MCID: KTL001
MIFTS: 37

Keutel Syndrome malady

Neuronal, Bone, Fetal categories

Summaries for Keutel Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 n syndrome and char syndrome, and has symptoms including autosomal recessive inheritance, seizures/epilepsy/absences/spasms/status epilepticus 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, and related mouse phenotype cardiovascular system.

Wikipedia:64 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Description from OMIM:47 245150

Aliases & Classifications for Keutel Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Bone


Characteristics (Orphanet epidemiological data):

49
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

keutel syndrome 43 20 22 47 45 49 61
pulmonic stenosis brachytelephalangism and calcification of cartilages 43
pulmonic stenosis - brachytelephalangism - calcification of cartilages 49


External Ids:

OMIM47 245150
MESH via Orphanet36 C536167
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet62 C1855607

Related Diseases for Keutel Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Keutel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1n syndrome10.2
2char syndrome10.2
3binder syndrome10.1
4cutis laxa10.1
5adult syndrome10.1
6nasodigitoacoustic syndrome10.1
7vascular disease10.0MGP
8hyperphosphatemia10.0BMP2, MGP
9familial hyperlipidemia10.0BMP2, MGP
10osteoporosis10.0MGP, BMP2
11primary hyperoxaluria10.0GLA, MGP
12hypertrophy of breast10.0MGP, GLA, BMP2
13atherosclerosis10.0BMP2, MGP, GLA

Graphical network of diseases related to Keutel Syndrome:



Diseases related to keutel syndrome

Clinical Features for Keutel Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

245150

Clinical synopsis from OMIM:

245150

Symptoms:

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

Drugs & Therapeutics for Keutel Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Keutel Syndrome:

id Genetic test Affiliating Genes
1 Keutel Syndrome20 22 MGP

Anatomical Context for Keutel Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Keutel Syndrome:

33
Trachea

Animal Models for Keutel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Keutel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5GLA, MGP, BMP2

Publications for Keutel Syndrome

Sources:
51PubMed
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Articles related to Keutel Syndrome:

(show all 20)
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: a report of four cases. (2515061)
1989
19
Keutel syndrome: clinical report and literature review. (3717211)
1986
20
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. (6468443)
1984

Genetic Variations for Keutel Syndrome

Expression for genes affiliated with Keutel Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Keutel Syndrome

Search GEO for disease gene expression data for Keutel Syndrome.

Pathways for genes affiliated with Keutel Syndrome

Compounds for genes affiliated with Keutel Syndrome

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Keutel Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol45 60 11 2412.5MGP, BMP2
2vitamin d459.4BMP2, MGP
3lysine459.2BMP2, MGP
4gamma-carboxyglutamic acid459.2MGP, GLA
5creatinine459.1GLA, BMP2
6lactate458.8BMP2, GLA
7hydroxyapatite458.7BMP2, MGP, GLA
8serine458.6GLA, MGP, BMP2
9calcium45 50 11 2411.5BMP2, MGP, GLA

GO Terms for genes affiliated with Keutel Syndrome

Sources:
16Gene 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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keutel Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet