DDCH
MCID: DFN270
MIFTS: 48

Deafness, Dystonia, and Cerebral Hypomyelination (DDCH)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Deafness, Dystonia, and Cerebral Hypomyelination

MalaCards integrated aliases for Deafness, Dystonia, and Cerebral Hypomyelination:

Name: Deafness, Dystonia, and Cerebral Hypomyelination 56 52 73 36 71
Ddch 56 52 73
Zellweger-Like Contiguous Gene Deletion Syndrome 52 58
Contiguous Abcd1 Dxs1357e Deletion Syndrome 52 58
Contiguous Abcd1/dxs1375e Deletion Syndrome 52 29
Cadds 52 58
Severe Motor and Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome 58
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 58
Deafness, Dystonia, Cerebral Hypomyelination 39
Contiguous Abcd1-Dxs1375e Deletion Syndrome 71
Dystonia 43

Characteristics:

Orphanet epidemiological data:

58
cadds
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
early death may occur

Inheritance:
x-linked recessive


HPO:

31
deafness, dystonia, and cerebral hypomyelination:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare hepatic diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Deafness, Dystonia, and Cerebral Hypomyelination

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 369942 Definition CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia , severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts ), sensorineural deafness, seizures , and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly). Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness, Dystonia, and Cerebral Hypomyelination, also known as ddch, is related to zellweger syndrome and adrenoleukodystrophy, and has symptoms including abnormal pyramidal signs An important gene associated with Deafness, Dystonia, and Cerebral Hypomyelination is BCAP31 (B Cell Receptor Associated Protein 31), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. The drugs Risperidone and Olanzapine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and globus pallidus, and related phenotypes are hearing impairment and abnormal facial shape

OMIM : 56 Deafness, dystonia, and cerebral hypomyelination is an X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging (summary by Cacciagli et al., 2013). (300475)

KEGG : 36 Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.

UniProtKB/Swiss-Prot : 73 Deafness, dystonia, and cerebral hypomyelination: An X-linked recessive mental retardation syndrome characterized by almost no psychomotor development, dysmorphic facial features, sensorineural deafness, dystonia, pyramidal signs, and hypomyelination on brain imaging.

Related Diseases for Deafness, Dystonia, and Cerebral Hypomyelination

Diseases related to Deafness, Dystonia, and Cerebral Hypomyelination via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1074)
# Related Disease Score Top Affiliating Genes
1 zellweger syndrome 29.5 BCAP31 ABCD1
2 adrenoleukodystrophy 28.5 BCAP31 ABCD1
3 dystonia 1, torsion, autosomal dominant 12.9
4 dystonia 3, torsion, x-linked 12.9
5 dystonia, dopa-responsive 12.9
6 dystonia 11, myoclonic 12.9
7 dystonia 12 12.9
8 dystonia 16 12.8
9 dystonia, focal, task-specific 12.8
10 dystonia 6, torsion 12.7
11 cervical dystonia 12.7
12 dystonia 2, torsion, autosomal recessive 12.7
13 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 12.7
14 dystonia 24 12.7
15 dystonia 25 12.7
16 dystonia 23 12.7
17 dystonia 4, torsion, autosomal dominant 12.7
18 leber optic atrophy and dystonia 12.7
19 parkinsonism-dystonia, infantile, 1 12.7
20 dystonia 27 12.6
21 dystonia, juvenile-onset 12.6
22 oromandibular dystonia 12.6
23 gtp cyclohydrolase 1-deficient dopa-responsive dystonia 12.6
24 dystonia 13, torsion, autosomal dominant 12.6
25 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 12.6
26 focal dystonia 12.6
27 dystonia 9 12.6
28 dystonia 21 12.6
29 hypermanganesemia with dystonia 1 12.6
30 hypermanganesemia with dystonia 12.6
31 leukoencephalopathy with dystonia and motor neuropathy 12.6
32 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 12.5
33 hypermanganesemia with dystonia 2 12.5
34 dystonia 26, myoclonic 12.5
35 torsion dystonia 2 12.5
36 early-onset generalized limb-onset dystonia 12.5
37 dystonia 28, childhood-onset 12.5
38 dystonia 7, torsion 12.5
39 torsion dystonia with onset in infancy 12.5
40 leukodystrophy and acquired microcephaly with or without dystonia 12.5
41 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.5
42 spasmodic dystonia 12.4
43 focal hand dystonia 12.4
44 segmental dystonia 12.4
45 cranio-facial dystonia 12.4
46 mohr-tranebjaerg syndrome 12.4
47 torsion dystonia 4 12.4
48 dystonia 15, myoclonic 12.4
49 segawa syndrome, autosomal recessive 12.4
50 multifocal dystonia 12.4

Graphical network of the top 20 diseases related to Deafness, Dystonia, and Cerebral Hypomyelination:



Diseases related to Deafness, Dystonia, and Cerebral Hypomyelination

Symptoms & Phenotypes for Deafness, Dystonia, and Cerebral Hypomyelination

Human phenotypes related to Deafness, Dystonia, and Cerebral Hypomyelination:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
5 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
6 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
7 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
8 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
9 cerebral hypomyelination 58 31 frequent (33%) Frequent (79-30%) HP:0006808
10 strabismus 31 frequent (33%) HP:0000486
11 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120
13 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
14 aggressive behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000718
15 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
16 corpus callosum atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007371
17 seizure 31 occasional (7.5%) HP:0001250
18 global developmental delay 31 HP:0001263
19 sensorineural hearing impairment 31 HP:0000407
20 intellectual disability, severe 31 HP:0010864
21 abnormality of eye movement 58 Occasional (29-5%)
22 dystonia 31 HP:0001332
23 cerebral atrophy 31 HP:0002059
24 brain atrophy 58 Occasional (29-5%)
25 cns hypomyelination 58 Occasional (29-5%)
26 cerebral white matter atrophy 58 Occasional (29-5%)
27 congenital strabismus 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
optic atrophy (in some patients)

Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
abnormal liver enzymes during illness

Growth Other:
failure to thrive

Neurologic Central Nervous System:
dystonia
cerebellar atrophy
cerebral atrophy
hypomyelination
pyramidal signs
more
Head And Neck Face:
facial dysmorphism

Clinical features from OMIM:

300475

UMLS symptoms related to Deafness, Dystonia, and Cerebral Hypomyelination:


abnormal pyramidal signs

Drugs & Therapeutics for Deafness, Dystonia, and Cerebral Hypomyelination

Drugs for Deafness, Dystonia, and Cerebral Hypomyelination (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
2
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
3
Amantadine Approved Phase 4 768-94-5 2130
4
Selegiline Approved, Investigational, Vet_approved Phase 4 14611-51-9 5195 26757
5
Rasagiline Approved Phase 4 136236-51-6 3052776
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Levodopa Approved Phase 4 59-92-7 6047
8
Carbidopa Approved Phase 4 28860-95-9 34359
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
13 incobotulinumtoxinA Phase 4
14 rimabotulinumtoxinB Phase 4
15 Antihypertensive Agents Phase 4
16 Vasodilator Agents Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Gastrointestinal Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Serotonin Uptake Inhibitors Phase 4
21 Psychotropic Drugs Phase 4
22 Antiemetics Phase 4
23 Antipsychotic Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Antiviral Agents Phase 4
26 Adrenergic Antagonists Phase 4
27 Protective Agents Phase 4
28 Antidepressive Agents Phase 4
29 Neuroprotective Agents Phase 4
30 Monoamine Oxidase Inhibitors Phase 4
31 Omega 3 Fatty Acid Phase 4
32 Antiparkinson Agents Phase 4
33 Dopamine Agents Phase 4
34 Carbidopa, levodopa drug combination Phase 4
35 Analgesics, Non-Narcotic Phase 4
36 Analgesics Phase 4
37 Anesthetics Phase 4
38 Anesthetics, General Phase 4
39 Anesthetics, Intravenous Phase 4
40 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
41 Adrenergic Agents Phase 4
42 Adrenergic alpha-Agonists Phase 4
43 Hypnotics and Sedatives Phase 4
44 Adrenergic Agonists Phase 4
45 Dopamine agonists Phase 4
46 Narcotics Phase 4
47 Analgesics, Opioid Phase 4
48 Immunologic Factors Phase 4
49 Adjuvants, Immunologic Phase 4
50 Cholinergic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 379)
# Name Status NCT ID Phase Drugs
1 Randomisierte, Doppelblinde Langzeitstudie Zur Klinischen Wirksamkeit Der Bilateralen Globus Pallidus Internus-Stimulation Bei Idiopathischer Generalisierter Oder Segmentaler Dystonie Unknown status NCT00142259 Phase 4
2 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
3 Dopamine Treatment in Children With Cerebral Palsy With Dystonia- A Double Blind Controlled Study Unknown status NCT01361373 Phase 4 L- DOPA;placebo
4 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin
5 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
6 Phase III Study of Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
7 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
8 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4 Sertindole;Risperidone
9 Pilot Study of the Effect of Botulinum Toxin Type A Treatment on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
10 A Placebo Controlled, Cross-over, Double Blind, Randomized, Clinical Trial to Compare the Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
11 Pre-injection, Multi-channel EMG Mapping to Optimize Botulinum Toxin Type A Efficacy in Cervical Dystonia. Completed NCT00773253 Phase 4 Botulinum toxin A
12 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
13 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
14 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
15 A Double Blind, Randomized, Multi-center, Cross-over Study to Demonstrate the Non-inferiority of Dysport® in Comparison With Botox®, Assuming a Bioequivalence Ratio of 2.5:1 Units, in the Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
16 Prospective, Single-arm, Multicenter Trial to Investigate the Efficacy and Safety of NT 201 and the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Patients With Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
17 An Open-Label, Non-Inferiority Study Evaluating the Efficacy and Safety of Two Injection Schedules of Xeomin® (incobotulinumtoxinA) [Short Flex Versus Long Flex] in Subjects With Cervical Dystonia With < 10 Weeks of Benefit From OnabotulinumtoxinA Treatment Completed NCT01486264 Phase 4
18 A Randomized Controlled Trial Study of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
19 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
20 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
21 Synergistic Effects of Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
22 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
23 Different Dyskinesias in Parkinson's Disease and Their Relation to Levodopa Pharmacokinetics Completed NCT00888186 Phase 4 levodopa/carbidopa
24 Using Propranolol in Traumatic Brain Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Injury to Reduce Sympathetic Storm Phenomenon: A Prospective Randomized Clinical Trial Completed NCT03401515 Phase 4 Propranolol Hydrochloride 1 MG/ML
25 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
26 A Randomized Controlled Trial on Effects of Botulinum Toxin Type A in Adults With Cerebral Palsy Completed NCT00432055 Phase 4 Botulinum toxin type A (Botox);placebo (saline)
27 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
28 Adding Orally Disintegrating Selegiline (Zelapar) to Patients Taking Dopamine Agonists and Experiencing Complications Completed NCT00443872 Phase 4 orally disintegrating selegiline (Zelapar)
29 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
30 A Double-Blind, Randomised, Parallel-Group Comparison of Ethyl-Eicosapentaenoic Acid (Ethyl-EPA) Versus Placebo as Add-on Medication in Patients With Established Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
31 Effects of Rasagiline on Sleep Disturbances in PD: A Single Center, Randomized, Double-blind, Placebo run-in, Polysomnographic Clinical Phase IV Trial Completed NCT01442610 Phase 4 Rasagiline;Placebo
32 Liquid Risperidone in the Treatment of Acute Agitation in Psychiatrically Hospitalized Children Completed NCT00790075 Phase 4 risperidone
33 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
34 Treatment in Advanced Parkinson's Disease: Continuous Intrajejunal Levodopa INfusion VErsus Deep Brain STimulation Recruiting NCT02480803 Phase 4 Continuous intrajejunal infusion of levodopa-carbidopa
35 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
36 Pallidal Stimulation in Patients With Idiopathic Generalised Dystonia Unknown status NCT00169403 Phase 3
37 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
38 Foot Dystonia Treatment by Botulinum Toxin Injections in Parkinson Disease : Efficiency of Injections Made in Extrinsic Muscle (Flexor Digitorum Longus Muscle) Compared to Intrinsic Muscle (Flexor Digitorum Brevis or Quadratus Plantae Muscles) Unknown status NCT00909883 Phase 3 Botulinum Toxin: Xeomin;Placebo
39 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
40 A Phase 3b, Multicentre, Randomised, Double-Blind, Placebo-Controlled Study Evaluating the Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Placebo
41 A Prospective, Randomized, Multi-center, Phase III, Double-blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of MEDITOXIN in Treatment of Cervical Dystonia Completed NCT03232320 Phase 3 Meditoxin;Placebo
42 Open Multicentre Study to Demonstrate the Efficacy and Safety of Botulinum Toxin A (500 Units Dysport®) in the Treatment of Heterogeneous Forms of Cervical Dystonia Completed NCT00447772 Phase 3
43 A Phase III Multicentre, Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy and Safety of Dysport® for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Placebo
44 A Phase IIIb, Prospective, Multicentre, Open-Label Extension Study To Assess Long Term Safety And Effectiveness Of Dysport® Using 2 mL Dilution In Adults With Cervical Dystonia Completed NCT01753336 Phase 3
45 A Prospective, Randomized, Multi-center, Phase III, Double-Blind, Activi Controlled, Parallel-group Study to Evaliate the Efficacy and Safety of MEDITOXIN® Comparison With BOTOX® in Treatment of Cervical Dystonia Completed NCT03905304 Phase 3
46 Phase II/III Study of Deep Brain Stimulation in Patients With Dystonia Completed NCT00004421 Phase 2, Phase 3
47 Prospective,Randomised, Double-blind, Multicenter Study to Assess the Efficacy and Safety of Bilateral Globus Pallidus Internus - in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
48 Comparative Study of the Efficiency of Zonisamide in Myoclonus Dystonia: A Monocentric , Randomized in Cross Over and Double Blind Study Versus Placebo Study Completed NCT01806805 Phase 3 zonegran;placebo
49 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With a Double-blind Parallel-group Extension Period to Investigate the Efficacy and Safety of Different Doses of IncobotulinumtoxinA (Xeomin) in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
50 A Phase III, Prospective, Multicenter, Open-label Extension Study to Assess the Longer Term Safety and Efficacy of Repeated Treatment of Dysport® Intramuscular Injection in the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3

Search NIH Clinical Center for Deafness, Dystonia, and Cerebral Hypomyelination

Cochrane evidence based reviews: dystonia

Genetic Tests for Deafness, Dystonia, and Cerebral Hypomyelination

Genetic tests related to Deafness, Dystonia, and Cerebral Hypomyelination:

# Genetic test Affiliating Genes
1 Contiguous Abcd1/dxs1375e Deletion Syndrome 29

Anatomical Context for Deafness, Dystonia, and Cerebral Hypomyelination

MalaCards organs/tissues related to Deafness, Dystonia, and Cerebral Hypomyelination:

40
Brain, Subthalamic Nucleus, Globus Pallidus, Cortex, Cerebellum, Liver, Spinal Cord

Publications for Deafness, Dystonia, and Cerebral Hypomyelination

Articles related to Deafness, Dystonia, and Cerebral Hypomyelination:

# Title Authors PMID Year
1
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus. 56 6
24011989 2013
2
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. 56
22472424 2012
3
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 56
11992258 2002
4
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. 61
31953925 2020
5
BCAP31-related syndrome: The first de novo report. 61
31330203 2020
6
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. 61
28332767 2017
7
Self reported dental health attitude and behavior of dental students in India. 61
18818461 2008
8
Rat liver endothelial and Kupffer cell-mediated mutagenicity of polycyclic aromatic hydrocarbons and aflatoxin B1. 61
2125561 1990

Variations for Deafness, Dystonia, and Cerebral Hypomyelination

ClinVar genetic disease variations for Deafness, Dystonia, and Cerebral Hypomyelination:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BCAP31 NM_001256447.2(BCAP31):c.341+2T>GSNV Pathogenic 419708 rs1064794057 X:152980995-152980995 X:153715540-153715540
2 BCAP31 NM_001256447.2(BCAP31):c.363_364TC[1] (p.Leu122fs)short repeat Pathogenic 488474 rs1557047954 X:152969525-152969526 X:153704070-153704071
3 ABCD1 , BCAP31 , PLXNB3 GRCh37/hg19 Xq28(chrX:152980470-153032459)copy number loss Pathogenic 625802 X:152980470-153032459
4 BCAP31 NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)SNV Pathogenic 804102 X:152969476-152969476 X:153704021-153704021
5 BCAP31 NM_001256447.2(BCAP31):c.194-2A>GSNV Pathogenic 68444 rs879255569 X:152981146-152981146 X:153715691-153715691
6 BCAP31 NC_000023.11:g.153696346_153701690deldeletion Pathogenic 68445 X:153696346-153701690
7 BCAP31 NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)SNV Pathogenic 68446 rs397515620 X:152986423-152986423 X:153720968-153720968
8 BCAP31 NM_001256447.2(BCAP31):c.-44-270C>ASNV Pathogenic 374401 rs1057518721 X:152989013-152989013 X:153723558-153723558

Expression for Deafness, Dystonia, and Cerebral Hypomyelination

Search GEO for disease gene expression data for Deafness, Dystonia, and Cerebral Hypomyelination.

Pathways for Deafness, Dystonia, and Cerebral Hypomyelination

Pathways related to Deafness, Dystonia, and Cerebral Hypomyelination according to KEGG:

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

GO Terms for Deafness, Dystonia, and Cerebral Hypomyelination

Cellular components related to Deafness, Dystonia, and Cerebral Hypomyelination according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.16 BCAP31 ABCD1
2 endoplasmic reticulum GO:0005783 8.96 BCAP31 ABCD1
3 endoplasmic reticulum membrane GO:0005789 8.62 BCAP31 ABCD1

Sources for Deafness, Dystonia, and Cerebral Hypomyelination

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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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