Details of Disease | DrugMAP

General Information of Disease (ID: DIS29AHP)

Disease Name	Microcephaly, short stature, and impaired glucose metabolism 2
Synonyms	MSSGM2; microcephaly, short stature, and impaired glucose metabolism type 2; PPP1R15B microcephaly, short stature, and impaired glucose metabolism; microcephaly, short stature, and impaired glucose metabolism 2; microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2; microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B
Definition	Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene.
Disease Hierarchy	DISGZKJX: Microcephaly, short stature, and impaired glucose metabolism DIS29AHP: Microcephaly, short stature, and impaired glucose metabolism 2
Disease Identifiers	MONDO ID MONDO_0014785 UMLS CUI C4225195 OMIM ID 616817 MedGen ID 906140

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
PPP1R15B	OTL5RWA8	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.