DDCH
MCID: DFN270
MIFTS: 41

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 57 12 20 73 36 71
Ddch 57 20 73
Severe Motor and Intellectual Disabilities-Sensorineural Hearing Loss-Dystonia Syndrome 12 58
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 12 58
Zellweger-Like Contiguous Gene Deletion Syndrome 20 58
Contiguous Abcd1 Dxs1357e Deletion Syndrome 20 58
Contiguous Abcd1/dxs1375e Deletion Syndrome 20 29
Cadds 20 58
Deafness, Dystonia, Cerebral Hypomyelination 39
Contiguous Abcd1-Dxs1375e Deletion Syndrome 71

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®:

57 (Updated 05-Mar-2021)
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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 369942DefinitionCADDS 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 adrenoleukodystrophy and zellweger syndrome, 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 Tramadol and Povidone-iodine have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are failure to thrive and abnormal pyramidal sign

Disease Ontology : 12 A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has material basis in heterozygous mutation in BCAP31 on chromosome Xq28.

OMIM® : 57 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) (Updated 05-Mar-2021)

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:

# Related Disease Score Top Affiliating Genes
1 adrenoleukodystrophy 29.9 BCAP31 ABCD1
2 zellweger syndrome 29.7 BCAP31 ABCD1
3 cryptorchidism, unilateral or bilateral 10.3
4 inguinal hernia 10.3
5 cholestasis 10.3
6 adrenomyeloneuropathy 10.3
7 penis agenesis 10.3
8 branchiootic syndrome 1 10.2
9 dystonia 10.2

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 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
3 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
4 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
5 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
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 abnormality of eye movement 58 Occasional (29-5%)
19 global developmental delay 31 HP:0001263
20 sensorineural hearing impairment 31 HP:0000407
21 intellectual disability, severe 31 HP:0010864
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®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive

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

Head And Neck Ears:
sensorineural deafness

Laboratory Abnormalities:
abnormal liver enzymes during illness

Head And Neck Head:
microcephaly

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

Clinical features from OMIM®:

300475 (Updated 05-Mar-2021)

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 all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
2
Povidone-iodine Approved Phase 4 25655-41-8
3
Iodine Approved, Investigational Phase 4 7553-56-2 807
4
Povidone Approved Phase 4 9003-39-8 131751496
5
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
6
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
7
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
8
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
9
Treprostinil Approved, Investigational Phase 4 81846-19-7 54786 6918140
10
Cadexomer iodine Experimental Phase 4 94820-09-4
11 Tezosentan Investigational Phase 4 180384-57-0
12 Narcotics Phase 4
13 Analgesics Phase 4
14 Analgesics, Opioid Phase 4
15 Anesthetics, Local Phase 4
16 Anesthetics Phase 4
17 Antihypertensive Agents Phase 4
18
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 439-14-5 3016
19
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
20
Epirubicin Approved Phase 3 56420-45-2 41867
21
Fluorouracil Approved Phase 3 51-21-8 3385
22 Anesthetics, Intravenous Phase 2, Phase 3
23 Anesthetics, General Phase 2, Phase 3
24 Antibiotics, Antitubercular Phase 3
25 Immunosuppressive Agents Phase 3
26 Immunologic Factors Phase 3
27 Antimetabolites Phase 3
28 Anti-Bacterial Agents Phase 3
29
Morphine Approved, Investigational Phase 2 57-27-2 5288826
30
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
31
Imiquimod Approved, Investigational Phase 2 99011-02-6 57469
32
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
33
Edetic Acid Approved, Vet_approved Phase 1, Phase 2 60-00-4, 62-33-9 6049
34
Pentetic acid Approved Phase 1, Phase 2 67-43-6
35
Vitamin C Approved, Nutraceutical Phase 1, Phase 2 50-81-7 5785 54670067
36 Molgramostim Investigational Phase 2 99283-10-0
37 Vaccines Phase 2
38 Adjuvants, Immunologic Phase 2
39 Antirheumatic Agents Phase 2
40 interferons Phase 2
41 Alkylating Agents Phase 2
42 Pharmaceutical Solutions Phase 1, Phase 2
43 Vitamins Phase 1, Phase 2
44
Docetaxel Approved, Investigational Phase 1 114977-28-5 148124
45
Remifentanil Approved 132875-61-7 60815
46
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
47
Tranexamic Acid Approved 1197-18-8 5526
48
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
49 Pirinitramide

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) in Patients With Stable Pulmonary Arterial Hypertension: Safety, Efficacy and Treatment Satisfaction Completed NCT00373360 Phase 4 treprostinil sodium
2 Comparative Study of Ultrasound-guided Paravertebral Block Versus Intravenous Tramadol for Postoperative Pain Control in Percutaneous Nephrolithotomy Completed NCT02412930 Phase 4 Group Tramadol;Bupivacaine
3 The Relationship Between Local Anesthetic Concentration and Volume on Adequate Labor Analgesia With Programmed Intermittent Epidural Bolus Recruiting NCT03553576 Phase 4 Low volume bolus;High volume bolus
4 Transversus Abdominus Plane (TAP) Block Catheters vs Liposomal Bupivacaine for Pain Control After Colorectal Surgery: A Prospective Randomized Control Trial Recruiting NCT03080142 Phase 4 Exparel;Ropivacaine
5 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) Using the Crono Five Ambulatory Infusion Pump in Patients With Stable Pulmonary Arterial Hypertension (PAH): Safety, Efficacy and Treatment Satisfaction Terminated NCT00439946 Phase 4 treprostinil
6 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) in Patients With Stable Pulmonary Arterial Hypertension in the Outpatient Clinic: Safety, Efficacy and Treatment Satisfaction Terminated NCT00643604 Phase 4 treprostinil sodium
7 The Safety and Efficacy of IVPCA in the Management of Adult Postoperative Craniotomy Pain: A Prospective, Randomized Controlled Trial Completed NCT00286221 Phase 2, Phase 3 PCA fentanyl;PRN fentanyl
8 A Feasibility Study to Evaluate Adjuvant Chemoradiotherapy for Gastric Cancer Completed NCT00123318 Phase 3 epirubicin;cisplatin;5-fluorouracil
9 Cortical Modulation of Acute Post-thoracotomy Pain With Transcranial Direct Current Stimulation Completed NCT03005548 Phase 2 Morphine
10 Randomized Phase II Trial of Cyclophosphamide With Allogeneic Non-Small Cell Lung Cancer (NSCLC) DRibble Vaccine Alone or With Granulocyte-Macrophage Colony-Stimulating Factor or Imiquimod for Adjuvant Treatment of Definitively-Treated Stage IIIA or IIIB NSCLC Completed NCT01909752 Phase 2 Cyclophosphamide;Imiquimod;GM-CSF
11 "Phase II/Pilot Study of 2nd Generation Anti-CEA Esigner T Cells in Adenocarcinomas" Suspended NCT01723306 Phase 2
12 A Phase Ib/IIa Study Evaluating the Safety and Tolerability of Vitamin C in Patients With Intermediate or High Risk Myelodysplastic Syndrome With TET2 Mutations Suspended NCT03433781 Phase 1, Phase 2 50 gm CIVI/24 hours x 5 days every 4 week
13 A Pilot Study of Autologous Tumor DRibble Vaccine With Docetaxel in Stage IIIB and IV Non-Small Cell Lung Cancer Completed NCT00850785 Phase 1
14 Programmed Intermittent Epidural Bolus for Labor Analgesia During First Stage of Labor: a RCT Comparing 125 mL/h Versus 250 mL/h Bolus Delivery Flow Completed NCT03236298
15 Outcome After Total Knee Arthroplasty Under General or Spinal Anesthesia, a Randomized Controlled Trial Completed NCT03364088 Oxycodone by patient-controlled analgesia (PCA)
16 Serratus Anterior Plane Block Versus Standard of Care After Totally Endoscopic Aortic Valve Replacement: a Double-blinded Randomized Controlled Trial. Recruiting NCT04699422 PCIA with Piritramide
17 Programmed Intermittent Bolus for Infusion of Local Anesthetic During Continuous Interscalene Nerve Blockade for Total Shoulder Arthroplasty: a Randomized Controlled Trial Not yet recruiting NCT03268837

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

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
Liver, Eye, Brain, T Cells, Endothelial

Publications for Deafness, Dystonia, and Cerebral Hypomyelination

Articles related to Deafness, Dystonia, and Cerebral Hypomyelination:

(show all 11)
# 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. 6 57
24011989 2013
2
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness. 57
22472424 2012
3
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. 57
11992258 2002
4
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. 61
33603160 2021
5
Schimke XLID syndrome results from a deletion in BCAP31. 61
32681719 2020
6
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome. 61
32652807 2020
7
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation. 61
31953925 2020
8
BCAP31-related syndrome: The first de novo report. 61
31330203 2020
9
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy. 61
28332767 2017
10
Self reported dental health attitude and behavior of dental students in India. 61
18818461 2008
11
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.194-2A>G SNV Pathogenic 68444 rs879255569 X:152981146-152981146 X:153715691-153715691
2 BCAP31 NC_000023.11:g.153696346_153701690del Deletion Pathogenic 68445 X:153696346-153701690
3 BCAP31 NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter) SNV Pathogenic 804102 rs1603223001 X:152969476-152969476 X:153704021-153704021
4 BCAP31 NM_001256447.2(BCAP31):c.363_364TC[1] (p.Leu122fs) Microsatellite Pathogenic 488474 rs1557047954 X:152969525-152969526 X:153704070-153704071
5 ABCD1 GRCh37/hg19 Xq28(chrX:152980470-153032459) copy number loss Pathogenic 625802 X:152980470-153032459
6 BCAP31 NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter) SNV Pathogenic 68446 rs397515620 X:152986423-152986423 X:153720968-153720968
7 BCAP31 NM_001256447.2(BCAP31):c.-44-270C>A SNV Pathogenic 374401 rs1057518721 X:152989013-152989013 X:153723558-153723558
8 BCAP31 NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val) SNV Uncertain significance 976022 X:152981021-152981021 X:153715566-153715566
9 BCAP31 NM_001256447.2(BCAP31):c.341+2T>G SNV not provided 419708 rs1064794057 X:152980995-152980995 X:153715540-153715540

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 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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