Details of Disease | DrugMAP

General Information of Disease (ID: DISACS2P)

Disease Name	Developmental delay with dysmorphic facies and dental anomalies
Synonyms	DEFDA
Disease Hierarchy	DISYKSRF: Genetic disease DISACS2P: Developmental delay with dysmorphic facies and dental anomalies
Disease Identifiers	MONDO ID MONDO_0030988 UMLS CUI C5543197 OMIM ID 619228 MedGen ID 1785587

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
SATB1	TTLFRIC	Strong	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
SATB1	OTT7SUVW	Strong	Autosomal dominant	[1]
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References

1	Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. Am J Hum Genet. 2021 Feb 4;108(2):346-356. doi: 10.1016/j.ajhg.2021.01.007. Epub 2021 Jan 28.