Deafness, Dystonia, and Cerebral Hypomyelination disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: DFN270 MIFTS: 28	Deafness, Dystonia, and Cerebral Hypomyelination Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Ear diseases, Metabolic diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Rare hepatic diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 300475

Orphanet ⁵⁹ ORPHA369942 ORPHA369939

UMLS via Orphanet ⁷⁴ C1845408

ICD10 via Orphanet ³⁴ Q87.8

MedGen ⁴² C3806634 C1845408

MeSH ⁴⁴ D004421 D006319 D008607

SNOMED-CT via HPO ⁶⁹ 271611007 103276001 15188001 more

UMLS ⁷³ C3806634 C1845408

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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.

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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

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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

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Drugs & Therapeutics for Deafness, Dystonia, and Cerebral Hypomyelination

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

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Genetic Tests for Deafness, Dystonia, and Cerebral Hypomyelination

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Anatomical Context for Deafness, Dystonia, and Cerebral Hypomyelination

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

⁴¹

Brain, Liver, Eye

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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 )	Iwasa M....Shimozawa N.	2013

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Genes for Deafness, Dystonia, and Cerebral Hypomyelination

Genes related to Deafness, Dystonia, and Cerebral Hypomyelination (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BCAP31	B Cell Receptor Associated Protein 31	Protein Coding	1293.35	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Role in the phenotype ⁵⁹ GeneCards inferred via : Disorders (show sections)
2	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	25	Role in the phenotype ⁵⁹

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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

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Expression for Deafness, Dystonia, and Cerebral Hypomyelination

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

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Pathways for Deafness, Dystonia, and Cerebral Hypomyelination

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GO Terms for Deafness, Dystonia, and Cerebral Hypomyelination

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Sources for Deafness, Dystonia, and Cerebral Hypomyelination

¹ BioSystems

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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⁵⁵ Novoseek

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⁵⁷ OMIM

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia