KEGG   DISEASE: Kilquist syndrome
Entry
H02934                      Disease                                
Name
Kilquist syndrome
Description
Kilquist syndrome (KILQS) is a novel autosomal recessive syndrome characterized by global developmental delay, sensorineural hearing loss, gastrointestinal abnormalities, and absent salivation. It has been reported that loss of function mutations in SLC12A2 cause KILQS. SLC12A2 encodes for sodium, potassium, and chloride transporter in the basolateral membrane of secretory epithelia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02934  Kilquist syndrome
Gene
SLC12A2 [HSA:6558] [KO:K10951]
Other DBs
ICD-11: LD90.Y
OMIM: 619080
Reference
PMID:30740830
  Authors
Macnamara EF, Koehler AE, D'Souza P, Estwick T, Lee P, Vezina G, Fauni H, Braddock SR, Torti E, Holt JM, Sharma P, Malicdan MCV, Tifft CJ
  Title
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
  Journal
Hum Mutat 40:532-538 (2019)
DOI:10.1002/humu.23722
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