Details of Disease | DrugMAP

General Information of Disease (ID: DIS2A1HB)

Disease Name	Congenital short bowel syndrome
Synonyms	CSBS; congenital short bowel syndrome
Definition	Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISF979Y: Small intestine disorder DIS2A1HB: Congenital short bowel syndrome
Disease Identifiers	MONDO ID MONDO_0014097 UMLS CUI C5441717 OMIM ID 615237 MedGen ID 1784105 Orphanet ID 2301 SNOMED CT ID 715201005

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
FLNA	TTSTRZY	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLMP	OTU7C3GQ	Supportive	Autosomal recessive	[2]
FLNA	OTYZ9JXM	Supportive	Autosomal recessive	[1]
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References

1	Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations. Genet Med. 2013 Apr;15(4):310-3. doi: 10.1038/gim.2012.123. Epub 2012 Oct 4.
2	CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. Gastroenterology. 2012 Mar;142(3):453-462.e3. doi: 10.1053/j.gastro.2011.11.038. Epub 2011 Dec 7.