Details of Disease | DrugMAP

General Information of Disease (ID: DISOODTR)

Disease Name	Paganini-Miozzo syndrome
Synonyms	PAGANINI-MIOZZO SYNDROME; MRXSPM; mental retardation, X-Linked, syndromic, Paganini-Miozzo type; Paganini-Miozzo syndrome, X-linked recessive
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISOODTR: Paganini-Miozzo syndrome
Disease Identifiers	MONDO ID MONDO_0026724 UMLS CUI C5193010 OMIM ID 301025 MedGen ID 1683361

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
HS6ST2	TTS6LBM	Limited	X-linked	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HS6ST2	OT8A3H9Y	Limited	X-linked	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.