KEGG   DISEASE: BRENS syndrome
Entry
H02547                      Disease                                
Name
BRENS syndrome
Description
Biliary, renal, neurologic, and skeletal (BRENS) syndrome is a severe ciliopathy disorder that segregates in an autosomal recessive manner. BRENS syndrome is caused by homozygous mutations in TTC26 gene, that encodes a ciliary protein.
Category
Congenital malformation
Brite
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
    H02547  BRENS syndrome
Gene
TTC26 [HSA:79989] [KO:K19685]
Other DBs
ICD-11: LD2F.Y
OMIM: 619534
Reference
PMID:34177428
  Authors
Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M
  Title
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
  Journal
Mol Syndromol 12:133-140 (2021)
DOI:10.1159/000513829
Reference
PMID:24596149
  Authors
Ishikawa H, Ide T, Yagi T, Jiang X, Hirono M, Sasaki H, Yanagisawa H, Wemmer KA, Stainier DY, Qin H, Kamiya R, Marshall WF
  Title
TTC26/DYF13 is an intraflagellar transport protein required for transport of motility-related proteins into flagella.
  Journal
Elife 3:e01566 (2014)
DOI:10.7554/eLife.01566
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