General Information of Disease (ID: DISD1B3A)

Disease Name NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
Synonyms NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
Definition
A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.
Disease Hierarchy
DISMBNXP: Intellectual disability
DISYOKTG: Mendelian neurodevelopmental disorder
DISB9AFI: Complex neurodevelopmental disorder
DISD1B3A: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NACC1 TT4AQ5F Definitive Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NACC1 OT4DIMD0 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.