KEGG   DISEASE: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Entry
H02430                      Disease                                
Name
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Description
Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02430  Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
DNAJC3 [HSA:5611] [KO:K09523]
Other DBs
ICD-11: LD2H.Y
ICD-10: G32.8
OMIM: 616192
Reference
PMID:15793246
  Authors
Ladiges WC, Knoblaugh SE, Morton JF, Korth MJ, Sopher BL, Baskin CR, MacAuley A, Goodman AG, LeBoeuf RC, Katze MG
  Title
Pancreatic beta-cell failure and diabetes in mice with a deletion mutation of the endoplasmic reticulum molecular chaperone gene P58IPK.
  Journal
Diabetes 54:1074-81 (2005)
DOI:10.2337/diabetes.54.4.1074
Reference
PMID:25466870
  Authors
Synofzik M, Haack TB, Kopajtich R, Gorza M, Rapaport D, Greiner M, Schonfeld C, Freiberg C, Schorr S, Holl RW, Gonzalez MA, Fritsche A, Fallier-Becker P, Zimmermann R, Strom TM, Meitinger T, Zuchner S, Schule R, Schols L, Prokisch H
  Title
Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
  Journal
Am J Hum Genet 95:689-97 (2014)
DOI:10.1016/j.ajhg.2014.10.013
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