KEGG   DISEASE: Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Entry
H03044                      Disease                                
Name
Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Description
Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities (NEDBAC) is a rare, severe prenatal-onset neurodevelopmental syndrome. It has been reported that mutations in SNAPIN cause this syndrome. SNAPIN encodes a SNARE-associated protein, and is a ubiquitously expressed component of the autophagy-lysosomal pathway that catalyzes retrograde axonal transport and synaptic transmission.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H03044  Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06550  Lysosome biogenesis
   H03044  Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities
Network
nt06550 Lysosome biogenesis
Gene
SNAPIN [HSA:23557] [KO:K20002]
Other DBs
ICD-11: LD90.Y
OMIM: 621393
Reference
PMID:40930097
  Authors
Yousaf H, de Koning MA, Khan K, Gilmore KL, Hoffer MJV, Kellaris G, Lanone S, Dagouassat M, Ullah F, Adama van Scheltema PN, Heron D, Capri Y, Kuechler A, Schweiger B, Haak MC, Keren B, Tran Mau Them F, Peeters-Scholte CMPCD, Kaiser FJ, Koopmann TT, Mei H, Yalcin B, Depienne C, Vora NL, Santen GWE, Davis EE
  Title
Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.
  Journal
Am J Hum Genet 112:2402-2421 (2025)
DOI:10.1016/j.ajhg.2025.08.015
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