Details of Disease | DrugMAP

General Information of Disease (ID: DISWC0HQ)

Disease Name	Intellectual developmental disorder and retinitis pigmentosa; IDDRP
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA; IDDRP
Disease Hierarchy	DISD715V: Hereditary neurological disease DISMBNXP: Intellectual disability DISWC0HQ: Intellectual developmental disorder and retinitis pigmentosa; IDDRP
Disease Identifiers	MONDO ID MONDO_0032594 UMLS CUI C4748658 OMIM ID 618195 MedGen ID 1648358

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SCAPER	OT7S3B3P	Strong	Autosomal recessive	[1]
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References

1	Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. J Med Genet. 2017 Sep 18;54(10):698-704. doi: 10.1136/jmedgenet-2017-104632. Epub 2017 Aug 9.