Details of Disease | DrugMAP

General Information of Disease (ID: DISQGY0T)

Disease Name	Kilquist syndrome
Synonyms	KILQS
Definition	An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis.
Disease Hierarchy	DISYKSRF: Genetic disease DISQGY0T: Kilquist syndrome
Disease Identifiers	MONDO ID MONDO_0033664 UMLS CUI C5436756 OMIM ID 619080 MedGen ID 1742639

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A2	DTHKL3Q	Strong	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
SLC12A2	OT3ZJ3LH	Strong	Autosomal recessive	[1]
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References

1	Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. Nat Genet. 1999 Jun;22(2):192-5. doi: 10.1038/9713.