Deafness, dystonia, and cerebral hypomyelination

Preferred Label : Deafness, dystonia, and cerebral hypomyelination;

Symbol : DDCH;

CISMeF acronym : CADDS; DDCH;

Type : Phenotype, molecular basis known;

Included titles and symbols : Contiguous abcd1/dxs1375e deletion syndrome; CADDS;

Description : 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).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the B-cell receptor-associated protein 31 gene (BCAP31, 300398.0001);

Laboratory abnormalities : Abnormal liver enzymes during illness;

Prefixed ID : #300475;

Details

Origin ID

300475;

UMLS CUI

C3806634;

Automatic exact mappings (from CISMeF team)
- BCAP31 wt Allele [NCIt concept]
- CADDS [ORDO Disease]
- Contiguous ABCD1 DXS1357E deletion syndrome (disorder) [SNOMED CT concept]
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH concept]
- Partial deletion of the long arm of chromosome X [ORDO Disease]
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- X chromosome, monosomy Xq28 [MeSH Supplementary Concept]
Genes related to phenotype
- B-cell receptor-associated protein 31 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal pyramidal sign [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Dystonia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Strabismus [HPO term]
- Tetraplegia [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- CADDS [ORDO Disease]
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome [ORDO Disease]
See also inter- (CISMeF)
- Xq28 deletion [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Contiguous ABCD1 DXS1357E deletion syndrome (disorder) [SNOMED CT concept]
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH Supplementary Concept]

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