MCID: KTL001
MIFTS: 35

Keutel Syndrome malady

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

Aliases & Classifications for Keutel Syndrome

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Keutel Syndrome:

Name: Keutel Syndrome 51 47 24 53 69 26 12 49 67
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 53
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 24
 
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 47
Ktls 69

Characteristics:

Orphanet epidemiological data:

53
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

63
keutel syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 245150
Orphanet53 ORPHA85202
MESH via Orphanet39 C536167
UMLS via Orphanet68 C1855607
ICD10 via Orphanet30 Q87.8
MedGen36 C1855607

Summaries for Keutel Syndrome

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NIH Rare Diseases:47 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 malar flattening, long face and tracheal stenosis. An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, skin and bone, and related mouse phenotype cardiovascular system.

OMIM:51 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

UniProtKB/Swiss-Prot:69 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia:70 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
4chylomicron retention disease9.5BMP2, MGP
5immunodeficiency with hyper-igm, type 28.8BMP2, GLA, MGP

Graphical network of diseases related to Keutel Syndrome:



Diseases related to keutel syndrome

Symptoms 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:

 63 53 (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 hallmark (90%) HP:0000272
2 long face63 53 hallmark (90%) Very frequent (99-80%) HP:0000276
3 tracheal stenosis63 hallmark (90%) HP:0002777
4 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
5 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
6 calcification of cartilage63 53 hallmark (90%) Very frequent (99-80%) HP:0100593
7 sinusitis63 typical (50%) HP:0000246
8 sloping forehead63 53 typical (50%) Frequent (79-30%) HP:0000340
9 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
10 otitis media63 typical (50%) HP:0000388
11 underdeveloped nasal alae63 53 typical (50%) Frequent (79-30%) HP:0000430
12 chondrocalcinosis63 typical (50%) HP:0000934
13 abnormality of the voice63 typical (50%) HP:0001608
14 ventricular septal defect63 53 typical (50%) Frequent (79-30%) HP:0001629
15 pulmonary hypertension63 53 typical (50%) Frequent (79-30%) HP:0002092
16 recurrent respiratory infections63 53 typical (50%) Frequent (79-30%) HP:0002205
17 cognitive impairment63 typical (50%) HP:0100543
18 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
19 cutis laxa63 occasional (7.5%) HP:0000973
20 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
21 alopecia63 53 occasional (7.5%) Occasional (29-5%) HP:0001596
22 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
23 aplasia/hypoplasia of the skin63 occasional (7.5%) HP:0008065
24 macrotia63 HP:0000400
25 recurrent otitis media63 53 Frequent (79-30%) HP:0000403
26 intellectual disability, mild63 53 Frequent (79-30%) HP:0001256
27 growth abnormality63 HP:0001507
28 nasal speech63 HP:0001611
29 pulmonic stenosis63 HP:0001642
30 deep philtrum63 HP:0002002
31 cerebral calcification63 HP:0002514
32 recurrent bronchitis63 HP:0002837
33 peripheral pulmonary artery stenosis63 HP:0004969
34 pulmonary artery hypoplasia63 HP:0004971
35 calcification of the auricular cartilage63 HP:0005103
36 spontaneous abortion63 HP:0005268
37 cartilaginous ossification of nose63 HP:0005275
38 premature fusion of phalangeal epiphyses63 HP:0006140
39 costal cartilage calcification63 HP:0006646
40 cartilaginous ossification of larynx63 HP:0008747
41 short thumb63 HP:0009778
42 short hallux63 HP:0010109
43 epiphyseal stippling63 HP:0010655
44 chronic sinusitis63 HP:0011109
45 midface retrusion63 53 Very frequent (99-80%) HP:0011800
46 wide nose53 Very frequent (99-80%)
47 soft, doughy skin53 Occasional (29-5%)
48 global developmental delay53 Frequent (79-30%)
49 dermal atrophy53 Occasional (29-5%)
50 pulmonary artery stenosis53 Very frequent (99-80%)
51 recurrent sinusitis53 Frequent (79-30%)
52 tracheal atresia53 Very frequent (99-80%)

UMLS symptoms related to Keutel Syndrome:


seizures

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 Syndrome26 24 MGP

Anatomical Context for Keutel Syndrome

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MalaCards organs/tissues related to Keutel Syndrome:

35
Trachea, Skin, Bone

Animal Models for Keutel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Keutel Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.4BMP2, GLA, MGP

Publications for Keutel Syndrome

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Articles related to Keutel Syndrome:

(show all 25)
idTitleAuthorsYear
1
A rare cause of dyspnea in emergency medicine: Keutel syndrome. (26462901)
2015
2
Keutel syndrome: Augmentation of the nose with serial fat grafting. (26981492)
2015
3
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. (26349188)
2015
4
Neuroimaging findings in children with Keutel syndrome. (23917590)
2014
5
Long term follow-up of four patients with Keutel syndrome. (25123378)
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
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. (16328322)
2006
12
Keutel syndrome with overlapping features of cutis laxa: a new variant. (16642510)
2006
13
Tracheobronchial calcification associated with Keutel syndrome. (17290573)
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
Keutel syndrome and miscarriages. (10096599)
1999
18
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. (9916809)
1999
19
Follow-up of an adult with Keutel syndrome. (10377017)
1999
20
Picture of the month. Keutel syndrome. (10401814)
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_000900.3(MGP): c.43delG (p.Val15Terfs)deletionPathogenicrs730880321GRCh37Chr 12, 15038683: 15038683
2MGPNM_000900.3(MGP): c.62-2A> GSNVPathogenicrs112518413GRCh37Chr 12, 15037181: 15037181
3MGPNM_000900.3(MGP): c.87T> A (p.Tyr29Ter)SNVPathogenicrs730880322GRCh37Chr 12, 15037154: 15037154
4MGPNM_000900.3(MGP): c.94+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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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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet