Details of Disease | DrugMAP

General Information of Disease (ID: DISKEXF3)

Disease Name	Craniotubular dysplasia, Ikegawa type
Disease Hierarchy	DIS5Z8U6: Skeletal dysplasia DISKEXF3: Craniotubular dysplasia, Ikegawa type
Disease Identifiers	MONDO ID MONDO_0859226 UMLS CUI C5575335 OMIM ID 619727 MedGen ID 1806238

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
TMEM53	OTSXTGQK	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling. Nat Commun. 2021 Apr 6;12(1):2046. doi: 10.1038/s41467-021-22340-8.