KEDS
MCID: PLD003
MIFTS: 19

Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

Aliases & Classifications for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome:

Name: Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 24
Ehlers-Danlos Syndrome Type Vi 24
Ehlers-Danlos Syndrome Type 6 72
Lysyl-Hydroxylase Deficiency 24
Eds, Kyphoscoliotic Form 24
Eds Type Vi 24
Eds Vi 24
Keds 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance for plod1-related keds is 100%.

External Ids:

UMLS 72 C0268342

Summaries for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards based summary : Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome type vi, is related to retinal detachment and ehlers-danlos syndrome, kyphoscoliotic type, 1. An important gene associated with Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). The drugs Nicotine and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and bone.

GeneReviews: NBK1462

Related Diseases for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Graphical network of the top 20 diseases related to Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome:



Diseases related to Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Drugs & Therapeutics for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Drugs for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotine Approved 54-11-5 942 89594
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
4 Micronutrients
5 Trace Elements
6 Vitamins
7 Vitamin B9
8 Folate
9 Nutrients
10 Vitamin B Complex
11 Vitamin B2
12 Dermatologic Agents
13 Photosensitizing Agents
14 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Riboflavin
2 Managing Weight in Overweight and At-Risk Children Completed NCT00433901
3 SAFARI-Return to Work: Promoting Health and Productivity in Workers With Common Mental Disorders Completed NCT01805583
4 The Effect of a Monetary Incentive Program and Episodic Future Thinking on Weight-Loss Recruiting NCT03731325

Search NIH Clinical Center for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Genetic Tests for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Anatomical Context for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome:

41
Skin, Bone

Publications for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome:

(show all 36)
# Title Authors PMID Year
1
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. 4
28617417 2018
2
The Ehlers-Danlos syndromes, rare types. 4
28306225 2017
3
The 2017 international classification of the Ehlers-Danlos syndromes. 4
28306229 2017
4
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 4
26373698 2016
5
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 4
22265013 2012
6
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. 4
21699693 2011
7
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 4
20842734 2010
8
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome. 4
19155940 2009
9
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. 4
18653826 2008
10
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. 4
18513683 2008
11
An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 4
16172044 2005
12
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 4
15979919 2005
13
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. 4
15854030 2005
14
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 4
15666309 2005
15
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 4
15523625 2004
16
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. 4
14679583 2004
17
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 4
11001813 2000
18
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 4
10874315 2000
19
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management. 4
9686670 1998
20
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene. 4
9450904 1998
21
The surgical complications of Ehlers-Danlos syndrome. 4
8813174 1996
22
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. 4
8533783 1995
23
Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. 4
7977351 1994
24
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. 4
5016372 1972
25
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis. 38
28757364 2017
26
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. 38
21744491 2011
27
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 38
20533528 2010
28
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 38
20503305 2010
29
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 38
16158441 2005
30
Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? 38
11446409 2001
31
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 38
20301635 2000
32
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). 38
9617436 1998
33
Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. 38
2504907 1989
34
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. 38
6089551 1984
35
Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. 38
416188 1978
36
Defects in the biochemistry of collagen in diseases of connective tissue. 38
1448 1976

Variations for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Expression for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome.

Pathways for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

GO Terms for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Sources for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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