KEGG   DISEASE: Deafness, dystonia, and cerebral hypomyelination
Entry
H02287                      Disease                                
Name
Deafness, dystonia, and cerebral hypomyelination
  Subgroup
Contiguous ABCD1/DXS1375E deletion syndrome
CADDS
Description
Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. Mutations in BCAP31, that encodes BAP31, cause this disease. BAP31 is a chaperone protein involved in several pathways, including ER associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02287  Deafness, dystonia, and cerebral hypomyelination
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
BCAP31 [HSA:10134] [KO:K14009]
Other DBs
ICD-11: LD2H.Y
ICD-10: Q87.8
OMIM: 300475
Reference
PMID:24011989
  Authors
Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Levy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L
  Title
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
  Journal
Am J Hum Genet 93:579-86 (2013)
DOI:10.1016/j.ajhg.2013.07.023
Reference
PMID:11992258
  Authors
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ
  Title
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
  Journal
Am J Hum Genet 70:1520-31 (2002)
DOI:10.1086/340849

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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