MCID: DFN270
MIFTS: 28

Deafness, Dystonia, and Cerebral Hypomyelination

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Ear 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 57 53 75 73
Ddch 57 53 75
Zellweger-Like Contiguous Gene Deletion Syndrome 53 59
Contiguous Abcd1 Dxs1357e Deletion Syndrome 53 59
Cadds 53 59
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 59
Contiguous Abcd1/dxs1375e Deletion Syndrome 53
Contiguous Abcd1-Dxs1375e Deletion Syndrome 73

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
x-linked recessive

Miscellaneous:
early death may occur


HPO:

32
deafness, dystonia, and cerebral hypomyelination:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Deafness, Dystonia, and Cerebral Hypomyelination

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)

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 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, liver and eye, and related phenotypes are hearing impairment and failure to thrive

UniProtKB/Swiss-Prot : 75 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 9.3 ABCD1 BCAP31
2 peroxisomal biogenesis disorders 9.2 ABCD1 BCAP31
3 adrenoleukodystrophy 9.0 ABCD1 BCAP31

Symptoms & Phenotypes for Deafness, Dystonia, and Cerebral Hypomyelination

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

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

Head And Neck Face:
facial dysmorphism

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 Ears:
sensorineural deafness


Clinical features from OMIM:

300475

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

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 abnormal facial shape 59 32 hallmark (90%) Very frequent (99-80%) HP:0001999
4 abnormal pyramidal signs 59 32 hallmark (90%) Very frequent (99-80%) HP:0007256
5 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
6 congenital strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000487
7 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
8 episodic fever 59 32 frequent (33%) Frequent (79-30%) HP:0001954
9 tetraplegia 59 32 frequent (33%) Frequent (79-30%) HP:0002445
10 cerebral hypomyelination 59 32 frequent (33%) Frequent (79-30%) HP:0006808
11 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
12 aggressive behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0000718
13 hyperactivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000752
14 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
15 cerebral cortical atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002120
16 corpus callosum atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0007371
17 abnormality of eye movement 59 Occasional (29-5%)
18 cns hypomyelination 59 Occasional (29-5%)
19 brain atrophy 59 Occasional (29-5%)
20 cerebral white matter atrophy 59 Occasional (29-5%)
21 sensorineural hearing impairment 32 HP:0000407
22 strabismus 32 HP:0000486
23 seizures 32 occasional (7.5%) HP:0001250
24 global developmental delay 32 HP:0001263
25 dystonia 32 HP:0001332
26 cerebral atrophy 32 HP:0002059
27 intellectual disability, severe 32 HP:0010864

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:

41
Brain, Liver, Eye

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
(show all 11)
# 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 NM_005745.7(BCAP31): c.194-2A> G single nucleotide variant Pathogenic rs879255569 GRCh38 Chromosome X, 153715691: 153715691
3 BCAP31 NC_000023.11: g.153696346_153701690del deletion Pathogenic GRCh38 Chromosome X, 153696346: 153701690
4 BCAP31 NM_005745.7(BCAP31): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515620 GRCh37 Chromosome X, 152986423: 152986423
5 BCAP31 NM_005745.7(BCAP31): c.97C> T (p.Gln33Ter) single nucleotide variant Pathogenic rs397515620 GRCh38 Chromosome X, 153720968: 153720968
6 BCAP31 NM_001139457.2(BCAP31): c.107C> A (p.Ser36Ter) single nucleotide variant Pathogenic rs1057518721 GRCh37 Chromosome X, 152989013: 152989013
7 BCAP31 NM_001139457.2(BCAP31): c.107C> A (p.Ser36Ter) single nucleotide variant Pathogenic rs1057518721 GRCh38 Chromosome X, 153723558: 153723558
8 BCAP31 NM_001139441.1(BCAP31): c.341+2T> G single nucleotide variant Pathogenic rs1064794057 GRCh38 Chromosome X, 153715540: 153715540
9 BCAP31 NM_001139441.1(BCAP31): c.341+2T> G single nucleotide variant Pathogenic rs1064794057 GRCh37 Chromosome X, 152980995: 152980995
10 BCAP31 NM_005745.7(BCAP31): c.365_366delTC (p.Leu122Hisfs) deletion Pathogenic GRCh37 Chromosome X, 152969525: 152969526
11 BCAP31 NM_005745.7(BCAP31): c.365_366delTC (p.Leu122Hisfs) deletion Pathogenic GRCh38 Chromosome X, 153704070: 153704071

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
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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