KEGG   DISEASE: FILS syndrome
Entry
H02370                      Disease                                

Name
FILS syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
Description
FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02370  FILS syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02370  FILS syndrome
Pathway
hsa03030 DNA replication   
hsa03410 Base excision repair   
hsa03420 Nucleotide excision repair   
Gene
POLE [HSA:5426] [KO:K02324]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.1
OMIM: 615139
Reference
  Authors
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G
  Title
Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
  Journal
J Exp Med 209:2323-30 (2012)
DOI:10.1084/jem.20121303
Reference
  Authors
Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
  Title
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
  Journal
BMC Med Genet 16:31 (2015)
DOI:10.1186/s12881-015-0177-y
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