MCID: DFN270
MIFTS: 25

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 54 50 71 69
Ddch 50 24 71
Zellweger-Like Contiguous Gene Deletion Syndrome 50 56
Contiguous Abcd1 Dxs1357e Deletion Syndrome 50 56
Cadds 50 56
Severe Motor and Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome 56
Deafness, Dystonia and Cerebral Hypomyelination 24
Contiguous Abcd1/dxs1375e Deletion Syndrome 50
Contiguous Abcd1-Dxs1375e Deletion Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
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:

54
Miscellaneous:
early death may occur

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Deafness, Dystonia, and Cerebral Hypomyelination

OMIM : 54
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 chronic erosive gastritis and spinocerebellar ataxia, x-linked 1, and has symptoms including failure to thrive, optic atrophy and dystonia. 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:

id Related Disease Score Top Affiliating Genes
1 chronic erosive gastritis 9.5 ABCD1 BCAP31
2 spinocerebellar ataxia, x-linked 1 9.4 ABCD1 BCAP31
3 pfeiffer kapferer syndrome 9.2 ABCD1 BCAP31

Symptoms & Phenotypes for Deafness, Dystonia, and Cerebral Hypomyelination

Symptoms via clinical synopsis from OMIM:

54

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

Neurologic- Central Nervous System:
seizures (in some patients)
dystonia
hypomyelination
cerebral atrophy
pyramidal signs
more
Head And Neck- Head:
microcephaly

Head And Neck- Face:
facial dysmorphism


Clinical features from OMIM:

300475

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 optic atrophy 32 occasional (7.5%) HP:0000648
3 dystonia 32 HP:0001332
4 strabismus 32 HP:0000486
5 intellectual disability, severe 32 HP:0010864
6 cerebral atrophy 32 HP:0002059
7 seizures 32 occasional (7.5%) HP:0001250
8 microcephaly 32 HP:0000252
9 global developmental delay 32 HP:0001263
10 intellectual disability 32 HP:0001249
11 tetraplegia 32 HP:0002445
12 cerebellar atrophy 32 HP:0001272
13 sensorineural hearing impairment 32 HP:0000407
14 abnormal pyramidal signs 32 HP:0007256
15 abnormal facial shape 32 HP:0001999
16 cns hypomyelination 32 HP:0003429
17 cerebral hypomyelination 32 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

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

id Genetic test Affiliating Genes
1 Deafness, Dystonia and Cerebral Hypomyelination 24 BCAP31

Anatomical Context for Deafness, Dystonia, and Cerebral Hypomyelination

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

39
Brain, Liver

Publications for Deafness, Dystonia, and Cerebral Hypomyelination

Variations for Deafness, Dystonia, and Cerebral Hypomyelination

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

6
id 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

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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