KEDS
MCID: KYP005
MIFTS: 25

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 53 59
Ocular-Scoliotic Eds 53 59
Kyphoscoliotic Eds 53 59
Nevo Syndrome 53 72
Keds 53 59
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency 53
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency 53
Ehlers-Danlos Syndrome, Kyphoscoliosis Type 53
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 53
Ehlers-Danlos Syndrome, Oculoscoliotic Type 53
Ehlers-Danlos Syndrome Oculoscoliotic Type 53
Ehlers-Danlos Syndrome Kyphoscoliosis Type 37
Lysyl Hydroxylase-Deficient Eds 53
Ehlers-Danlos Syndrome Type 6a 53
Ehlers-Danlos Syndrome Type 6 59
Eds, Kyphoscoliotic Type 53
Eds, Oculoscoliotic Type 53
Cutis Hyperelastica 53
Keds-Plod1 53
Eds Via 53
Eds Vi 59

Classifications:



External Ids:

KEGG 37 H02245
Orphanet 59 ORPHA536545
UMLS 72 C2936777

Summaries for Kyphoscoliotic Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 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 ocular-scoliotic 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 and bone.

KEGG : 37
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

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 30.3 PLOD1 FKBP14
2 hypermobile ehlers-danlos syndrome 29.8 PLOD1 FKBP14
3 fkbp14 kyphoscoliotic ehlers-danlos syndrome 12.8
4 plod1-related kyphoscoliotic ehlers-danlos syndrome 12.8
5 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.0
6 ehlers-danlos syndrome, kyphoscoliotic type, 1 12.0
7 hypotonia 10.7
8 myopathy 10.6
9 lateral sclerosis 10.4
10 stroke, ischemic 10.4
11 cerebrovascular disease 10.4
12 vasculitis 10.4
13 cleft palate, isolated 10.4
14 pelvic organ prolapse 10.4
15 retinal detachment 10.4
16 orthostatic intolerance 10.4
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
18 scoliosis 10.4
19 inguinal hernia 10.4
20 myopia 10.4
21 aortic aneurysm 10.4
22 refractive error 10.4
23 eating disorder 10.3
24 overgrowth syndrome 10.3
25 dermatitis 10.3
26 amyotrophic lateral sclerosis 1 10.2
27 cutis laxa, autosomal dominant 1 10.2
28 intraocular pressure quantitative trait locus 10.2
29 corneal dystrophy 10.2
30 cutis laxa 10.2
31 atherosclerosis susceptibility 10.1
32 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.1
33 anorexia nervosa 10.1
34 bulimia nervosa 10.1
35 bartonellosis 10.1
36 spotted fever 10.1
37 cat-scratch disease 10.1
38 keratomalacia 10.1
39 lyme disease 10.1
40 reactive arthritis 10.1
41 alopecia 10.1
42 sotos syndrome 1 10.0
43 vesicoureteral reflux 1 10.0
44 cryptorchidism, unilateral or bilateral 10.0
45 simpson-golabi-behmel syndrome, type 1 10.0
46 patent ductus arteriosus 1 10.0
47 autosomal recessive disease 10.0
48 hydronephrosis 10.0
49 heart septal defect 10.0
50 atrial 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

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:

41
Skin, Bone

Publications for Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Kyphoscoliotic Ehlers-Danlos Syndrome:

# Title Authors PMID Year
1
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 38
31288483 2019
2
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 38
31063316 2019
3
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 38
31132235 2019
4
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 38
30561154 2019
5
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. 38
29982180 2018
6
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. 38
28617417 2018
7
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 38
20301635 2000

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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