Details of Disease | DrugMAP

General Information of Disease (ID: DISG2IRT)

Disease Name	X-linked intellectual disability-psychosis-macroorchidism syndrome
Synonyms	mental retardation, X-linked 16; intellectual disability, X-linked 16; mental retardation, X-linked 79; intellectual disability psychosis macroorchidism; PPM-X syndrome; intellectual disability, X-linked 79; mental retardation psychosis macroorchidism; mental retardation, X-linked, with spasticity; intellectual disability, X-linked, with spasticity; intellectual deficit, X-linked - psychosis - macroorchidism; intellectual disability, X-linked, syndromic type 13; intellectual disability with psychosis, pyramidal signs, and macroorchidism; PPM-X; Lindsay-Burn syndrome; mental retardation, X-linked, syndromic type 13; mental retardation with psychosis, pyramidal signs, and macroorchidism; X-linked mental retardation 79; intellectual disability, X-linked, syndromic 13; intellectual developmental disorder, X-linked, syndromic 13, X-linked recessive; X-linked intellectual disability with spasticity; X-linked mental retardation with spasticity; X-linked intellectual disability 79; mental retardation, X-linked, syndromic 13; MRXS13
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISG2IRT: X-linked intellectual disability-psychosis-macroorchidism syndrome
Disease Identifiers	MONDO ID MONDO_0010235 MESH ID C563139 UMLS CUI C0796222 OMIM ID 300055 MedGen ID 163232 Orphanet ID 3077 SNOMED CT ID 702356009

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
MECP2	TTTAU9R	Definitive	X-linked recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MECP2	OTREZK68	Definitive	X-linked recessive	[1]
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References

1	Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol. 2003;7(1):5-12. doi: 10.1016/s1090-3798(02)00134-4.