Details of Disease | DrugMAP

General Information of Disease (ID: DISUJDOX)

Disease Name	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISUJDOX: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Disease Identifiers	MONDO ID MONDO_0018320 UMLS CUI C5190597 MedGen ID 1675765 Orphanet ID 391408 SNOMED CT ID 782755007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PPP1R15B	OTL5RWA8	Supportive	Autosomal recessive	[1]
TRMT10A	OTQ5AKN4	Supportive	Autosomal recessive	[2]
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References

1	A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9.
2	tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31.