss in postmenopausal women: a 10-year nationwide population-based study. 38
30969183 2019
40
Alterations of structural and functional connectivity in profound sensorineural hearing loss infants within an early sensitive period: A combined DTI and fMRI study. 38
31129460 2019
41
Down-regulation of Cav1.3 in auditory pathway promotes age-related hearing loss by enhancing calcium-mediated oxidative stress in male mice. 38
31425146 2019
42
Awareness, attitudes, and beliefs about music-induced hearing loss: Towards the development of a health communication strategy to promote safe listening. 38
30935699 2019
43
A parsimonious approach for screening moderate-to-profound hearing loss in a community-dwelling geriatric population based on a decision tree analysis. 38
31390985 2019
44
Patient-reported involvement of the eighth cranial nerve in giant cell arteritis. 38
31420810 2019
45
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. 38
31250571 2019
46
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern. 38
31103816 2019
47
Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking. 38
31327459 2019
48
Lessons From an Analysis of Newborn Hearing Screening Data for Children With Cochlear Implants. 38
31436632 2019
49
Pediatric hearing screening in low-resource settings: Incorporation of video-otoscopy and an electronic medical record. 38
31421355 2019
50
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment. 38
31434872 2019

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 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2): c.550C> T (p.Arg184Trp) single nucleotide variant Pathogenic 13:20763171-20763171 13:20189032-20189032
2 GJB2 NM_004004.6(GJB2): c.474C> G (p.Tyr158Ter) single nucleotide variant Pathogenic 13:20763247-20763247 13:20189108-20189108
3 GJB2 NM_004004.6(GJB2): c.551G> A (p.Arg184Gln) single nucleotide variant Pathogenic rs80338950 13:20763170-20763170 13:20189031-20189031
4 GJB2 NM_004004.6(GJB2): c.235del (p.Leu79fs) deletion Pathogenic rs80338943 13:20763486-20763486 13:20189347-20189347
5 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 13:20766921-20766921 13:20192782-20192782
6 GJB2 NM_004004.6(GJB2): c.313_326del (p.Lys105fs) deletion Pathogenic rs111033253 13:20763395-20763408 13:20189256-20189269
7 GJB2 NM_004004.6(GJB2): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs111033297 13:20763552-20763552 13:20189413-20189413
8 GJB2 NM_004004.6(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 13:20763573-20763573 13:20189434-20189434
9 GJB2 NM_004004.6(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 13:20763452-20763452 13:20189313-20189313
10 GJB2 NM_004004.6(GJB2): c.196G> C (p.Asp66His) single nucleotide variant Pathogenic rs104894403 13:20763525-20763525 13:20189386-20189386
11 GJB2 NM_004004.6(GJB2): c.167del (p.Leu56fs) deletion Pathogenic rs80338942 13:20763554-20763554 13:20189415-20189415
12 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 13:20763294-20763294 13:20189155-20189155
13 GJB2 NM_004004.6(GJB2): c.355_357GAG[1] (p.Glu120del) short repeat Pathogenic rs80338947 13:20763361-20763363 13:20189222-20189224
14 GJB2 NM_004004.6(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 13:20763582-20763582 13:20189443-20189443
15 GJB2 NM_004004.6(GJB2): c.35del (p.Gly12fs) deletion Pathogenic rs80338939 13:20763686-20763686 13:20189547-20189547
16 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 13:20763650-20763650 13:20189511-20189511
17 GJB2 NM_004004.6(GJB2): c.101T> C (p.Met34Thr) single nucleotide variant Pathogenic rs35887622 13:20763620-20763620 13:20189481-20189481
18 GJB2 NM_004004.6(GJB2): c.370C> T (p.Gln124Ter) single nucleotide variant Pathogenic rs397516874 13:20763351-20763351 13:20189212-20189212
19 GJB2 NM_004004.6(GJB2): c.365A> T (p.Lys122Ile) single nucleotide variant Pathogenic/Likely pathogenic rs111033295 13:20763356-20763356 13:20189217-20189217
20 GJB2 NM_004004.6(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 13:20763305-20763305 13:20189166-20189166
21 GJB2 NM_004004.5(GJB2) indel Pathogenic/Likely pathogenic rs111033335 13:20763121-20763129 13:20188982-20188990
22 GJB2 NM_004004.6(GJB2): c.334_335del (p.Lys112fs) deletion Pathogenic/Likely pathogenic rs756484720 13:20763386-20763387 13:20189247-20189248
23 GJB2 NM_004004.6(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 13:20763170-20763170 13:20189031-20189031
24 GJB2 NM_004004.6(GJB2): c.269dup (p.Val91fs) duplication Pathogenic/Likely pathogenic rs730880338 13:20763452-20763452 13:20189313-20189313
25 GJB2 NM_004004.6(GJB2): c.35dup (p.Val13fs) duplication Pathogenic/Likely pathogenic rs80338939 13:20763686-20763686 13:20189547-20189547
26 GJB2 NM_004004.6(GJB2): c.298C> T (p.His100Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs143343083 13:20763423-20763423 13:20189284-20189284
27 GJB2 NM_004004.6(GJB2): c.223C> G (p.Arg75Gly) single nucleotide variant Likely pathogenic 13:20763498-20763498 13:20189359-20189359
28 GJB2 NM_004004.6(GJB2): c.59T> C (p.Ile20Thr) single nucleotide variant Likely pathogenic rs1057517519 13:20763662-20763662 13:20189523-20189523
29 PRPS1 NM_002764.3(PRPS1): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic rs1556300621 X:106888516-106888516 X:107645286-107645286
30 PRPS1 NM_002764.3(PRPS1): c.641G> C (p.Arg214Pro) single nucleotide variant Likely pathogenic rs867288458 X:106888517-106888517 X:107645287-107645287
31 GJB2 NM_004004.6(GJB2): c.95G> T (p.Arg32Leu) single nucleotide variant Likely pathogenic rs111033190 13:20763626-20763626 13:20189487-20189487
32 GJB2 NM_004004.6(GJB2): c.-23G> T single nucleotide variant Likely pathogenic rs786204734 13:20766922-20766922 13:20192783-20192783
33 MSRB3 NM_198080.4(MSRB3): c.285-1G> A single nucleotide variant Likely pathogenic rs201306709 12:65762777-65762777 12:65368997-65368997
34 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 13:20763687-20763687 13:20189548-20189548
35 DNAJC3 NM_006260.5(DNAJC3): c.580C> T (p.Arg194Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727502865 13:96412327-96412327 13:95760073-95760073
36 GJB2 NM_004004.6(GJB2): c.355G> A (p.Glu119Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs150529554 13:20763366-20763366 13:20189227-20189227
37 GJB2 NM_004004.6(GJB2): c.56G> C (p.Ser19Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80338941 13:20763665-20763665 13:20189526-20189526
38 GJB2 NM_004004.6(GJB2): c.560A> G (p.Glu187Gly) single nucleotide variant Uncertain significance 13:20763161-20763161 13:20189022-20189022
39 GJB2 NM_004004.6(GJB2): c.226C> G (p.Leu76Val) single nucleotide variant Uncertain significance 13:20763495-20763495 13:20189356-20189356
40 SLC26A4 NM_000441.2(SLC26A4): c.2317G> A (p.Glu773Lys) single nucleotide variant Uncertain significance rs764791809 7:107353065-107353065 7:107712620-107712620
41 OTOG NM_001277269.1(OTOG): c.7033G> A (p.Val2345Met) single nucleotide variant Uncertain significance rs188832359 11:17653698-17653698 11:17632151-17632151
42 GJB2 NM_004004.6(GJB2): c.571T> C (p.Phe191Leu) single nucleotide variant Uncertain significance rs397516878 13:20763150-20763150 13:20189011-20189011
43 GJB2 NM_004004.6(GJB2): c.646A> C (p.Arg216=) single nucleotide variant Likely benign 13:20763075-20763075 13:20188936-20188936

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

7
# CNVD ID Chromosom 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...

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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