Details of Disease | DrugMAP

General Information of Disease (ID: DISFELD1)

Disease Name	Intellectual developmental disorder with neuropsychiatric features
Synonyms	IDDNPF; intellectual developmental disorder with neuropsychiatric features
Definition	Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}).
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DISFELD1: Intellectual developmental disorder with neuropsychiatric features
Disease Identifiers	MONDO ID MONDO_0044322 UMLS CUI C4479636 OMIM ID 617532 MedGen ID 1379216

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC45A1	DTMSNOU	moderate	Genetic Variation	[1]
SLC45A1	DTMSNOU	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC45A1	OTS4J679	Strong	Autosomal recessive	[2]
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References

1	Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. Am J Hum Genet. 2017 May 4;100(5):824-830.
2	Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016.113. Epub 2016 Jul 19.