MCID: KTL001
MIFTS: 39

Keutel Syndrome

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

Aliases & Classifications for Keutel Syndrome

MalaCards integrated aliases for Keutel Syndrome:

Name: Keutel Syndrome 57 76 53 59 75 37 29 13 55 6 40 73
Ktls 57 75
Pulmonic Stenosis-Brachytelephalangism-Calcification of Cartilages Syndrome 59
Pulmonic Stenosis, Brachytelephalangism, and Calcification of Cartilages 57
Pulmonic Stenosis Brachytelephalangism and Calcification of Cartilages 53

Characteristics:

Orphanet epidemiological data:

59
keutel syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
keutel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Keutel Syndrome

NIH Rare Diseases : 53 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.

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 An important gene associated with Keutel Syndrome is MGP (Matrix Gla Protein). Affiliated tissues include trachea, bone and lung, and related phenotypes are seizures and hearing impairment

OMIM : 57 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 : 75 Keutel syndrome: An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia.

Wikipedia : 76 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 peripheral pulmonary stenosis 9.9
6 kidney disease 9.5 GLA MGP
7 osteoporosis 8.9 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:

57
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 Ribs Sternum 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:

59 32 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
3 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
6 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
7 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
8 pulmonary arterial hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0002092
9 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000403
10 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
11 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
12 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
13 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
14 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
15 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
16 pulmonary artery stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004415
17 wide nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000445
18 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
19 calcification of cartilage 59 32 hallmark (90%) Very frequent (99-80%) HP:0100593
20 tracheal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100682
21 dermal atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0004334
22 recurrent sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0011108
23 soft, doughy skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0001027
24 malar flattening 32 HP:0000272
25 cerebral calcification 32 HP:0002514
26 macrotia 32 HP:0000400
27 recurrent respiratory infections 59 Frequent (79-30%)
28 sinusitis 32 HP:0000246
29 epiphyseal stippling 32 HP:0010655
30 nasal speech 32 HP:0001611
31 deep philtrum 32 HP:0002002
32 pulmonic stenosis 32 HP:0001642
33 peripheral pulmonary artery stenosis 32 HP:0004969
34 short hallux 32 HP:0010109
35 spontaneous abortion 32 HP:0005268
36 chronic sinusitis 32 HP:0011109
37 short thumb 32 HP:0009778
38 pulmonary artery hypoplasia 32 HP:0004971
39 calcification of the auricular cartilage 32 HP:0005103
40 recurrent bronchitis 32 HP:0002837
41 costal cartilage calcification 32 HP:0006646
42 cartilaginous ossification of nose 32 HP:0005275
43 cartilaginous ossification of larynx 32 HP:0008747
44 premature fusion of phalangeal epiphyses 32 HP:0006140
45 growth abnormality 32 HP:0001507

UMLS symptoms related to Keutel Syndrome:


seizures

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

26 (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-116 9.5 BMP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 MGP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.5 MGP
5 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.5 MGP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.5 BMP2 MGP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.5 MGP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 BMP2
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:

46
# 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 29 MGP

Anatomical Context for Keutel Syndrome

MalaCards organs/tissues related to Keutel Syndrome:

41
Trachea, Bone, Lung, Skin

Publications for Keutel Syndrome

Articles related to Keutel Syndrome:

(show all 26)
# Title Authors Year
1
A Novel MGP Gene Mutation Causing Keutel Syndrome in a Brazilian Patient. ( 29928182 )
2018
2
CLINICAL VARIABILITY IN TWO SISTERS WITH KEUTEL SYNDROME DUE TO A HOMOZYGOUS MUTATION IN MGP GENE. ( 26349188 )
2015
3
A rare cause of dyspnea in emergency medicine: Keutel syndrome. ( 26462901 )
2015
4
Keutel syndrome: Augmentation of the nose with serial fat grafting. ( 26981492 )
2015
5
Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. ( 24458983 )
2014
6
Long term follow-up of four patients with Keutel syndrome. ( 25123378 )
2014
7
Neuroimaging findings in children with Keutel syndrome. ( 23917590 )
2014
8
A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype. ( 22611639 )
2012
9
Tracheobronchial stenosis in Keutel syndrome. ( 23024086 )
2012
10
Circulating matrix I^-carboxyglutamate protein (MGP) species are refractory to vitaminA K treatment in a new case of Keutel syndrome. ( 21435166 )
2011
11
Keutel syndrome in a patient presenting with hearing loss. ( 21090163 )
2010
12
Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. ( 16328322 )
2006
13
Keutel syndrome with overlapping features of cutis laxa: a new variant. ( 16642510 )
2006
14
Tracheobronchial calcification associated with Keutel syndrome. ( 17290573 )
2006
15
A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. ( 15810001 )
2005
16
Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. ( 12612818 )
2003
17
Tracheobronchial stenosis in Keutel syndrome. ( 11405537 )
2001
18
Follow-up of an adult with Keutel syndrome. ( 10377017 )
1999
19
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. ( 9916809 )
1999
20
Picture of the month. Keutel syndrome. ( 10401814 )
1999
21
Keutel syndrome and miscarriages. ( 10096599 )
1999
22
Keutel syndrome: further characterization and review. ( 9674914 )
1998
23
The Keutel syndrome. Report of a case and review of the literature. ( 8414764 )
1993
24
Keutel syndrome: a report of four cases. ( 2515061 )
1989
25
Keutel syndrome: clinical report and literature review. ( 3717211 )
1986
26
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
(show top 50) (show all 58)
# 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.43delG (p.Val15Terfs) deletion Pathogenic rs730880321 GRCh38 Chromosome 12, 14885749: 14885749
3 MGP NM_001190839.2(MGP): c.137-2A> G single nucleotide variant Pathogenic rs112518413 GRCh37 Chromosome 12, 15037181: 15037181
4 MGP NM_001190839.2(MGP): c.137-2A> G single nucleotide variant Pathogenic rs112518413 GRCh38 Chromosome 12, 14884247: 14884247
5 MGP NM_001190839.2(MGP): c.162T> A (p.Tyr54Ter) single nucleotide variant Pathogenic rs730880322 GRCh37 Chromosome 12, 15037154: 15037154
6 MGP NM_001190839.2(MGP): c.162T> A (p.Tyr54Ter) single nucleotide variant Pathogenic rs730880322 GRCh38 Chromosome 12, 14884220: 14884220
7 MGP NM_000900.4(MGP): c.94+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111320759 GRCh37 Chromosome 12, 15037146: 15037146
8 MGP NM_000900.4(MGP): c.94+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs111320759 GRCh38 Chromosome 12, 14884212: 14884212
9 MGP NM_000900.4(MGP): c.23C> T (p.Ala8Val) single nucleotide variant Benign/Likely benign rs142330429 GRCh37 Chromosome 12, 15038703: 15038703
10 MGP NM_000900.4(MGP): c.23C> T (p.Ala8Val) single nucleotide variant Benign/Likely benign rs142330429 GRCh38 Chromosome 12, 14885769: 14885769
11 MGP NM_000900.4(MGP): c.304A> G (p.Thr102Ala) single nucleotide variant Benign rs4236 GRCh37 Chromosome 12, 15035081: 15035081
12 MGP NM_000900.4(MGP): c.304A> G (p.Thr102Ala) single nucleotide variant Benign rs4236 GRCh38 Chromosome 12, 14882147: 14882147
13 MGP NM_000900.4(MGP): c.*140T> C single nucleotide variant Uncertain significance rs148802642 GRCh38 Chromosome 12, 14881999: 14881999
14 MGP NM_000900.4(MGP): c.*140T> C single nucleotide variant Uncertain significance rs148802642 GRCh37 Chromosome 12, 15034933: 15034933
15 MGP NM_000900.4(MGP): c.-117C> T single nucleotide variant Uncertain significance rs569710471 GRCh38 Chromosome 12, 14885908: 14885908
16 MGP NM_000900.4(MGP): c.-117C> T single nucleotide variant Uncertain significance rs569710471 GRCh37 Chromosome 12, 15038842: 15038842
17 MGP NM_000900.4(MGP): c.*755G> T single nucleotide variant Likely benign rs142773584 GRCh37 Chromosome 12, 15034318: 15034318
18 MGP NM_000900.4(MGP): c.*755G> T single nucleotide variant Likely benign rs142773584 GRCh38 Chromosome 12, 14881384: 14881384
19 MGP NM_000900.4(MGP): c.*604A> G single nucleotide variant Uncertain significance rs114512785 GRCh38 Chromosome 12, 14881535: 14881535
20 MGP NM_000900.4(MGP): c.*604A> G single nucleotide variant Uncertain significance rs114512785 GRCh37 Chromosome 12, 15034469: 15034469
21 MGP NM_000900.4(MGP): c.*251T> C single nucleotide variant Uncertain significance rs886049105 GRCh38 Chromosome 12, 14881888: 14881888
22 MGP NM_000900.4(MGP): c.*251T> C single nucleotide variant Uncertain significance rs886049105 GRCh37 Chromosome 12, 15034822: 15034822
23 MGP NM_000900.4(MGP): c.234T> C (p.Leu78=) single nucleotide variant Uncertain significance rs149084241 GRCh38 Chromosome 12, 14882217: 14882217
24 MGP NM_000900.4(MGP): c.234T> C (p.Leu78=) single nucleotide variant Uncertain significance rs149084241 GRCh37 Chromosome 12, 15035151: 15035151
25 MGP NM_000900.4(MGP): c.207T> C (p.Asn69=) single nucleotide variant Uncertain significance rs186013880 GRCh38 Chromosome 12, 14882244: 14882244
26 MGP NM_000900.4(MGP): c.207T> C (p.Asn69=) single nucleotide variant Uncertain significance rs186013880 GRCh37 Chromosome 12, 15035178: 15035178
27 MGP NM_000900.4(MGP): c.62-9delT deletion Likely benign rs781035440 GRCh38 Chromosome 12, 14884254: 14884254
28 MGP NM_000900.4(MGP): c.62-9delT deletion Likely benign rs781035440 GRCh37 Chromosome 12, 15037188: 15037188
29 MGP NM_000900.4(MGP): c.46G> A (p.Val16Ile) single nucleotide variant Uncertain significance rs868750856 GRCh38 Chromosome 12, 14885746: 14885746
30 MGP NM_000900.4(MGP): c.46G> A (p.Val16Ile) single nucleotide variant Uncertain significance rs868750856 GRCh37 Chromosome 12, 15038680: 15038680
31 MGP NM_000900.4(MGP): c.-63G> A single nucleotide variant Benign rs1800801 GRCh38 Chromosome 12, 14885854: 14885854
32 MGP NM_000900.4(MGP): c.-63G> A single nucleotide variant Benign rs1800801 GRCh37 Chromosome 12, 15038788: 15038788
33 MGP NM_000900.4(MGP): c.*538C> G single nucleotide variant Uncertain significance rs139069321 GRCh38 Chromosome 12, 14881601: 14881601
34 MGP NM_000900.4(MGP): c.*538C> G single nucleotide variant Uncertain significance rs139069321 GRCh37 Chromosome 12, 15034535: 15034535
35 MGP NM_000900.4(MGP): c.*476T> C single nucleotide variant Uncertain significance rs184916517 GRCh38 Chromosome 12, 14881663: 14881663
36 MGP NM_000900.4(MGP): c.*476T> C single nucleotide variant Uncertain significance rs184916517 GRCh37 Chromosome 12, 15034597: 15034597
37 MGP NM_000900.4(MGP): c.*455delG deletion Uncertain significance rs886049103 GRCh38 Chromosome 12, 14881684: 14881684
38 MGP NM_000900.4(MGP): c.*455delG deletion Uncertain significance rs886049103 GRCh37 Chromosome 12, 15034618: 15034618
39 MGP NM_000900.4(MGP): c.-66C> A single nucleotide variant Uncertain significance rs150994762 GRCh38 Chromosome 12, 14885857: 14885857
40 MGP NM_000900.4(MGP): c.-66C> A single nucleotide variant Uncertain significance rs150994762 GRCh37 Chromosome 12, 15038791: 15038791
41 MGP NM_000900.4(MGP): c.*615A> G single nucleotide variant Likely benign rs34181533 GRCh37 Chromosome 12, 15034458: 15034458
42 MGP NM_000900.4(MGP): c.*615A> G single nucleotide variant Likely benign rs34181533 GRCh38 Chromosome 12, 14881524: 14881524
43 MGP NM_000900.4(MGP): c.*552A> T single nucleotide variant Benign rs1049897 GRCh38 Chromosome 12, 14881587: 14881587
44 MGP NM_000900.4(MGP): c.*552A> T single nucleotide variant Benign rs1049897 GRCh37 Chromosome 12, 15034521: 15034521
45 MGP NM_000900.4(MGP): c.*343G> A single nucleotide variant Likely benign rs35112962 GRCh38 Chromosome 12, 14881796: 14881796
46 MGP NM_000900.4(MGP): c.*343G> A single nucleotide variant Likely benign rs35112962 GRCh37 Chromosome 12, 15034730: 15034730
47 MGP NM_000900.4(MGP): c.*339T> C single nucleotide variant Likely benign rs150038879 GRCh38 Chromosome 12, 14881800: 14881800
48 MGP NM_000900.4(MGP): c.*339T> C single nucleotide variant Likely benign rs150038879 GRCh37 Chromosome 12, 15034734: 15034734
49 MGP NM_000900.4(MGP): c.*315dupA duplication Uncertain significance rs886049104 GRCh38 Chromosome 12, 14881824: 14881824
50 MGP NM_000900.4(MGP): c.*315dupA duplication Uncertain significance rs886049104 GRCh37 Chromosome 12, 15034758: 15034758

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 signaling receptor binding GO:0005102 8.62 BMP2 GLA

Sources for Keutel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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