Top ▲

Neurodevelopmental disorder with autism

Disease ID:1278
Name:Neurodevelopmental disorder with autism
Associated with:1 target
Database Links
Disease Ontology: DOID:0012759


Role:  Top de novo autism spectrum disorders (ASD) high risk mutations. One of several ASD risk mutations.
Comments:  For an updated list of mutations see Table 3 in Ortner et al. (2020).
References:  1-4
Mutations:  Cav1.3 is associated with 1 mutation. Click here for details


No ligand related data available for Neurodevelopmental disorder with autism


Show »

1. Hofer NT, Tuluc P, Ortner NJ, Nikonishyna YV, Fern├índes-Quintero ML, Liedl KR, Flucher BE, Cox H, Striessnig J. (2020) Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder. Mol Autism, 11 (1): 4. [PMID:31921405]

2. Limpitikul WB, Dick IE, Ben-Johny M, Yue DT. (2016) An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation. Sci Rep, 6: 27235. [PMID:27255217]

3. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD et al.. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485 (7397): 246-50. [PMID:22495309]

4. Ortner NJ, Kaserer T, Copeland JN, Striessnig J. (2020) De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism. Pflugers Arch, 472 (7): 755-773. [PMID:32583268]