Details of Disease | DrugMAP

General Information of Disease (ID: DISMIAI3)

Disease Name	Symptomatic form of Coffin-Lowry syndrome in female carriers
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISMIAI3: Symptomatic form of Coffin-Lowry syndrome in female carriers
Disease Identifiers	MONDO ID MONDO_0017193 UMLS CUI C5680787 MedGen ID 1814465 Orphanet ID 276630 SNOMED CT ID 1237577000

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
RPS6KA3	TTUM2ZR	Supportive	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
RPS6KA3	OTYJNNMD	Supportive	Autosomal dominant	[1]
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References

1	RPS6KA3-Related Intellectual Disability. 2002 Jul 16 [updated 2023 Mar 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.