MCID: KTL001
MIFTS: 38

Keutel Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Keutel Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Keutel Syndrome:

Name: Keutel Syndrome 49 11 45 22 47 51 24 65 67
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 45 22
 
Pulmonic Stenosis - Brachytelephalangism - Calcification of Cartilages 51
Ktls 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 245150
Orphanet51 85202
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C536167
UMLS via Orphanet66 C1855607
MedGen34 C1855607

Summaries for Keutel Syndrome

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NIH Rare Diseases:45 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 and calcification of cartilages, is related to relapsing polychondritis and cutis laxa, 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:49 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

UniProtKB/Swiss-Prot:67 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia:68 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
1relapsing polychondritis10.2
2cutis laxa10.2
3osteoporosis9.9BMP2, MGP
4keutel syndrome9.4BMP2, GLA, MGP

Symptoms for Keutel Syndrome

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Symptoms by clinical synopsis from OMIM:

245150

Clinical features from OMIM:

245150

Symptoms:

 51 (show all 26)
  • long face
  • mid-facial hypoplasia/short/small midface
  • broad nose/nasal bridge
  • depressed nasal bridge
  • terminal/third phalangeal bone of fingers hypoplasia
  • tracheal atresia/stenosis
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • calcification of cartilages/intraarticular calcification
  • autosomal recessive inheritance
  • sloping forehead
  • thin/hypoplastic ala nasi
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • hearing loss/hypoacusia/deafness
  • chronic/relapsing otitis
  • pulmonary hypertension
  • abnormal cry/voice/phonation disorder/nasal speech
  • repeat respiratory infections
  • ventricular septal defect/interventricular communication
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • periarticular tissue anomaly/extraarticular calcifications
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • skin hypoplasia/aplasia/atrophy
  • loose skin/skin relaxation/excess skin/creases
  • alopecia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • short stature/dwarfism/nanism

HPO human phenotypes related to Keutel Syndrome:

(show all 53)
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 autosomal recessive inheritance HP:0000007
25 malar flattening HP:0000272
26 long face HP:0000276
27 hearing impairment HP:0000365
28 macrotia HP:0000400
29 recurrent otitis media HP:0000403
30 seizures HP:0001250
31 intellectual disability, mild HP:0001256
32 growth abnormality HP:0001507
33 nasal speech HP:0001611
34 ventricular septal defect HP:0001629
35 pulmonic stenosis HP:0001642
36 deep philtrum HP:0002002
37 cerebral calcification HP:0002514
38 recurrent bronchitis HP:0002837
39 peripheral pulmonary artery stenosis HP:0004969
40 pulmonary artery hypoplasia HP:0004971
41 calcification of the auricular cartilage HP:0005103
42 spontaneous abortion HP:0005268
43 cartilaginous ossification of nose HP:0005275
44 depressed nasal bridge HP:0005280
45 premature fusion of phalangeal epiphyses HP:0006140
46 costal cartilage calcification HP:0006646
47 cartilaginous ossification of larynx HP:0008747
48 short thumb HP:0009778
49 short distal phalanx of finger HP:0009882
50 short hallux HP:0010109
51 epiphyseal stippling HP:0010655
52 chronic sinusitis HP:0011109
53 hypoplasia of midface HP:0011800

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 Syndrome22 24 MGP

Anatomical Context for Keutel Syndrome

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MalaCards organs/tissues related to Keutel Syndrome:

33
Trachea, Skin, Bone

Animal Models for Keutel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Keutel Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5BMP2, GLA, MGP

Publications for Keutel Syndrome

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Articles related to Keutel Syndrome:

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.5BMP2, GLA, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet