KEGG   DISEASE: MDPL syndrome
Entry
H01623                      Disease                                
Name
MDPL syndrome;
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Description
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2Y  Other specified multiple developmental anomalies or syndromes
    H01623  MDPL syndrome
Pathway-based classification of diseases [BR:br08402]
 Replication and repair
  nt06509  DNA replication
   H01623  MDPL syndrome
  nt06504  Base excision repair
   H01623  MDPL syndrome
  nt06506  Double-strand break repair
   H01623  MDPL syndrome
Pathway
hsa03030  DNA replication
hsa03410  Base excision repair
hsa03440  Homologous recombination
Network
nt06504 Base excision repair
nt06506 Double-strand break repair
nt06509 DNA replication
Gene
POLD1 [HSA:5424] [KO:K02327]
Drug
Hydroxocobalamin [DR:D01027]
Other DBs
ICD-11: LD2Y
OMIM: 615381
Reference
PMID:23770608
  Authors
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT
  Title
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
  Journal
Nat Genet 45:947-50 (2013)
DOI:10.1038/ng.2670
Reference
PMID:26350127
  Authors
Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, Angius A, Cucca F, Cottoni F, Crisponi L
  Title
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
  Journal
Metabolism 64:1530-40 (2015)
DOI:10.1016/j.metabol.2015.07.022
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