KEDS
MCID: KYP005
MIFTS: 31

Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Kyphoscoliotic Ehlers-Danlos Syndrome:

Name: Kyphoscoliotic Ehlers-Danlos Syndrome 52 58
Kyphoscoliotic Eds 52 58
Nevo Syndrome 52 71
Keds 52 58
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency 52
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency 52
Ehlers-Danlos Syndrome, Kyphoscoliosis Type 52
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 52
Ehlers-Danlos Syndrome, Oculoscoliotic Type 52
Ehlers-Danlos Syndrome Oculoscoliotic Type 52
Ehlers-Danlos Syndrome Kyphoscoliosis Type 36
Lysyl Hydroxylase-Deficient Eds 52
Ehlers-Danlos Syndrome Type 6a 52
Ehlers-Danlos Syndrome Type 6 58
Eds, Kyphoscoliotic Type 52
Eds, Oculoscoliotic Type 52
Ocular-Scoliotic Eds 52
Cutis Hyperelastica 52
Keds-Plod1 52
Eds Via 52
Eds Vi 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H02245
Orphanet 58 ORPHA536545
UMLS 71 C2936777

Summaries for Kyphoscoliotic Ehlers-Danlos Syndrome

NIH Rare Diseases : 52 Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen . Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility ; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis ); and fragility of the sclera . kyphoscoliosis EDS is caused by changes (mutations ) in the PLOD1 gene or the FKBP14 gene and it is inherited in an autosomal recessive manner. Treatment is focused on preventing serious complications and relieving associated signs and symptoms.

MalaCards based summary : Kyphoscoliotic Ehlers-Danlos Syndrome, also known as kyphoscoliotic eds, is related to ehlers-danlos syndrome and hypermobile ehlers-danlos syndrome. An important gene associated with Kyphoscoliotic Ehlers-Danlos Syndrome is FKBP14 (FKBP Prolyl Isomerase 14). The drugs Nicotine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are low-set ears and pectus excavatum

KEGG : 36 Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. Recently, it has been reported that mutations in FKBP14 cause an Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH).

Related Diseases for Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases in the Kyphoscoliotic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases related to Kyphoscoliotic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.4 PLOD1 FKBP14
2 hypermobile ehlers-danlos syndrome 30.3 PLOD1 FKBP14
3 scoliosis 29.4 PLOD1 FKBP14
4 brittle cornea syndrome 2 28.9 PLOD1 FKBP14
5 fkbp14 kyphoscoliotic ehlers-danlos syndrome 12.8
6 plod1-related kyphoscoliotic ehlers-danlos syndrome 12.8
7 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.0
8 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.0
9 hypotonia 10.7
10 myopathy 10.6
11 lateral sclerosis 10.4
12 stroke, ischemic 10.4
13 cerebrovascular disease 10.4
14 vasculitis 10.4
15 cleft palate, isolated 10.4
16 pelvic organ prolapse 10.4
17 retinal detachment 10.4
18 orthostatic intolerance 10.4
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 inguinal hernia 10.4
21 myopia 10.4
22 aortic aneurysm 10.4
23 refractive error 10.4
24 eating disorder 10.3
25 overgrowth syndrome 10.3
26 dermatitis 10.3
27 amyotrophic lateral sclerosis 1 10.2
28 cutis laxa, autosomal dominant 1 10.2
29 intraocular pressure quantitative trait locus 10.2
30 corneal dystrophy 10.2
31 cutis laxa 10.2
32 atherosclerosis susceptibility 10.1
33 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.1
34 anorexia nervosa 10.1
35 bulimia nervosa 10.1
36 bartonellosis 10.1
37 spotted fever 10.1
38 cat-scratch disease 10.1
39 keratomalacia 10.1
40 lyme disease 10.1
41 reactive arthritis 10.1
42 alopecia 10.1
43 sotos syndrome 1 10.0
44 vesicoureteral reflux 1 10.0
45 cryptorchidism, unilateral or bilateral 10.0
46 simpson-golabi-behmel syndrome, type 1 10.0
47 patent ductus arteriosus 1 10.0
48 autosomal recessive disease 10.0
49 hydronephrosis 10.0
50 heart septal defect 10.0

Graphical network of the top 20 diseases related to Kyphoscoliotic Ehlers-Danlos Syndrome:



Diseases related to Kyphoscoliotic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Kyphoscoliotic Ehlers-Danlos Syndrome

Human phenotypes related to Kyphoscoliotic Ehlers-Danlos Syndrome:

58 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 Frequent (79-30%)
2 pectus excavatum 58 Occasional (29-5%)
3 scoliosis 58 Very rare (<4-1%)
4 high palate 58 Occasional (29-5%)
5 osteopenia 58 Occasional (29-5%)
6 muscular hypotonia 58 Very frequent (99-80%)
7 muscle weakness 58 Occasional (29-5%)
8 hearing impairment 58 Occasional (29-5%)
9 inguinal hernia 58 Occasional (29-5%)
10 pectus carinatum 58 Very rare (<4-1%)
11 umbilical hernia 58 Occasional (29-5%)
12 pes planus 58 Occasional (29-5%)
13 short stature 58 Very rare (<4-1%)
14 feeding difficulties 58 Occasional (29-5%)
15 micrognathia 58 Very rare (<4-1%)
16 downslanted palpebral fissures 58 Frequent (79-30%)
17 neonatal hypotonia 58 Frequent (79-30%)
18 delayed gross motor development 58 Frequent (79-30%)
19 sensorineural hearing impairment 58 Occasional (29-5%)
20 myopathy 58 Very rare (<4-1%)
21 osteoporosis 58 Very rare (<4-1%)
22 skeletal muscle atrophy 58 Occasional (29-5%)
23 epicanthus 58 Frequent (79-30%)
24 thin skin 58 Occasional (29-5%)
25 specific learning disability 58 Occasional (29-5%)
26 myopia 58 Occasional (29-5%)
27 atypical scarring of skin 58 Frequent (79-30%)
28 bicuspid aortic valve 58 Very rare (<4-1%)
29 abnormality of the foot 58 Occasional (29-5%)
30 congenital hip dislocation 58 Occasional (29-5%)
31 talipes equinovarus 58 Occasional (29-5%)
32 kyphoscoliosis 58 Very frequent (99-80%)
33 hip dislocation 58 Occasional (29-5%)
34 synophrys 58 Frequent (79-30%)
35 arachnodactyly 58 Occasional (29-5%)
36 disproportionate tall stature 58 Occasional (29-5%)
37 joint hypermobility 58 Very frequent (99-80%)
38 conductive hearing impairment 58 Very rare (<4-1%)
39 long face 58 Very rare (<4-1%)
40 decreased fetal movement 58 Occasional (29-5%)
41 bruising susceptibility 58 Frequent (79-30%)
42 abnormality of the hand 58 Occasional (29-5%)
43 difficulty walking 58 Occasional (29-5%)
44 bladder diverticulum 58 Very rare (<4-1%)
45 hypotelorism 58 Very rare (<4-1%)
46 microcornea 58 Occasional (29-5%)
47 blue sclerae 58 Occasional (29-5%)
48 hyperextensible skin 58 Frequent (79-30%)
49 cerebral hemorrhage 58 Occasional (29-5%)
50 poor wound healing 58 Occasional (29-5%)

Drugs & Therapeutics for Kyphoscoliotic Ehlers-Danlos Syndrome

Drugs for Kyphoscoliotic Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved 54-11-5 942 89594
2 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Managing Weight in Overweight and At-Risk Children Completed NCT00433901
2 SAFARI-Return to Work: Promoting Health and Productivity in Workers With Common Mental Disorders Completed NCT01805583
3 The Effect of a Monetary Incentive Program and Episodic Future Thinking on Weight-Loss Recruiting NCT03731325

Search NIH Clinical Center for Kyphoscoliotic Ehlers-Danlos Syndrome

Genetic Tests for Kyphoscoliotic Ehlers-Danlos Syndrome

Anatomical Context for Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Kyphoscoliotic Ehlers-Danlos Syndrome:

40
Skin, Bone, Heart, Skeletal Muscle, Eye

Publications for Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Kyphoscoliotic Ehlers-Danlos Syndrome:

(show all 15)
# Title Authors PMID Year
1
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. 61
31609726 2020
2
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 61
31949249 2020
3
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 61
31288483 2019
4
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 61
31063316 2019
5
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 61
31132235 2019
6
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 61
30561154 2019
7
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. 61
29982180 2018
8
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. 61
28617417 2018
9
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 61
16329110 2006
10
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 61
15666309 2005
11
[Nevo syndrome]. 61
11528757 2001
12
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 61
20301635 2000
13
Nevo syndrome. 61
9508068 1998
14
Further delineation of Nevo syndrome. 61
9152832 1997
15
Nevo syndrome. 61
8574422 1995

Variations for Kyphoscoliotic Ehlers-Danlos Syndrome

Expression for Kyphoscoliotic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Kyphoscoliotic Ehlers-Danlos Syndrome.

Pathways for Kyphoscoliotic Ehlers-Danlos Syndrome

GO Terms for Kyphoscoliotic Ehlers-Danlos Syndrome

Cellular components related to Kyphoscoliotic Ehlers-Danlos Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 8.62 PLOD1 FKBP14

Sources for Kyphoscoliotic Ehlers-Danlos Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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