MCID: KTL001
MIFTS: 39

Keutel Syndrome

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

Aliases & Classifications for Keutel Syndrome

MalaCards integrated aliases for Keutel Syndrome:

Name: Keutel Syndrome 53 72 49 55 71 36 28 13 51 69
Ktls 53 71
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 55
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 53
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 49

Characteristics:

Orphanet epidemiological data:

55
keutel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
keutel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Keutel Syndrome

NIH Rare Diseases : 49 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 ktls, is related to nasodigitoacoustic syndrome and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 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 lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 Keutel syndrome is an autosomal recessive disorder characterized by multiple peripheral pulmonary stenoses, brachytelephalangy, inner ear deafness, and abnormal cartilage ossification or calcification (summary by Khosroshahi et al., 2014). (245150)

UniProtKB/Swiss-Prot : 71 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia : 72 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:

# Related Disease Score Top Affiliating Genes
1 nasodigitoacoustic syndrome 11.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 relapsing polychondritis 9.9
4 cutis laxa 9.9
5 osteoporosis 9.3 BMP2 MGP

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



Diseases related to Keutel Syndrome

Symptoms & Phenotypes for Keutel Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
normal intelligence
mental retardation, mild
cerebral calcifications

Head And Neck Face:
long face
deep philtrum
midface hypoplasia, mild

Cardiovascular Heart:
ventricular septal defect

Cardiovascular Vascular:
pulmonary artery hypoplasia
peripheral pulmonary stenosis
arterial hypertension

Skeletal Hands:
short thumbs
variable shortening of terminal phalanges (brachytelephalangy)
premature fusion of phalangeal epiphyses
interdigital webbing, mild

Growth Height:
stature below 25th percentile

Respiratory Larynx:
cartilaginous ossification of larynx
tracheobronchial stenosis

Skeletal:
abnormal cartilage ossification (nose, pinnae, larynx, epiglottis, trachea, bronchial rings, costochondral junctions)

Skin Nails Hair Skin:
erythematous, irregular macular lesions without induration on dorsum of hands, neck, and trunk

Prenatal Manifestations Delivery:
increased risk of spontaneous abortion

Head And Neck Nose:
depressed nasal bridge
small alae nasi
cartilaginous ossification of nose

Voice:
nasal speech

Respiratory Nasopharynx:
chronic sinusitis

Respiratory Airways:
recurrent bronchitis
obstructive lung disease
cartilaginous ossification of trachea and bronchi
bullous emphysema

Skeletal Feet:
short halluces

Head And Neck Ears:
hearing loss (sensorineural, mixed, and conductive)
large, prominent pinnae
pale, stiff pinnae
progressive cartilaginous ossification of pinnae
recurrent episodes of otitis media

Chest RibsSternum Clavicles And Scapulae:
cartilaginous ossification of rib

Skeletal Limbs:
epiphyseal stippling (infancy)

Skin Nails Hair Skin Histology:
absence of elastic fibers in dermis


Clinical features from OMIM:

245150

Human phenotypes related to Keutel Syndrome:

55 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
3 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
4 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
6 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
7 intellectual disability, mild 55 31 frequent (33%) Frequent (79-30%) HP:0001256
8 pulmonary arterial hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0002092
9 recurrent otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000403
10 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
11 underdeveloped nasal alae 55 31 frequent (33%) Frequent (79-30%) HP:0000430
12 long face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000276
13 ventricular septal defect 55 31 frequent (33%) Frequent (79-30%) HP:0001629
14 midface retrusion 55 31 hallmark (90%) Very frequent (99-80%) HP:0011800
15 short distal phalanx of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0009882
16 pulmonary artery stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004415
17 wide nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000445
18 sloping forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000340
19 calcification of cartilage 55 31 hallmark (90%) Very frequent (99-80%) HP:0100593
20 tracheal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0100682
21 dermal atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0004334
22 recurrent sinusitis 55 31 frequent (33%) Frequent (79-30%) HP:0011108
23 soft, doughy skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0001027
24 malar flattening 31 HP:0000272
25 cerebral calcification 31 HP:0002514
26 macrotia 31 HP:0000400
27 recurrent respiratory infections 55 Frequent (79-30%)
28 epiphyseal stippling 31 HP:0010655
29 nasal speech 31 HP:0001611
30 deep philtrum 31 HP:0002002
31 pulmonic stenosis 31 HP:0001642
32 peripheral pulmonary artery stenosis 31 HP:0004969
33 short hallux 31 HP:0010109
34 spontaneous abortion 31 HP:0005268
35 chronic sinusitis 31 HP:0011109
36 short thumb 31 HP:0009778
37 pulmonary artery hypoplasia 31 HP:0004971
38 calcification of the auricular cartilage 31 HP:0005103
39 recurrent bronchitis 31 HP:0002837
40 costal cartilage calcification 31 HP:0006646
41 cartilaginous ossification of nose 31 HP:0005275
42 cartilaginous ossification of larynx 31 HP:0008747
43 premature fusion of phalangeal epiphyses 31 HP:0006140
44 growth abnormality 31 HP:0001507

UMLS symptoms related to Keutel Syndrome:


seizures

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

25 (show all 14)
# 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 BMP2 MGP
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:

43
# 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:

# Genetic test Affiliating Genes
1 Keutel Syndrome 28 MGP

Anatomical Context for Keutel Syndrome

MalaCards organs/tissues related to Keutel Syndrome:

38
Trachea, Bone, Lung, Skin

Publications for Keutel Syndrome

Articles related to Keutel Syndrome:

(show all 25)
# Title Authors Year
1
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. ( 26349188 )
2015
2
A rare cause of dyspnea in emergency medicine: Keutel syndrome. ( 26462901 )
2015
3
Keutel syndrome: Augmentation of the nose with serial fat grafting. ( 26981492 )
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
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. ( 16328322 )
2006
12
Keutel syndrome with overlapping features of cutis laxa: a new variant. ( 16642510 )
2006
13
Tracheobronchial calcification associated with Keutel syndrome. ( 17290573 )
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
Keutel syndrome and miscarriages. ( 10096599 )
1999
18
Picture of the month. Keutel syndrome. ( 10401814 )
1999
19
Follow-up of an adult with Keutel syndrome. ( 10377017 )
1999
20
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. ( 9916809 )
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
# 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_000900.4(MGP): c.94+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111320759 GRCh37 Chromosome 12, 15037146: 15037146
5 MGP NM_001190839.2(MGP): c.162T> A (p.Tyr54Ter) single nucleotide variant Pathogenic rs730880322 GRCh38 Chromosome 12, 14884220: 14884220

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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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