KEDS
MCID: PLD003
MIFTS: 20

Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

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

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 25
Ehlers-Danlos Syndrome Type Vi 25
Ehlers-Danlos Syndrome Type 6 71
Lysyl-Hydroxylase Deficiency 25
Eds, Kyphoscoliotic Form 25
Eds Type Vi 25
Eds Vi 25
Keds 25

Characteristics:

GeneReviews:

25
Penetrance Penetrance for plod1-related keds is 100%.

Classifications:



External Ids:

UMLS 71 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 ehlers-danlos syndrome, kyphoscoliotic type, 1 and ehlers-danlos syndrome, kyphoscoliotic type, 2. An important gene associated with Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder.

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

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

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

Publications for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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

(show all 37)
# 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. 25
28617417 2018
2
The 2017 international classification of the Ehlers-Danlos syndromes. 25
28306229 2017
3
The Ehlers-Danlos syndromes, rare types. 25
28306225 2017
4
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 25
26373698 2016
5
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 25
22265013 2012
6
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. 25
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. 25
20842734 2010
8
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome. 25
19155940 2009
9
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. 25
18653826 2008
10
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. 25
18513683 2008
11
An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 25
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). 25
15979919 2005
13
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. 25
15854030 2005
14
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 25
15666309 2005
15
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 25
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. 25
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. 25
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. 25
10874315 2000
19
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management. 25
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. 25
9450904 1998
21
The surgical complications of Ehlers-Danlos syndrome. 25
8813174 1996
22
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. 25
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. 25
7977351 1994
24
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. 25
5016372 1972
25
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. 61
32174067 2020
26
Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis. 61
28757364 2017
27
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients. 61
21744491 2011
28
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. 61
20533528 2010
29
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. 61
20503305 2010
30
Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls. 61
16158441 2005
31
Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? 61
11446409 2001
32
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 61
20301635 2000
33
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). 61
9617436 1998
34
Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. 61
2504907 1989
35
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. 61
6089551 1984
36
Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. 61
416188 1978
37
Defects in the biochemistry of collagen in diseases of connective tissue. 61
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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