MCID: KTL001
MIFTS: 41

Keutel Syndrome malady

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

Summaries for Keutel Syndrome

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NIH Rare Diseases:41 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, 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). The compounds calcitriol and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include skin, trachea and bone, and related mouse phenotype cardiovascular system.

OMIM:45 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

Wikipedia:63 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Aliases & Classifications for Keutel Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Keutel Syndrome, Aliases & Descriptions:

Name: Keutel Syndrome 45 10 41 20 43 47 22 60
Pulmonic Stenosis - Brachytelephalangism - Calcification of Cartilages 41 47
 
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
keutel syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 245150
Orphanet47 85202
MESH via Orphanet34 C536167
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1855607

Related Diseases for Keutel Syndrome

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Diseases related to Keutel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1relapsing polychondritis10.1
2cutis laxa10.1
3hyperphosphatemia10.1MGP, BMP2
4familial hyperlipidemia10.0BMP2, MGP
5osteoporosis10.0BMP2, MGP
6osteosarcoma, somatic10.0MGP, BMP2
7breast cancer10.0MGP, BMP2
8myocardial infarction9.9MGP, GLA
9diabetes mellitus, insulin-dependent9.8BMP2, MGP
10primary hyperoxaluria9.8MGP, GLA
11atherosclerosis9.7GLA, BMP2, 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:

 47 (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 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 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 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

Drugs & Therapeutics for Keutel Syndrome

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Drug clinical trials:

Search ClinicalTrials for Keutel Syndrome

Search 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 Syndrome20 22 MGP

Anatomical Context for Keutel Syndrome

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MalaCards organs/tissues related to Keutel Syndrome:

31
Skin, Trachea, Bone

Animal Models for Keutel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Keutel Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.5GLA, BMP2, MGP

Publications for Keutel Syndrome

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Articles related to Keutel Syndrome:

(show all 21)
idTitleAuthorsYear
1
Neuroimaging findings in children with Keutel syndrome. (23917590)
2014
2
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. (24458983)
2014
3
Long term follow-up of four patients with Keutel syndrome. (25123378)
2014
4
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. (22611639)
2012
5
Tracheobronchial stenosis in Keutel syndrome. (23024086)
2012
6
Circulating matrix I^-carboxyglutamate protein (MGP) species are refractory to vitaminA K treatment in a new case of Keutel syndrome. (21435166)
2011
7
Keutel syndrome in a patient presenting with hearing loss. (21090163)
2010
8
Keutel syndrome with overlapping features of cutis laxa: a new variant. (16642510)
2006
9
Tracheobronchial calcification associated with Keutel syndrome. (17290573)
2006
10
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. (15810001)
2005
11
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. (12612818)
2003
12
Tracheobronchial stenosis in Keutel syndrome. (11405537)
2001
13
Keutel syndrome and miscarriages. (10096599)
1999
14
Picture of the month. Keutel syndrome. (10401814)
1999
15
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. (9916809)
1999
16
Follow-up of an adult with Keutel syndrome. (10377017)
1999
17
Keutel syndrome: further characterization and review. (9674914)
1998
18
The Keutel syndrome. Report of a case and review of the literature. (8414764)
1993
19
Keutel syndrome: a report of four cases. (2515061)
1989
20
Keutel syndrome: clinical report and literature review. (3717211)
1986
21
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MGPMGP, 1-BP DEL, 69GdeletionPathogenic
2MGPMGP, IVS1, A-G, -2single nucleotide variantPathogenic
3MGPMGP, 113T-Asingle nucleotide variantPathogenic
4MGPMGP, IVS2, G-A, +1single nucleotide variantPathogenic

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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Compounds for genes affiliated with Keutel Syndrome

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Compounds related to Keutel Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1calcitriol43 59 24 1212.5BMP2, MGP
2vitamin d439.5BMP2, MGP
3lysine439.4BMP2, MGP
4gamma-carboxyglutamic acid439.3GLA, MGP
5lactate439.1GLA, BMP2
6arginine439.1GLA, BMP2
7creatinine439.0BMP2, GLA
8cholesterol43 28 24 1212.0BMP2, MGP
9hydroxyapatite438.7GLA, BMP2, MGP
10serine438.7MGP, BMP2, GLA
11calcium43 49 24 1211.6MGP, BMP2, GLA

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:00051029.1GLA, BMP2

Products for genes affiliated with Keutel Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Keutel Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet