KEGG   DISEASE: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Entry
H02856                      Disease                                
Name
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Description
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is caused by heterozygous missense mutations in the CACNA1C gene and is characterized by neurodevelopmental abnormalities and epilepsy, in the absence of classic features of Timothy syndrome or Long QT syndrome.
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
   H02856  Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H02856  Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
Gene
CACNA1C [HSA:775] [KO:K04850]
Other DBs
ICD-11: LD90.Y
OMIM: 620029
Reference
PMID:34163037
  Authors
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V
  Title
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
  Journal
Genet Med 23:1922-1932 (2021)
DOI:10.1038/s41436-021-01232-8
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