MCID: KTL001
MIFTS: 44

Keutel Syndrome malady

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

Summaries for Keutel Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Keutel Syndrome, also known as pulmonic stenosis brachytelephalangism and calcification of cartilages, is related to cutis laxa and nasodigitoacoustic syndrome, and has symptoms including repeat respiratory infections, ventricular septal defect/interventricular communication and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Keutel Syndrome is MGP (matrix Gla protein). The compounds calcitriol and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include trachea, skin and bone, and related mouse phenotype cardiovascular system.

Wikipedia:66 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Description from OMIM:48 245150

Aliases & Classifications for Keutel Syndrome

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

keutel syndrome 44 21 23 48 46 50 63
pulmonic stenosis brachytelephalangism and calcification of cartilages 44
pulmonic stenosis - brachytelephalangism - calcification of cartilages 50


External Ids:

OMIM48 245150
MESH via Orphanet37 C536167
ICD10 via Orphanet27 Q87.8
UMLS via Orphanet64 C1855607

Related Diseases for Keutel Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Keutel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cutis laxa10.1
2nasodigitoacoustic syndrome10.1
3hyperphosphatemia10.0MGP, BMP2
4familial hyperlipidemia10.0BMP2, MGP
5osteoporosis10.0BMP2, MGP
6osteosarcoma10.0MGP, BMP2
7breast cancer10.0MGP, BMP2
8myocardial infarction10.0MGP, GLA
9diabetes mellitus10.0BMP2, MGP
10primary hyperoxaluria9.9MGP, GLA
11hypertrophy of breast9.9GLA, BMP2, MGP
12atherosclerosis9.9GLA, BMP2, MGP

Graphical network of diseases related to Keutel Syndrome:



Diseases related to keutel syndrome

Symptoms for Keutel Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

245150

Clinical features from OMIM:

245150

Symptoms:

50 (show all 26)
  • 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
  • abnormal cry/voice/phonation disorder/nasal speech
  • pulmonary hypertension
  • chronic/relapsing otitis
  • 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
  • long face

Drugs & Therapeutics for Keutel Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Keutel Syndrome

Drug clinical trials:

Search ClinicalTrials for Keutel Syndrome

Search NIH Clinical Center for Keutel Syndrome

Search CenterWatch for Keutel Syndrome

Genetic Tests for Keutel Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Keutel Syndrome:

id Genetic test Affiliating Genes
1 Keutel Syndrome21 23 MGP

Anatomical Context for Keutel Syndrome

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34MalaCards
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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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Sources:
38MGI
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MGI Mouse Phenotypes related to Keutel Syndrome:

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

Publications for Keutel Syndrome

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53PubMed
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Articles related to Keutel Syndrome:

(show all 19)
idTitleAuthorsYear
1
Neuroimaging findings in children with Keutel syndrome. (23917590)
2014
2
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. (22611639)
2012
3
Tracheobronchial stenosis in Keutel syndrome. (23024086)
2012
4
Circulating matrix I^-carboxyglutamate protein (MGP) species are refractory to vitaminA K treatment in a new case of Keutel syndrome. (21435166)
2011
5
Keutel syndrome in a patient presenting with hearing loss. (21090163)
2010
6
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. (16328322)
2006
7
Keutel syndrome with overlapping features of cutis laxa: a new variant. (16642510)
2006
8
Tracheobronchial calcification associated with Keutel syndrome. (17290573)
2006
9
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. (15810001)
2005
10
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. (12612818)
2003
11
Tracheobronchial stenosis in Keutel syndrome. (11405537)
2001
12
Keutel syndrome and miscarriages. (10096599)
1999
13
Picture of the month. Keutel syndrome. (10401814)
1999
14
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. (9916809)
1999
15
Follow-up of an adult with Keutel syndrome. (10377017)
1999
16
Keutel syndrome: further characterization and review. (9674914)
1998
17
The Keutel syndrome. Report of a case and review of the literature. (8414764)
1993
18
Keutel syndrome: clinical report and literature review. (3717211)
1986
19
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. (6468443)
1984

Variations for Keutel Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Keutel Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MGPMGP, 1-BP DEL, 69GdeletionPathogenic/card/keutel_syndrome
2MGPMGP, IVS1, A-G, -2single nucleotide variantPathogenic/card/keutel_syndrome
3MGPMGP, 113T-Asingle nucleotide variantPathogenic/card/keutel_syndrome
4MGPMGP, IVS2, G-A, +1single nucleotide variantPathogenic/card/keutel_syndrome

Expression for genes affiliated with Keutel Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keutel Syndrome

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Pathways for genes affiliated with Keutel Syndrome

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Compounds for genes affiliated with Keutel Syndrome

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46Novoseek, 62Tocris Bioscience, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB
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Compounds related to Keutel Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1calcitriol46 62 25 1212.5BMP2, MGP
2vitamin d469.5BMP2, MGP
3lysine469.4BMP2, MGP
4gamma-carboxyglutamic acid469.3GLA, MGP
5lactate469.1GLA, BMP2
6arginine469.1GLA, BMP2
7creatinine469.0BMP2, GLA
8cholesterol46 30 25 1212.0BMP2, MGP
9hydroxyapatite468.7GLA, BMP2, MGP
10serine468.7MGP, BMP2, GLA
11calcium46 52 25 1211.6MGP, BMP2, GLA

GO Terms for genes affiliated with Keutel Syndrome

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17Gene Ontology
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Molecular functions related to Keutel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.1GLA, BMP2

Products for genes affiliated with Keutel Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keutel Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet