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Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome(ACPHD)

MedGen UID:
863873
Concept ID:
C4015436
Disease or Syndrome
Synonym: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
SNOMED CT: Juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome (1255271005); Combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome (1255271005); Combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome (1255271005)
Modes of inheritance:
 
DNAJC3 (13q32.1)
 
Monarch Initiative: MONDO:0014523
OMIM®: 616192
Orphanet: ORPHA445062

Definition

Combined cerebellar and peripheral ataxia with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive multisystem disorder including defects in glucose metabolism, diffuse neurodegeneration, multiple hormone deficiencies, severe growth retardation with possible growth hormone deficiencies, and subtle osseous changes suggesting early-onset bone dysplasia (summary by Ozon et al., 2020). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVJuvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Recent clinical studies

Etiology

Alfaro R, Nicanor-Carreón JG, Doty T, Lugar H, Hershey T, Pepino MY
Chem Senses 2023 Jan 1;48 doi: 10.1093/chemse/bjad004. PMID: 36798000Free PMC Article
Giannakopoulou C, Korakaki E, Hatzidaki E, Manoura A, Aligizakis A, Velivasakis E
Pediatrics 2002 Apr;109(4):e66. doi: 10.1542/peds.109.4.e66. PMID: 11927739

Diagnosis

Alfaro R, Nicanor-Carreón JG, Doty T, Lugar H, Hershey T, Pepino MY
Chem Senses 2023 Jan 1;48 doi: 10.1093/chemse/bjad004. PMID: 36798000Free PMC Article
Rouanet-Larriviere M, Vital C, Arne P, Favarel-Garrigues JC, Gin H, Vital A
J Peripher Nerv Syst 2000 Mar;5(1):27-31. doi: 10.1046/j.1529-8027.2000.00122.x. PMID: 10780681
Barrett TG, Bundey SE, Fielder AR, Good PA
Eye (Lond) 1997;11 ( Pt 6):882-8. doi: 10.1038/eye.1997.226. PMID: 9537152

Therapy

Giannakopoulou C, Korakaki E, Hatzidaki E, Manoura A, Aligizakis A, Velivasakis E
Pediatrics 2002 Apr;109(4):e66. doi: 10.1542/peds.109.4.e66. PMID: 11927739

Prognosis

Watkins PJ, Gayle C, Alsanjari N, Scaravilli F, Zanone M, Thomas PK
QJM 1995 Nov;88(11):795-804. PMID: 8542264

Clinical prediction guides

Alfaro R, Nicanor-Carreón JG, Doty T, Lugar H, Hershey T, Pepino MY
Chem Senses 2023 Jan 1;48 doi: 10.1093/chemse/bjad004. PMID: 36798000Free PMC Article
Giannakopoulou C, Korakaki E, Hatzidaki E, Manoura A, Aligizakis A, Velivasakis E
Pediatrics 2002 Apr;109(4):e66. doi: 10.1542/peds.109.4.e66. PMID: 11927739
Rouanet-Larriviere M, Vital C, Arne P, Favarel-Garrigues JC, Gin H, Vital A
J Peripher Nerv Syst 2000 Mar;5(1):27-31. doi: 10.1046/j.1529-8027.2000.00122.x. PMID: 10780681
Watkins PJ, Gayle C, Alsanjari N, Scaravilli F, Zanone M, Thomas PK
QJM 1995 Nov;88(11):795-804. PMID: 8542264

Supplemental Content

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