KEGG   DISEASE: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Entry
H02988                      Disease                                
Name
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Description
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (NEDIHSS) is an autosomal recessive disorder characterized by profound global developmental delay, severe intellectual disability, epilepsy, absent or severely delayed speech, varying degrees of spasticity, ventriculomegaly, and intracranial hemorrhage (ICH)/cerebral calcification. NEDIHSS is caused by mutations in the ESAM gene, which encodes an endothelial cell adhesion molecule.
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
   H02988  Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06546  IgSF CAM signaling
   H02988  Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
Pathway
hsa04517  IGSF CAM signaling
Network
nt06546 IgSF CAM signaling
Gene
ESAM [HSA:90952] [KO:K06787]
Other DBs
ICD-11: LD90.Y
OMIM: 620371
Reference
PMID:36996813
  Authors
Lecca M, Pehlivan D, Suner DH, Weiss K, Coste T, Zweier M, Oktay Y, Danial-Farran N, Rosti V, Bonasoni MP, Malara A, Contro G, Zuntini R, Pollazzon M, Pascarella R, Neri A, Fusco C, Marafi D, Mitani T, Posey JE, Bayramoglu SE, Gezdirici A, Hernandez-Rodriguez J, Cladera EA, Miravet E, Roldan-Busto J, Ruiz MA, Bauza CV, Ben-Sira L, Sigaudy S, Begemann A, Unger S, Gungor S, Hiz S, Sonmezler E, Zehavi Y, Jerdev M, Balduini A, Zuffardi O, Horvath R, Lochmuller H, Rauch A, Garavelli L, Tournier-Lasserve E, Spiegel R, Lupski JR, Errichiello E
  Title
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
  Journal
Am J Hum Genet 110:681-690 (2023)
DOI:10.1016/j.ajhg.2023.03.005
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