MCID: ATX031
MIFTS: 45

Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Endocrine diseases, Fetal 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 75 29 6 40 73
Hearing Loss 44 40
Acphd 57 75
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:



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

UniProtKB/Swiss-Prot : 75 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 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 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). Affiliated tissues include bone, testes and brain, and related phenotypes are diabetes mellitus and cerebellar atrophy

Description 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 1198)
# Related Disease Score Top Affiliating Genes
1 sensorineural hearing loss 12.7
2 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 12.5
3 camptodactyly, tall stature, and hearing loss syndrome 12.4
4 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 12.4
5 peripheral neuropathy, myopathy, hoarseness, and hearing loss 12.4
6 age-related hearing loss 12.4
7 hearing loss, noise-induced 12.4
8 sudden sensorineural hearing loss 12.4
9 cone-rod dystrophy and hearing loss 12.4
10 cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss 12.4
11 congenital cataracts, hearing loss, and neurodegeneration 12.3
12 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.3
13 epilepsy, hearing loss, and mental retardation syndrome 12.3
14 cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss 12.3
15 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 12.3
16 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 12.3
17 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.2
18 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 12.2
19 hearing loss, cisplatin-induced 12.2
20 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive 12.2
21 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 12.2
22 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.2
23 dfna2 nonsyndromic hearing loss 12.2
24 hereditary hearing loss and deafness 12.2
25 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.1
26 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.1
27 microcephaly, growth retardation, cataract, hearing loss, and unusual appearance 12.1
28 dfnx1 nonsyndromic hearing loss and deafness 12.1
29 nonsyndromic hearing loss and deafness, dfna3 12.1
30 nonsyndromic hearing loss and deafness, dfnb1 12.1
31 nonsyndromic hearing loss and deafness, mitochondrial 12.1
32 cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss 12.1
33 congenital ectodermal dysplasia with hearing loss 12.1
34 cutaneous mastocytosis, conductive hearing loss and microtia 12.0
35 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features 12.0
36 epiphyseal dysplasia hearing loss dysmorphism 12.0
37 maternally-inherited cardiomyopathy and hearing loss 12.0
38 congenital hereditary facial paralysis-variable hearing loss syndrome 12.0
39 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.0
40 nonsyndromic deafness 12.0
41 optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant 12.0
42 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth 12.0
43 facial dysmorphism, cleft palate, hearing loss, and camptodactyly 12.0
44 neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia 12.0
45 nonsyndromic hereditary sensorineural hearing loss 12.0
46 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 12.0
47 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 12.0
48 cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 12.0
49 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 12.0
50 sensorineural hearing loss-early graying-essential tremor syndrome 12.0

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...

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

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

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

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...

Search Clinical Trials , 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, Spinal Cord, Endothelial, T Cells, Heart

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 2581)
# Title Authors Year
1
Prognostic factors regarding the hearing outcome in severe to profound sudden sensorineural hearing loss treated by tympanotomy and sealing of labyrinthine windows after ineffective systemic corticosteroid application. ( 29855690 )
2018
2
Disruptive Hearing Technologies and Mild Sensorineural Hearing Loss II: Current Research on Affordable Hearing Technologies and Direct-to-Consumer Models. ( 29915452 )
2018
3
Risk factors of sensorineural hearing loss in patients with unilateral safe chronic suppurative otitis media. ( 29331307 )
2018
4
Functional Change in the Caudal Pontine Reticular Nucleus Induced by Age-Related Hearing Loss. ( 29853848 )
2018
5
Association of Sudden Sensorineural Hearing Loss With Risk of Cardiocerebrovascular Disease: A Study Using Data From the Korea National Health Insurance Service. ( 29270613 )
2018
6
Which Patients With Asymmetric Sensorineural Hearing Loss Should Undergo Imaging? ( 29392735 )
2018
7
Mobile Hearing Testing Applications and the Diagnosis of Sudden Sensorineural Hearing Loss: A Cautionary Tale. ( 29227445 )
2018
8
Hypertrophic Pachymeningitis of the Internal Auditory Canal: A Rare Case of Unilateral Sudden Sensorineural Hearing Loss. ( 29938521 )
2018
9
Assessment of Spontaneous Recovery Rates in Patients With Idiopathic Sudden Sensorineural Hearing Loss. ( 29931029 )
2018
10
Comparison of intratympanic dexamethasone therapy and hyperbaric oxygen therapy for the salvage treatment of refractory high-frequency sudden sensorineural hearing loss. ( 29891394 )
2018
11
A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss. ( 29287879 )
2018
12
Bony cochlear nerve canal stenosis in pediatric unilateral sensorineural hearing loss. ( 29447896 )
2018
13
Efficacy of systemic and intratympanic corticosteroid combination therapy versus intratympanic or systemic therapy in patients with idiopathic sudden sensorineural hearing loss: a randomized controlled trial. ( 29149379 )
2018
14
Utilization of diagnostic testing for pediatric sensorineural hearing loss. ( 29958610 )
2018
15
Quantitative study of the correlation between cerebellar retraction factors and hearing loss following microvascular decompression for hemifacial spasm. ( 29075904 )
2018
16
Oral and intratympanic steroid therapy for idiopathic sudden sensorineural hearing loss. ( 29721537 )
2018
17
Mechanisms of Hearing Loss in a Guinea Pig Model of Superior Semicircular Canal Dehiscence. ( 29853836 )
2018
18
Acute streptococcal meningitis presenting as bilateral conductive hearing loss. ( 29655501 )
2018
19
Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family. ( 29151245 )
2018
20
Audio-visual speech processing in age-related hearing loss: Stronger integration and increased frontal lobe recruitment. ( 29655940 )
2018
21
Neonates with congenital Cytomegalovirus and hearing loss identified via the universal newborn hearing screening program. ( 29571077 )
2018
22
Compensated Vestibular Dysfunction Post Cochlear Implantation in Children with Sensorineural Hearing Loss: A Prospective Study. ( 29977841 )
2018
23
The role of explorative tympanotomy in patients with sudden sensorineural hearing loss with and without perilymphatic fistula. ( 29055686 )
2018
24
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling. ( 29447883 )
2018
25
Fever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome. ( 29703835 )
2018
26
Serum uric acid and prevalence of age-related hearing loss in the Japanese population: Baseline data from the Aidai Cohort Study in Yawatahama. ( 29339204 )
2018
27
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct. ( 29501320 )
2018
28
Loss of IDH2 Accelerates Age-related Hearing Loss in Male Mice. ( 29567975 )
2018
29
A protocol for a network meta-analysis of interventions to treat patients with sudden sensorineural hearing loss. ( 29769117 )
2018
30
Age-related hearing loss: Unraveling the pieces. ( 29721536 )
2018
31
Delayed Recovery in Pediatric Sudden Sensorineural Hearing Loss Predicted via Magnetic Resonance Imaging. ( 29717656 )
2018
32
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. ( 29725052 )
2018
33
Age-Related Hearing Loss and Its Association with Depression in Later Life. ( 29752060 )
2018
34
Hearing loss in PHACE syndrome: clinical and radiologic findings. ( 29748705 )
2018
35
Hearing Loss in Type 2 Diabetes in Association with Diabetic Neuropathy. ( 29433858 )
2018
36
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. ( 29440549 )
2018
37
A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening. ( 29513124 )
2018
38
Clival meningocele causing bilateral hearing loss in a child due to superficial siderosis of the central nervous system: case report. ( 29451456 )
2018
39
Unilateral Sensorineural Hearing Loss Presenting With Bilateral Temporal Bone Lesions. ( 29342040 )
2018
40
Incidence of intraoperative hearing loss during middle cranial fossa approach for repair of superior semicircular canal dehiscence. ( 29908720 )
2018
41
Inpatient treatment of patients with idiopathic sudden sensorineural hearing loss: a population-based healthcare research study. ( 29330597 )
2018
42
Association of Vertigo With Hearing Outcomes in Patients With Sudden Sensorineural Hearing Loss: A Systematic Review and Meta-analysis. ( 29931169 )
2018
43
Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India. ( 29921236 )
2018
44
Azithromycin and Sensorineural Hearing Loss in Adults: A Retrospective Cohort Study. ( 29965935 )
2018
45
Idiopathic Sudden Sensorineural Hearing Loss Is Not a Sentinel Event for Acute Myocardial Infarction. ( 29912831 )
2018
46
Mutations in L-type amino acid transporter-2 support<i>SLC7A8</i>as a novel gene involved in age-related hearing loss. ( 29355479 )
2018
47
Longitudinal hearing loss in Wolfram syndrome. ( 29945639 )
2018
48
Prognostic role of haematological indices in sudden sensorineural hearing loss: Review and meta-analysis. ( 29684383 )
2018
49
Can A Sudden Sensorineural Hearing Loss Occur Due to Miliary Tuberculosis? ( 29036759 )
2018
50
Comparison of 2 and 4 Intratympanic Steroid Injections in the Treatment of Idiopathic Sudden Sensorineural Hearing Loss. ( 29411622 )
2018

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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJC3 NM_006260.4(DNAJC3): c.580C> T (p.Arg194Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727502865 GRCh37 Chromosome 13, 96412327: 96412327
2 DNAJC3 NM_006260.4(DNAJC3): c.580C> T (p.Arg194Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs727502865 GRCh38 Chromosome 13, 95760073: 95760073
3 SLC26A4 NM_000441.1(SLC26A4): c.2317G> A (p.Glu773Lys) single nucleotide variant Uncertain significance rs764791809 GRCh37 Chromosome 7, 107353065: 107353065
4 SLC26A4 NM_000441.1(SLC26A4): c.2317G> A (p.Glu773Lys) single nucleotide variant Uncertain significance rs764791809 GRCh38 Chromosome 7, 107712620: 107712620
5 OTOG NM_001277269.1(OTOG): c.7033G> A (p.Val2345Met) single nucleotide variant Uncertain significance rs188832359 GRCh38 Chromosome 11, 17632151: 17632151
6 OTOG NM_001277269.1(OTOG): c.7033G> A (p.Val2345Met) single nucleotide variant Uncertain significance rs188832359 GRCh37 Chromosome 11, 17653698: 17653698
7 MSRB3 NM_001193460.1(MSRB3): c.264-1G> A single nucleotide variant Likely pathogenic rs201306709 GRCh37 Chromosome 12, 65762777: 65762777
8 MSRB3 NM_001193460.1(MSRB3): c.264-1G> A single nucleotide variant Likely pathogenic rs201306709 GRCh38 Chromosome 12, 65368997: 65368997
9 PRPS1 NM_002764.3(PRPS1): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 106888516: 106888516
10 PRPS1 NM_002764.3(PRPS1): c.640C> T (p.Arg214Trp) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 107645286: 107645286
11 PRPS1 NM_002764.3(PRPS1): c.641G> C (p.Arg214Pro) single nucleotide variant Likely pathogenic rs867288458 GRCh37 Chromosome X, 106888517: 106888517
12 PRPS1 NM_002764.3(PRPS1): c.641G> C (p.Arg214Pro) single nucleotide variant Likely pathogenic rs867288458 GRCh38 Chromosome X, 107645287: 107645287

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 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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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