MCID: KTL001
MIFTS: 38

Keutel Syndrome malady

Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Keutel Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 binder syndrome and cutis laxa, and has symptoms including skin hypoplasia/aplasia/atrophy, ventricular septal defect/interventricular communication and long face. 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:63 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Description from OMIM:46 245150

Aliases & Classifications for Keutel Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

keutel syndrome 42 20 22 46 44 48 60
pulmonic stenosis brachytelephalangism and calcification of cartilages 42
pulmonic stenosis - brachytelephalangism - calcification of cartilages 48


External Ids:

OMIM46 245150
MESH via Orphanet35 C536167
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1855607

Related Diseases for Keutel Syndrome

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

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

Graphical network of diseases related to Keutel Syndrome:



Diseases related to keutel syndrome

Clinical Features for Keutel Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

245150

Clinical synopsis from OMIM:

245150

Symptoms:

48 (show all 26)
  • 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
  • thin/hypoplastic ala nasi
  • pulmonary hypertension
  • periarticular tissue anomaly/extraarticular calcifications
  • 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
  • autosomal recessive inheritance

Drugs & Therapeutics for Keutel Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Keutel Syndrome

Search CenterWatch for Keutel Syndrome

Genetic Tests for Keutel Syndrome

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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

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32MalaCards
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MalaCards organs/tissues related to Keutel Syndrome:

32
Trachea, Skin, Bone

Animal Models for Keutel Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Keutel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5GLA, MGP, BMP2

Publications for Keutel Syndrome

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Genetic Variations for Keutel Syndrome

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Expression for genes affiliated with Keutel Syndrome

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Sources:
1BioGPS, 15Gene 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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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Keutel Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcitriol44 59 11 2412.5MGP, BMP2
2vitamin d449.4BMP2, MGP
3lysine449.2BMP2, MGP
4gamma-carboxyglutamic acid449.2MGP, GLA
5creatinine449.1GLA, BMP2
6lactate448.8BMP2, GLA
7hydroxyapatite448.7BMP2, MGP, GLA
8serine448.6GLA, MGP, BMP2
9calcium44 49 11 2411.5BMP2, MGP, GLA

GO Terms for genes affiliated with Keutel Syndrome

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Keutel Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet