KEGG   DISEASE: Brain malformations with urinary tract defects
Entry
H02471                      Disease                                
Name
Brain malformations with urinary tract defects
  Subgroup
Chromosome 1p32-p31 deletion syndrome
Description
Brain malformations with urinary tract defects (BRMUTD) is a novel human syndrome associated with 1p32-p31 deletion involving the NFIA gene. NFIA encodes a member of the NFI family of transcription factors.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD44  Deletions of the autosomes
    H02471  Brain malformations with urinary tract defects
Gene
NFIA [HSA:4774] [KO:K09168]
Other DBs
ICD-11: LD44.11
MeSH: C535594
OMIM: 613735
Reference
PMID:17530927
  Authors
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL
  Title
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
  Journal
PLoS Genet 3:e80 (2007)
DOI:10.1371/journal.pgen.0030080
Reference
PMID:24657733
  Authors
Ji J, Salamon N, Quintero-Rivera F
  Title
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
  Journal
Eur J Med Genet 57:267-8 (2014)
DOI:10.1016/j.ejmg.2014.03.004
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