MCID: KTL001
MIFTS: 37

Keutel Syndrome malady

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

Aliases & Classifications for Keutel Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Keutel Syndrome:

Name: Keutel Syndrome 50 46 23 52 68 25 12 48 66
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 52
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 23
 
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 46
Ktls 68

Characteristics:

Orphanet epidemiological data:

52
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
keutel syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 245150
Orphanet52 ORPHA85202
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536167
UMLS via Orphanet67 C1855607
MedGen35 C1855607

Summaries for Keutel Syndrome

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NIH Rare Diseases:46 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.

UniProtKB/Swiss-Prot:68 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

OMIM:50 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

Wikipedia:69 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 syndrome10.0
2relapsing polychondritis9.9
3cutis laxa9.9
4chylomicron retention disease9.7BMP2, MGP
5immunodeficiency with hyper-igm, type 28.6BMP2, 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

Symptoms:

 52 (show all 24)
  • long face
  • sloping forehead
  • hearing impairment
  • recurrent otitis media
  • underdeveloped nasal alae
  • wide nose
  • optic atrophy
  • soft, doughy skin
  • seizures
  • intellectual disability, mild
  • global developmental delay
  • alopecia
  • ventricular septal defect
  • pulmonary hypertension
  • recurrent respiratory infections
  • short stature
  • dermal atrophy
  • pulmonary artery stenosis
  • depressed nasal bridge
  • short distal phalanx of finger
  • recurrent sinusitis
  • midface retrusion
  • calcification of cartilage
  • tracheal atresia

HPO human phenotypes related to Keutel Syndrome:

(show all 52)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 long face hallmark (90%) HP:0000276
3 tracheal stenosis hallmark (90%) HP:0002777
4 depressed nasal bridge hallmark (90%) HP:0005280
5 short distal phalanx of finger hallmark (90%) HP:0009882
6 calcification of cartilage hallmark (90%) HP:0100593
7 sinusitis typical (50%) HP:0000246
8 sloping forehead typical (50%) HP:0000340
9 hearing impairment typical (50%) HP:0000365
10 otitis media typical (50%) HP:0000388
11 underdeveloped nasal alae typical (50%) HP:0000430
12 chondrocalcinosis typical (50%) HP:0000934
13 abnormality of the voice typical (50%) HP:0001608
14 ventricular septal defect typical (50%) HP:0001629
15 pulmonary hypertension typical (50%) HP:0002092
16 recurrent respiratory infections typical (50%) HP:0002205
17 cognitive impairment typical (50%) HP:0100543
18 optic atrophy occasional (7.5%) HP:0000648
19 cutis laxa occasional (7.5%) HP:0000973
20 seizures occasional (7.5%) HP:0001250
21 alopecia occasional (7.5%) HP:0001596
22 short stature occasional (7.5%) HP:0004322
23 aplasia/hypoplasia of the skin occasional (7.5%) HP:0008065
24 malar flattening HP:0000272
25 long face HP:0000276
26 hearing impairment HP:0000365
27 macrotia HP:0000400
28 recurrent otitis media HP:0000403
29 seizures HP:0001250
30 intellectual disability, mild HP:0001256
31 growth abnormality HP:0001507
32 nasal speech HP:0001611
33 ventricular septal defect HP:0001629
34 pulmonic stenosis HP:0001642
35 deep philtrum HP:0002002
36 cerebral calcification HP:0002514
37 recurrent bronchitis HP:0002837
38 peripheral pulmonary artery stenosis HP:0004969
39 pulmonary artery hypoplasia HP:0004971
40 calcification of the auricular cartilage HP:0005103
41 spontaneous abortion HP:0005268
42 cartilaginous ossification of nose HP:0005275
43 depressed nasal bridge HP:0005280
44 premature fusion of phalangeal epiphyses HP:0006140
45 costal cartilage calcification HP:0006646
46 cartilaginous ossification of larynx HP:0008747
47 short thumb HP:0009778
48 short distal phalanx of finger HP:0009882
49 short hallux HP:0010109
50 epiphyseal stippling HP:0010655
51 chronic sinusitis HP:0011109
52 midface retrusion HP:0011800

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 Syndrome25 23 MGP

Anatomical Context for Keutel Syndrome

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MalaCards organs/tissues related to Keutel Syndrome:

34
Trachea, Skin, Bone

Animal Models for Keutel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Keutel Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.7BMP2, 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> Gsingle nucleotide variantPathogenicrs112518413GRCh37Chr 12, 15037181: 15037181
3MGPNM_000900.3(MGP): c.87T> A (p.Tyr29Ter)single nucleotide variantPathogenicrs730880322GRCh37Chr 12, 15037154: 15037154
4MGPNM_000900.3(MGP): c.94+1G> Asingle nucleotide variantPathogenicrs111320759GRCh37Chr 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet