KEGG   DISEASE: Structural heart defects and renal anomalies syndrome
Entry
H02690                      Disease                                
Name
Structural heart defects and renal anomalies syndrome
Description
Structural heart defects and renal anomalies syndrome (SHDRA) is a severe developmental disorder associated with congenital cardiac malformations and early childhood mortality. It has been reported that mutations in TMEM260 cause this disease. TMEM260 encodes a novel protein-specific O-mannosyltransferase that selectively glycosylates a common protein domain shared among cMET, RON, and plexin receptors.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H02690  Structural heart defects and renal anomalies syndrome
Gene
TMEM260 [HSA:54916] [KO:K27244]
Other DBs
ICD-11: 5C54.Y
OMIM: 617478
Reference
PMID:28318500
  Authors
Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE
  Title
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
  Journal
Am J Hum Genet 100:666-675 (2017)
DOI:10.1016/j.ajhg.2017.02.007
Reference
PMID:37186866
  Authors
Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A
  Title
The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.
  Journal
Proc Natl Acad Sci U S A 120:e2302584120 (2023)
DOI:10.1073/pnas.2302584120
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