MCID: KTL001
MIFTS: 45

Keutel Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Keutel Syndrome

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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 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 long face, mid-facial hypoplasia/short/small midface and broad nose/nasal bridge. 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:65 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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Keutel Syndrome, Aliases & Descriptions:

Name: Keutel Syndrome 42 20 22 46 44 48 62
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 42
 
Pulmonic Stenosis - Brachytelephalangism - Calcification of Cartilages 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 245150
MESH via Orphanet35 C536167
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1855607

Related Diseases for Keutel Syndrome

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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
1relapsing polychondritis10.1
2cutis laxa10.1
3nasodigitoacoustic syndrome10.1
4hyperphosphatemia10.1MGP, BMP2
5familial hyperlipidemia10.0BMP2, MGP
6osteoporosis10.0BMP2, MGP
7osteosarcoma10.0MGP, BMP2
8breast cancer10.0MGP, BMP2
9myocardial infarction9.9MGP, GLA
10diabetes mellitus9.8BMP2, MGP
11primary hyperoxaluria9.8MGP, GLA
12atherosclerosis9.7GLA, 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:

48 (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:

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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:

32
Trachea, Skin, Bone

Animal Models for Keutel Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Keutel Syndrome:

36
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 22)
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
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. (16328322)
2006
9
Keutel syndrome with overlapping features of cutis laxa: a new variant. (16642510)
2006
10
Tracheobronchial calcification associated with Keutel syndrome. (17290573)
2006
11
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. (15810001)
2005
12
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. (12612818)
2003
13
Tracheobronchial stenosis in Keutel syndrome. (11405537)
2001
14
Keutel syndrome and miscarriages. (10096599)
1999
15
Picture of the month. Keutel syndrome. (10401814)
1999
16
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. (9916809)
1999
17
Follow-up of an adult with Keutel syndrome. (10377017)
1999
18
Keutel syndrome: further characterization and review. (9674914)
1998
19
The Keutel syndrome. Report of a case and review of the literature. (8414764)
1993
20
Keutel syndrome: a report of four cases. (2515061)
1989
21
Keutel syndrome: clinical report and literature review. (3717211)
1986
22
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 Name 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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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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Compounds related to Keutel Syndrome according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1calcitriol44 61 24 1112.5BMP2, MGP
2vitamin d449.5MGP, BMP2
3lysine449.4BMP2, MGP
4gamma-carboxyglutamic acid449.3MGP, GLA
5lactate449.1GLA, BMP2
6arginine449.1GLA, BMP2
7creatinine449.0GLA, BMP2
8cholesterol44 28 24 1112.0MGP, BMP2
9hydroxyapatite448.7MGP, BMP2, GLA
10serine448.7MGP, GLA, BMP2
11calcium44 50 24 1111.6GLA, BMP2, MGP

GO Terms for genes affiliated with Keutel Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet