Details of Disease | DrugMAP

General Information of Disease (ID: DISDGI3M)

Disease Name	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Synonyms	severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract; NECFM; neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Definition	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}).
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DIS80GDF: Monogenic epilepsy DISDGI3M: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
Disease Identifiers	MONDO ID MONDO_0044306 UMLS CUI C4479333 OMIM ID 617393 MedGen ID 1377894 Orphanet ID 500545

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NACC1	TT4AQ5F	Strong	Autosomal dominant	[1]
NACC1	TT4AQ5F	Strong	Genetic Variation	[2]
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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	Strong	Autosomal dominant	[1]
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References

1	Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014 Jul 17;511(7509):344-7. doi: 10.1038/nature13394. Epub 2014 Jun 4.
2	A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.