KEGG   DISEASE: IMAGE-I syndrome
Entry
H02369                      Disease                                

Name
IMAGE-I syndrome
  Supergrp
Immunodeficiency associated with DNA repair defects [DS:H00094]
IMAGE syndrome [DS:H02319]
Description
IMAGE-I syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. It has been reported that mutations in POLE cause IMAGE-I. POLE encodes the catalytic subunit of DNA polymerase epsilon.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02369  IMAGE-I 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
    H02369  IMAGE-I 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: 618336
Reference
  Authors
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP
  Title
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
  Journal
Am J Hum Genet 103:1038-1044 (2018)
DOI:10.1016/j.ajhg.2018.10.024
Reference
  Authors
Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R
  Title
Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
  Journal
Am J Med Genet A 140:1778-84 (2006)
DOI:10.1002/ajmg.a.31365
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