KEDS
MCID: KYP005
MIFTS: 34

Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

Categories: Bone diseases, Ear 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


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 skeletal muscle, and related phenotypes are joint hypermobility and neonatal hypotonia

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 60)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.8 PLOD1 FKBP14
2 hypermobile ehlers-danlos syndrome 30.7 PLOD1 FKBP14
3 scoliosis 29.3 PLOD1 PIEZO2 FKBP14
4 brittle cornea syndrome 2 29.2 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 joint laxity, short stature, and myopia 10.5
12 myopia 10.5
13 lateral sclerosis 10.4
14 stroke, ischemic 10.4
15 aortic dissection 10.4
16 vasculitis 10.4
17 cleft palate, isolated 10.4
18 pelvic organ prolapse 10.4
19 retinal detachment 10.4
20 orthostatic intolerance 10.4
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
22 inguinal hernia 10.4
23 aortic aneurysm 10.4
24 refractive error 10.4
25 eating disorder 10.3
26 overgrowth syndrome 10.3
27 dermatitis 10.3
28 amyotrophic lateral sclerosis 1 10.3
29 cutis laxa, autosomal dominant 1 10.3
30 intraocular pressure quantitative trait locus 10.3
31 corneal dystrophy 10.3
32 cutis laxa 10.3
33 atherosclerosis susceptibility 10.1
34 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.1
35 anorexia nervosa 10.1
36 bulimia nervosa 10.1
37 bartonellosis 10.1
38 spotted fever 10.1
39 cat-scratch disease 10.1
40 keratomalacia 10.1
41 lyme disease 10.1
42 theileriasis 10.1
43 reactive arthritis 10.1
44 alopecia 10.1
45 sotos syndrome 1 10.0
46 vesicoureteral reflux 1 10.0
47 cryptorchidism, unilateral or bilateral 10.0
48 simpson-golabi-behmel syndrome, type 1 10.0
49 patent ductus arteriosus 1 10.0
50 autosomal recessive disease 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 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
2 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
3 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
4 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
5 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
6 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
7 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
8 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
9 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
10 delayed gross motor development 58 31 frequent (33%) Frequent (79-30%) HP:0002194
11 congenital kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0008453
12 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
13 fragile skin 58 31 frequent (33%) Frequent (79-30%) HP:0001030
14 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
15 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
16 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
17 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
18 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
19 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
20 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
21 osteopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000938
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
23 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
24 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
25 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
26 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
27 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
28 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
29 disproportionate tall stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0001519
30 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
31 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
32 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
33 follicular hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007502
34 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
35 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
36 thin skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000963
37 spontaneous rupture of the globe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010727
38 poor wound healing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001058
39 arterial rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025019
40 antenatal intracerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007023
41 pectus carinatum 58 31 very rare (1%) Very rare (<4-1%) HP:0000768
42 short stature 58 31 very rare (1%) Very rare (<4-1%) HP:0004322
43 myopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0003198
44 osteoporosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000939
45 micrognathia 58 31 very rare (1%) Very rare (<4-1%) HP:0000347
46 bicuspid aortic valve 58 31 very rare (1%) Very rare (<4-1%) HP:0001647
47 conductive hearing impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0000405
48 long face 58 31 very rare (1%) Very rare (<4-1%) HP:0000276
49 bladder diverticulum 58 31 very rare (1%) Very rare (<4-1%) HP:0000015
50 hypotelorism 58 31 very rare (1%) Very rare (<4-1%) HP:0000601

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, Skeletal Muscle

Publications for Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Kyphoscoliotic Ehlers-Danlos Syndrome:

(show all 16)
# Title Authors PMID Year
1
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. 61
32174067 2020
2
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. 61
31609726 2020
3
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 61
31949249 2020
4
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 61
31288483 2019
5
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 61
31063316 2019
6
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 61
31132235 2019
7
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 61
30561154 2019
8
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. 61
29982180 2018
9
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
10
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 61
16329110 2006
11
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 61
15666309 2005
12
[Nevo syndrome]. 61
11528757 2001
13
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 61
20301635 2000
14
Nevo syndrome. 61
9508068 1998
15
Further delineation of Nevo syndrome. 61
9152832 1997
16
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

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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