MCID: DFN270
MIFTS: 26

Deafness, Dystonia, and Cerebral Hypomyelination

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

Aliases & Classifications for Deafness, Dystonia, and Cerebral Hypomyelination

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

Name: Deafness, Dystonia, and Cerebral Hypomyelination 53 49 71 69
Ddch 53 49 71
Zellweger-Like Contiguous Gene Deletion Syndrome 49 55
Contiguous Abcd1 Dxs1357e Deletion Syndrome 49 55
Cadds 49 55
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 55
Contiguous Abcd1/dxs1375e Deletion Syndrome 49
Contiguous Abcd1-Dxs1375e Deletion Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
x-linked recessive

Miscellaneous:
early death may occur


HPO:

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


Classifications:



Summaries for Deafness, Dystonia, and Cerebral Hypomyelination

OMIM : 53 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)

MalaCards based summary : Deafness, Dystonia, and Cerebral Hypomyelination, also known as ddch, is related to chromosome xq28 deletion syndrome and peroxisomal biogenesis disorders, and has symptoms including seizures, dystonia and abnormal pyramidal signs. An important gene associated with Deafness, Dystonia, and Cerebral Hypomyelination is BCAP31 (B Cell Receptor Associated Protein 31). Affiliated tissues include brain and liver.

UniProtKB/Swiss-Prot : 71 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 chromosome xq28 deletion syndrome 9.6 ABCD1 BCAP31
2 peroxisomal biogenesis disorders 9.5 ABCD1 BCAP31
3 adrenoleukodystrophy 9.4 ABCD1 BCAP31

Symptoms & Phenotypes for Deafness, Dystonia, and Cerebral Hypomyelination

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
dystonia
cerebellar atrophy
cerebral atrophy
hypomyelination
pyramidal signs
more
Head And Neck Head:
microcephaly

Head And Neck Face:
facial dysmorphism

Laboratory Abnormalities:
abnormal liver enzymes during illness

Growth Other:
failure to thrive

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

Head And Neck Ears:
sensorineural deafness


Clinical features from OMIM:

300475

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 dystonia 31 HP:0001332
3 abnormal pyramidal signs 31 HP:0007256
4 intellectual disability 31 HP:0001249
5 failure to thrive 31 HP:0001508
6 tetraplegia 31 HP:0002445
7 global developmental delay 31 HP:0001263
8 abnormal facial shape 31 HP:0001999
9 microcephaly 31 HP:0000252
10 sensorineural hearing impairment 31 HP:0000407
11 optic atrophy 31 occasional (7.5%) HP:0000648
12 intellectual disability, severe 31 HP:0010864
13 strabismus 31 HP:0000486
14 cerebellar atrophy 31 HP:0001272
15 cerebral atrophy 31 HP:0002059
16 cns hypomyelination 31 HP:0003429
17 cerebral hypomyelination 31 HP:0006808

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


abnormal pyramidal signs

Drugs & Therapeutics for Deafness, Dystonia, and Cerebral Hypomyelination

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

Genetic Tests for Deafness, Dystonia, and Cerebral Hypomyelination

Anatomical Context for Deafness, Dystonia, and Cerebral Hypomyelination

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

38
Brain, Liver

Publications for Deafness, Dystonia, and Cerebral Hypomyelination

Articles related to Deafness, Dystonia, and Cerebral Hypomyelination:

# Title Authors Year
1
Contiguous ABCD1 DXS1357E deletion syndrome: report of an autopsy case. ( 22994209 )
2013

Variations for Deafness, Dystonia, and Cerebral Hypomyelination

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCAP31 NM_005745.7(BCAP31): c.194-2A> G single nucleotide variant Pathogenic rs879255569 GRCh37 Chromosome X, 152981146: 152981146
2 BCAP31 NC_000023.11: g.153696346_153701690del deletion Pathogenic GRCh38 Chromosome X, 153696346: 153701690
3 BCAP31 NM_005745.7(BCAP31): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515620 GRCh37 Chromosome X, 152986423: 152986423
4 BCAP31 NM_001139457.2(BCAP31): c.107C> A (p.Ser36Ter) single nucleotide variant Pathogenic rs1057518721 GRCh37 Chromosome X, 152989013: 152989013
5 BCAP31 NM_001139441.1(BCAP31): c.341+2T> G single nucleotide variant Pathogenic rs1064794057 GRCh37 Chromosome X, 152980995: 152980995

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

GO Terms for Deafness, Dystonia, and Cerebral Hypomyelination

Sources for Deafness, Dystonia, and Cerebral Hypomyelination

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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