KTLS
MCID: KTL001
MIFTS: 37

Keutel Syndrome (KTLS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Keutel Syndrome

Aliases & Descriptions for Keutel Syndrome:

Name: Keutel Syndrome 54 50 24 56 66 29 13 52 69
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 56
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 24
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 50
Ktls 66

Characteristics:

Orphanet epidemiological data:

56
keutel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
keutel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 245150
Orphanet 56 ORPHA85202
MESH via Orphanet 43 C536167
UMLS via Orphanet 70 C1855607
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1855607

Summaries for Keutel Syndrome

NIH Rare Diseases : 50 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 syndrome, is related to nasodigitoacoustic syndrome and relapsing polychondritis, and has symptoms including seizures, hearing impairment and global developmental delay. An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, bone and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

OMIM : 54 Keutal syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses,... (245150) more...

UniProtKB/Swiss-Prot : 66 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia : 71 Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse... more...

Related Diseases for Keutel Syndrome

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

id Related Disease Score Top Affiliating Genes
1 nasodigitoacoustic syndrome 10.9
2 relapsing polychondritis 9.8
3 cutis laxa 9.8
4 carnitine deficiency, systemic primary 9.8 BMP2 MGP
5 c1r/c1s deficiency, combined 9.5 BMP2 GLA MGP

Graphical network of the top 20 diseases related to Keutel Syndrome:



Diseases related to Keutel Syndrome

Symptoms & Phenotypes for Keutel Syndrome

Symptoms by clinical synopsis from OMIM:

245150

Clinical features from OMIM:

245150

Human phenotypes related to Keutel Syndrome:

56 32 (show all 45)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 hearing impairment 56 32 Frequent (79-30%) HP:0000365
3 global developmental delay 56 32 Frequent (79-30%) HP:0001263
4 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
5 optic atrophy 56 32 Occasional (29-5%) HP:0000648
6 short stature 56 32 Occasional (29-5%) HP:0004322
7 intellectual disability, mild 56 32 Frequent (79-30%) HP:0001256
8 recurrent otitis media 56 32 Frequent (79-30%) HP:0000403
9 underdeveloped nasal alae 56 32 Frequent (79-30%) HP:0000430
10 long face 56 32 Very frequent (99-80%) HP:0000276
11 ventricular septal defect 56 32 Frequent (79-30%) HP:0001629
12 alopecia 56 32 Occasional (29-5%) HP:0001596
13 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
14 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
15 pulmonary artery stenosis 56 32 Very frequent (99-80%) HP:0004415
16 wide nose 56 32 Very frequent (99-80%) HP:0000445
17 sloping forehead 56 32 Frequent (79-30%) HP:0000340
18 calcification of cartilage 56 32 Very frequent (99-80%) HP:0100593
19 tracheal atresia 56 32 Very frequent (99-80%) HP:0100682
20 dermal atrophy 56 32 Occasional (29-5%) HP:0004334
21 recurrent sinusitis 56 32 Frequent (79-30%) HP:0011108
22 soft, doughy skin 56 32 Occasional (29-5%) HP:0001027
23 malar flattening 32 HP:0000272
24 cerebral calcification 32 HP:0002514
25 macrotia 32 HP:0000400
26 recurrent respiratory infections 56 Frequent (79-30%)
27 pulmonary hypertension 56 Frequent (79-30%)
28 epiphyseal stippling 32 HP:0010655
29 nasal speech 32 HP:0001611
30 deep philtrum 32 HP:0002002
31 pulmonic stenosis 32 HP:0001642
32 peripheral pulmonary artery stenosis 32 HP:0004969
33 short hallux 32 HP:0010109
34 chronic sinusitis 32 HP:0011109
35 short thumb 32 HP:0009778
36 pulmonary artery hypoplasia 32 HP:0004971
37 spontaneous abortion 32 HP:0005268
38 calcification of the auricular cartilage 32 HP:0005103
39 recurrent bronchitis 32 HP:0002837
40 pulmonary arterial hypertension 32 HP:0002092
41 growth abnormality 32 HP:0001507
42 costal cartilage calcification 32 HP:0006646
43 cartilaginous ossification of nose 32 HP:0005275
44 premature fusion of phalangeal epiphyses 32 HP:0006140
45 cartilaginous ossification of larynx 32 HP:0008747

UMLS symptoms related to Keutel Syndrome:


seizures

GenomeRNAi Phenotypes related to Keutel Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.5 BMP2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 MGP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.5 MGP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 MGP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.5 MGP BMP2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 MGP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 BMP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.5 MGP
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 BMP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.5 MGP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.5 MGP
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 MGP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.5 MGP
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 MGP

MGI Mouse Phenotypes related to Keutel Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 BMP2 GLA MGP

Drugs & Therapeutics for Keutel Syndrome

Search Clinical Trials , NIH Clinical Center for Keutel Syndrome

Genetic Tests for Keutel Syndrome

Genetic tests related to Keutel Syndrome:

id Genetic test Affiliating Genes
1 Keutel Syndrome 29 24 MGP

Anatomical Context for Keutel Syndrome

MalaCards organs/tissues related to Keutel Syndrome:

39
Trachea, Bone, Skin

Publications for Keutel Syndrome

Articles related to Keutel Syndrome:

(show all 25)
id Title Authors Year
1
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. ( 26349188 )
2015
2
Keutel syndrome: Augmentation of the nose with serial fat grafting. ( 26981492 )
2015
3
A rare cause of dyspnea in emergency medicine: Keutel syndrome. ( 26462901 )
2015
4
Long term follow-up of four patients with Keutel syndrome. ( 25123378 )
2014
5
Neuroimaging findings in children with Keutel syndrome. ( 23917590 )
2014
6
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. ( 24458983 )
2014
7
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. ( 22611639 )
2012
8
Tracheobronchial stenosis in Keutel syndrome. ( 23024086 )
2012
9
Circulating matrix I^-carboxyglutamate protein (MGP) species are refractory to vitaminA K treatment in a new case of Keutel syndrome. ( 21435166 )
2011
10
Keutel syndrome in a patient presenting with hearing loss. ( 21090163 )
2010
11
Tracheobronchial calcification associated with Keutel syndrome. ( 17290573 )
2006
12
Keutel syndrome with overlapping features of cutis laxa: a new variant. ( 16642510 )
2006
13
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. ( 16328322 )
2006
14
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. ( 15810001 )
2005
15
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. ( 12612818 )
2003
16
Tracheobronchial stenosis in Keutel syndrome. ( 11405537 )
2001
17
Follow-up of an adult with Keutel syndrome. ( 10377017 )
1999
18
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. ( 9916809 )
1999
19
Picture of the month. Keutel syndrome. ( 10401814 )
1999
20
Keutel syndrome and miscarriages. ( 10096599 )
1999
21
Keutel syndrome: further characterization and review. ( 9674914 )
1998
22
The Keutel syndrome. Report of a case and review of the literature. ( 8414764 )
1993
23
Keutel syndrome: a report of four cases. ( 2515061 )
1989
24
Keutel syndrome: clinical report and literature review. ( 3717211 )
1986
25
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndrome. ( 6468443 )
1984

Variations for Keutel Syndrome

ClinVar genetic disease variations for Keutel Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MGP NM_001190839.2(MGP): c.43delG (p.Val15Terfs) deletion Pathogenic rs730880321 GRCh37 Chromosome 12, 15038683: 15038683
2 MGP NM_001190839.2(MGP): c.137-2A> G single nucleotide variant Pathogenic rs112518413 GRCh37 Chromosome 12, 15037181: 15037181
3 MGP NM_001190839.2(MGP): c.162T> A (p.Tyr54Ter) single nucleotide variant Pathogenic rs730880322 GRCh37 Chromosome 12, 15037154: 15037154
4 MGP NM_001190839.2(MGP): c.169+1G> A single nucleotide variant Pathogenic rs111320759 GRCh37 Chromosome 12, 15037146: 15037146

Expression for Keutel Syndrome

Search GEO for disease gene expression data for Keutel Syndrome.

Pathways for Keutel Syndrome

GO Terms for Keutel Syndrome

Cellular components related to Keutel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.8 BMP2 GLA MGP

Biological processes related to Keutel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 8.96 BMP2 MGP
2 cartilage development GO:0051216 8.62 BMP2 MGP

Molecular functions related to Keutel Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 8.62 BMP2 GLA

Sources for Keutel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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