Details of Disease | DrugMAP

General Information of Disease (ID: DISJK2K0)

Disease Name	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Synonyms	meconium ileus; meconium ileus caused by mutation in GUCY2C; GUCY2C meconium ileus; meconium ileus due to guanylate cyclase 2C deficiency
Definition	Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.
Disease Hierarchy	DISOWS20: Meconium ileus DISYKSRF: Genetic disease DISBI73X: Intestinal motility disease DISJK2K0: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Disease Identifiers	MONDO ID MONDO_0013843 UMLS CUI C4518781 MedGen ID 1390359 Orphanet ID 314376 SNOMED CT ID 733447005

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
GUCY2C	TTLDPRG	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GUCY2C	OTHYISW6	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.