Details of Disease | DrugMAP

General Information of Disease (ID: DIS50A4M)

Disease Name	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS50A4M: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Disease Identifiers	MONDO ID MONDO_0018573 UMLS CUI C5681180 MedGen ID 1801791 Orphanet ID 436144 SNOMED CT ID 1197592001

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
CDKN1C	TTBSUAR	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
CDKN1C	OTASTJ3Q	Supportive	Autosomal dominant	[1]
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References

1	A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. J Clin Endocrinol Metab. 2014 Oct;99(10):E2117-22. doi: 10.1210/jc.2014-1949. Epub 2014 Jul 24.