KTLS
MCID: KTL001
MIFTS: 37

Keutel Syndrome (KTLS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Keutel Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Keutel Syndrome:

Name: Keutel Syndrome 52 48 24 54 70 27 12 50 68
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 54
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 24
 
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 48
Ktls 70

Characteristics:

Orphanet epidemiological data:

54
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
keutel syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 245150
Orphanet54 ORPHA85202
MESH via Orphanet40 C536167
UMLS via Orphanet69 C1855607
ICD10 via Orphanet31 Q87.8
MedGen37 C1855607

Summaries for Keutel Syndrome

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NIH Rare Diseases:48 Keutel syndrome is an inherited condition characterized by cartilage calcification in the ears, nose, larnyx, trachea (voice box), and ribs; pulmonary artery stenoses; brachytelephalangism (short fingers and nails that resemble drumsticks); and facial dysmorphism. less than 30 cases have been reported in the literature. the majority of affected individuals have been diagnosed during childhood. other associated features may include hearing loss, recurrent otitis and/or sinusitis, mild intellectual disability, frequent respiratory infections, nasal speech and rarely, seizures, and short stature. this condition is inherited in an autosomal recessive fashion and is caused by mutations in the mgp gene. last updated: 4/29/2011

MalaCards based summary: Keutel Syndrome, also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome, is related to nasodigitoacoustic syndrome and relapsing polychondritis, and has symptoms including seizures, seizures and Array. An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, bone and skin, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system.

OMIM:52 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

UniProtKB/Swiss-Prot:70 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia:71 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Related Diseases for Keutel Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1nasodigitoacoustic syndrome10.9
2relapsing polychondritis9.8
3cutis laxa9.8
4carnitine deficiency, systemic primary9.8BMP2, MGP
5c1r/c1s deficiency, combined9.5BMP2, GLA, MGP

Graphical network of diseases related to Keutel Syndrome:



Diseases related to keutel syndrome

Symptoms & Phenotypes for Keutel Syndrome

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Symptoms by clinical synopsis from OMIM:

245150

Clinical features from OMIM:

245150

Human phenotypes related to Keutel Syndrome:

 54 64 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long face64 54 Very frequent (99-80%) HP:0000276
2 sloping forehead64 54 Frequent (79-30%) HP:0000340
3 hearing impairment64 54 Frequent (79-30%) HP:0000365
4 recurrent otitis media64 54 Frequent (79-30%) HP:0000403
5 underdeveloped nasal alae64 54 Frequent (79-30%) HP:0000430
6 wide nose64 54 Very frequent (99-80%) HP:0000445
7 optic atrophy64 54 Occasional (29-5%) HP:0000648
8 soft, doughy skin64 54 Occasional (29-5%) HP:0001027
9 seizures64 54 Occasional (29-5%) HP:0001250
10 intellectual disability, mild64 54 Frequent (79-30%) HP:0001256
11 global developmental delay64 54 Frequent (79-30%) HP:0001263
12 alopecia64 54 Occasional (29-5%) HP:0001596
13 ventricular septal defect64 54 Frequent (79-30%) HP:0001629
14 pulmonary hypertension54 Frequent (79-30%)
15 recurrent respiratory infections54 Frequent (79-30%)
16 short stature64 54 Occasional (29-5%) HP:0004322
17 dermal atrophy64 54 Occasional (29-5%) HP:0004334
18 pulmonary artery stenosis64 54 Very frequent (99-80%) HP:0004415
19 depressed nasal bridge64 54 Very frequent (99-80%) HP:0005280
20 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
21 recurrent sinusitis64 54 Frequent (79-30%) HP:0011108
22 midface retrusion64 54 Very frequent (99-80%) HP:0011800
23 calcification of cartilage64 54 Very frequent (99-80%) HP:0100593
24 tracheal atresia64 54 Very frequent (99-80%) HP:0100682
25 malar flattening64 HP:0000272
26 macrotia64 HP:0000400
27 growth abnormality64 HP:0001507
28 nasal speech64 HP:0001611
29 pulmonic stenosis64 HP:0001642
30 deep philtrum64 HP:0002002
31 cerebral calcification64 HP:0002514
32 recurrent bronchitis64 HP:0002837
33 peripheral pulmonary artery stenosis64 HP:0004969
34 pulmonary artery hypoplasia64 HP:0004971
35 calcification of the auricular cartilage64 HP:0005103
36 spontaneous abortion64 HP:0005268
37 cartilaginous ossification of nose64 HP:0005275
38 premature fusion of phalangeal epiphyses64 HP:0006140
39 costal cartilage calcification64 HP:0006646
40 cartilaginous ossification of larynx64 HP:0008747
41 short thumb64 HP:0009778
42 short hallux64 HP:0010109
43 epiphyseal stippling64 HP:0010655
44 chronic sinusitis64 HP:0011109
45 pulmonary arterial hypertension64 HP:0002092

UMLS symptoms related to Keutel Syndrome:


seizures

GenomeRNAi Phenotypes related to Keutel Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.0BMP2, MGP

MGI Mouse Phenotypes related to Keutel Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.4BMP2, GLA, MGP

Drugs & Therapeutics for Keutel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keutel Syndrome

Genetic Tests for Keutel Syndrome

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Genetic tests related to Keutel Syndrome:

id Genetic test Affiliating Genes
1 Keutel Syndrome27 24 MGP

Anatomical Context for Keutel Syndrome

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MalaCards organs/tissues related to Keutel Syndrome:

36
Trachea, Bone, Skin

Publications for Keutel Syndrome

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Articles related to Keutel Syndrome:

(show all 25)
idTitleAuthorsYear
1
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. (26349188)
2015
2
Keutel syndrome: Augmentation of the nose with serial fat grafting. (26981492)
2015
3
A rare cause of dyspnea in emergency medicine: Keutel syndrome. (26462901)
2015
4
Long term follow-up of four patients with Keutel syndrome. (25123378)
2014
5
Neuroimaging findings in children with Keutel syndrome. (23917590)
2014
6
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. (24458983)
2014
7
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. (22611639)
2012
8
Tracheobronchial stenosis in Keutel syndrome. (23024086)
2012
9
Circulating matrix I^-carboxyglutamate protein (MGP) species are refractory to vitaminA K treatment in a new case of Keutel syndrome. (21435166)
2011
10
Keutel syndrome in a patient presenting with hearing loss. (21090163)
2010
11
Tracheobronchial calcification associated with Keutel syndrome. (17290573)
2006
12
Keutel syndrome with overlapping features of cutis laxa: a new variant. (16642510)
2006
13
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. (16328322)
2006
14
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. (15810001)
2005
15
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. (12612818)
2003
16
Tracheobronchial stenosis in Keutel syndrome. (11405537)
2001
17
Follow-up of an adult with Keutel syndrome. (10377017)
1999
18
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. (9916809)
1999
19
Picture of the month. Keutel syndrome. (10401814)
1999
20
Keutel syndrome and miscarriages. (10096599)
1999
21
Keutel syndrome: further characterization and review. (9674914)
1998
22
The Keutel syndrome. Report of a case and review of the literature. (8414764)
1993
23
Keutel syndrome: a report of four cases. (2515061)
1989
24
Keutel syndrome: clinical report and literature review. (3717211)
1986
25
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. (6468443)
1984

Variations for Keutel Syndrome

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Clinvar genetic disease variations for Keutel Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MGPNM_ 001190839.2(MGP): c.43delG (p.Val15Terfs)deletionPathogenicrs730880321GRCh37Chr 12, 15038683: 15038683
2MGPNM_ 001190839.2(MGP): c.137-2A> GSNVPathogenicrs112518413GRCh37Chr 12, 15037181: 15037181
3MGPNM_ 001190839.2(MGP): c.162T> A (p.Tyr54Ter)SNVPathogenicrs730880322GRCh37Chr 12, 15037154: 15037154
4MGPNM_ 001190839.2(MGP): c.169+1G> ASNVPathogenicrs111320759GRCh37Chr 12, 15037146: 15037146

Expression for genes affiliated with Keutel Syndrome

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Search GEO for disease gene expression data for Keutel Syndrome.

Pathways for genes affiliated with Keutel Syndrome

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GO Terms for genes affiliated with Keutel Syndrome

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Cellular components related to Keutel Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5BMP2, GLA, MGP

Biological processes related to Keutel Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:00512169.5BMP2, MGP
2ossificationGO:00015039.0BMP2, MGP

Molecular functions related to Keutel Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.1BMP2, GLA

Sources for Keutel Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet