Deafness, Dystonia, and Cerebral Hypomyelination (DDCH)

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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 343087000 95828007 60700002 128602000 22066006 76976005 248004009 61372001 44548000 128613002 246545002 313307000 84757009 91175000 224958001 95646004 36440009 432788009 199612005 22033007 77957000 248200007 32003007 398206004 398302004 278849000 418143002 52522001 11538006 14648003 253142006 40700009 more UMLS 73 C3806634 C1845408

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 369942Disease definitionCADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).Visit the Orphanet disease page for more resources.

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 failure to thrive and tetraplegia

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)

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.

Clinical features from OMIM:

300475

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

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