KEGG   DISEASE: Neurodevelopmental disorder with microcephaly and structural brain anomalies
Entry
H02857                      Disease                                
Name
Neurodevelopmental disorder with microcephaly and structural brain anomalies
Description
Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) is an autosomal recessive syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features. It has been reported that mutations in DYNC1I2 cause this syndrome. DYNC1I2 encodes a component of the cytoplasmic dynein 1 complex.
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
   H02857  Neurodevelopmental disorder with microcephaly and structural brain anomalies
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H02857  Neurodevelopmental disorder with microcephaly and structural brain anomalies
  nt06541  Cytoskeleton in neurons
   H02857  Neurodevelopmental disorder with microcephaly and structural brain anomalies
Network
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
Gene
DYNC1I2 [HSA:1781] [KO:K10415]
Other DBs
ICD-11: LD90.Y
OMIM: 618492
Reference
PMID:31079899
  Authors
Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE
  Title
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
  Journal
Am J Hum Genet 104:1073-1087 (2019)
DOI:10.1016/j.ajhg.2019.04.002
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