KILQS
MCID: KLQ001
MIFTS: 21

Kilquist Syndrome (KILQS)

Categories: Genetic diseases

Aliases & Classifications for Kilquist Syndrome

MalaCards integrated aliases for Kilquist Syndrome:

Name: Kilquist Syndrome 57 6
Kilqs 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
early death (in some patients)
multisystemic disorder
two unrelated families have been reported (last curated november 2020)


HPO:

31
kilquist syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Kilquist Syndrome

OMIM® : 57 Kilquist syndrome (KILQS) is 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 (CF; 219700) (summary by Stodberg et al., 2020). (619080) (Updated 05-Mar-2021)

MalaCards based summary : Kilquist Syndrome, also known as kilqs, is related to branchiootic syndrome 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Kilquist Syndrome is SLC12A2 (Solute Carrier Family 12 Member 2). Affiliated tissues include brain, and related phenotypes are hyperreflexia and mandibular prognathia

Related Diseases for Kilquist Syndrome

Diseases related to Kilquist Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
3 sensorineural hearing loss 10.0

Symptoms & Phenotypes for Kilquist Syndrome

Human phenotypes related to Kilquist Syndrome:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 very rare (1%) HP:0001347
2 mandibular prognathia 31 very rare (1%) HP:0000303
3 pectus carinatum 31 very rare (1%) HP:0000768
4 gastroesophageal reflux 31 very rare (1%) HP:0002020
5 intellectual disability, severe 31 very rare (1%) HP:0010864
6 absent speech 31 very rare (1%) HP:0001344
7 low-set ears 31 very rare (1%) HP:0000369
8 wide mouth 31 very rare (1%) HP:0000154
9 choanal atresia 31 very rare (1%) HP:0000453
10 coxa valga 31 very rare (1%) HP:0002673
11 profound global developmental delay 31 very rare (1%) HP:0012736
12 stenosis of the external auditory canal 31 very rare (1%) HP:0000402
13 feeding difficulties 31 very rare (1%) HP:0011968
14 alacrima 31 very rare (1%) HP:0000522
15 generalized hypotonia 31 very rare (1%) HP:0001290
16 xerostomia 31 very rare (1%) HP:0000217
17 2-3 toe syndactyly 31 very rare (1%) HP:0004691
18 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619
19 hypoplasia of teeth 31 very rare (1%) HP:0000685
20 narrow forehead 31 very rare (1%) HP:0000341
21 chronic constipation 31 very rare (1%) HP:0012450
22 broad chin 31 very rare (1%) HP:0011822
23 midgut malrotation 31 very rare (1%) HP:0005211
24 increased csf albumin concentration 31 very rare (1%) HP:0500239

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
intestinal malrotation
feeding difficulties
tube feeding

Head And Neck Ears:
low-set ears
hearing loss, sensorineural
auditory canal stenosis
absent otoacoustic emissions
vestibular dysplasia

Neurologic Central Nervous System:
poor head control
hypotonia
hypomyelination
white matter abnormalities
lack of speech
more
Head And Neck Mouth:
xerostomia
poor saliva production
thick oral secretions

Head And Neck Face:
prognathism
bitemporal narrowing
dysmorphic features
oblong face
bicoronal narrowing

Head And Neck Head:
small head circumference

Skin Nails Hair Skin:
poor sweating

Chest External Features:
pectus carinatum

Head And Neck Nose:
choanal atresia

Head And Neck Eyes:
alacrima

Respiratory:
central apnea
mucous plugging, recurrent
thick respiratory secretions

Growth Other:
poor overall growth

Head And Neck Teeth:
hypoplastic teeth

Clinical features from OMIM®:

619080 (Updated 05-Mar-2021)

Drugs & Therapeutics for Kilquist Syndrome

Search Clinical Trials , NIH Clinical Center for Kilquist Syndrome

Genetic Tests for Kilquist Syndrome

Anatomical Context for Kilquist Syndrome

MalaCards organs/tissues related to Kilquist Syndrome:

40
Brain

Publications for Kilquist Syndrome

Articles related to Kilquist Syndrome:

# Title Authors PMID Year
1
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2. 6 57 61
30740830 2019
2
SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia. 57 6
32754646 2020
3
Severe impairment of salivation in Na+/K+/2Cl- cotransporter (NKCC1)-deficient mice. 57
10831596 2000
4
Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. 57
10401008 1999
5
Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter. 57
10369265 1999

Variations for Kilquist Syndrome

ClinVar genetic disease variations for Kilquist Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A2 NM_001046.3(SLC12A2):c.1431del (p.Phe477fs) Deletion Pathogenic 984662 5:127474309-127474309 5:128138617-128138617
2 SLC12A2 NM_001046.3(SLC12A2):c.2006-1G>A SNV Pathogenic 984663 5:127485688-127485688 5:128149996-128149996
3 SLC12A2 SLC12A2, 22-KB DEL Deletion Pathogenic 984673
4 SLC12A2 Deletion Pathogenic 617506 5:127441491-127471419

Expression for Kilquist Syndrome

Search GEO for disease gene expression data for Kilquist Syndrome.

Pathways for Kilquist Syndrome

GO Terms for Kilquist Syndrome

Sources for Kilquist Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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