KEDS
MCID: PLD003
MIFTS: 22

Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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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 71
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%.

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, 2 and fkbp14 kyphoscoliotic ehlers-danlos syndrome. The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and bone.

GeneReviews: NBK1462

Related Diseases for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases in the Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 family:

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

Diseases related to Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.0
2 fkbp14 kyphoscoliotic ehlers-danlos syndrome 11.0
3 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.6
4 myopia 10.6
5 ehlers-danlos syndrome 10.6
6 connective tissue disease 10.6
7 hypermobile ehlers-danlos syndrome 10.6
8 hypotonia 10.6
9 aortic aneurysm, familial thoracic 4 10.5
10 aortic aneurysm, familial thoracic 1 10.5
11 retinal detachment 10.4
12 orthostatic intolerance 10.4
13 scoliosis 10.4
14 inguinal hernia 10.4
15 ascites, chylous 10.2
16 hypoascorbemia 10.2
17 ehlers-danlos syndrome, musculocontractural type, 1 10.2
18 sclerocornea 10.2
19 cornea plana 10.2
20 mitral valve insufficiency 10.2
21 collagen disease 10.2
22 vitreous detachment 10.2
23 glanders 10.1
24 eating disorder 10.1
25 bacteremia 2 10.1
26 brittle cornea syndrome 1 10.0
27 brittle cornea syndrome 2 10.0
28 keratoconus 10.0
29 neuromuscular disease 10.0
30 adult syndrome 9.9
31 spondyloarthropathy 1 9.9
32 anorexia nervosa 9.9
33 bulimia nervosa 9.9
34 spotted fever 9.9
35 cat-scratch disease 9.9
36 lyme disease 9.9
37 theileriasis 9.9
38 reactive arthritis 9.9
39 sudden arrhythmia death syndrome 9.9

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 11)
# 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 Folate
4 Vitamins
5 Vitamin B9
6 Trace Elements
7 Photosensitizing Agents
8
Vitamin B2
9 Vitamin B Complex
10 Dermatologic Agents
11 Micronutrients

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

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

MalaCards : Skin, Kidney, Bone, Eye

Publications for Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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

(show top 50) (show all 269)
# 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. 62 24
28617417 2018
2
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. 62 24
18513683 2008
3
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. 62 24
15854030 2005
4
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 62 24
15523625 2004
5
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. 62 24
14679583 2004
6
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 62 24
11001813 2000
7
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management. 62 24
9686670 1998
8
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. 62 24
9450904 1998
9
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. 62 24
8533783 1995
10
Variation among DNA banking consent forms: points for clinicians to bank on. 24
35834113 2022
11
The Ehlers-Danlos syndromes, rare types. 24
28306225 2017
12
The 2017 international classification of the Ehlers-Danlos syndromes. 24
28306229 2017
13
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 24
26373698 2016
14
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
15
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 24
22265013 2012
16
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. 24
21699693 2011
17
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. 24
20842734 2010
18
A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome. 24
19155940 2009
19
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. 24
18653826 2008
20
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 24
15979919 2005
21
An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 24
16172044 2005
22
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 24
15666309 2005
23
The surgical complications of Ehlers-Danlos syndrome. 24
8813174 1996
24
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. 24
7977351 1994
25
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. 24
5016372 1972
26
Possible role of Lipoptena fortisetosa (Diptera: Hippoboscidae) as a potential vector for Theileria spp. in captive Eld's deer in Khao Kheow open zoo, Thailand. 62
36341781 2023
27
A brief review on deer keds of the genus Lipoptena (Diptera: Hippoboscidae). 62
36473321 2022
28
Finding a suitable coat: The ecology of the invasive deer ked (Lipoptena cervi (Linnaeus, 1758); Diptera: Hippoboscidae), an ectoparasite of large mammals in the Czech Republic. 62
35751583 2022
29
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI. 62
36440736 2022
30
Mapping the global distribution of spotted fever group rickettsiae: a systematic review with modelling analysis. 62
36424337 2022
31
Limited detection of shared zoonotic pathogens in deer keds and blacklegged ticks co-parasitizing white-tailed deer in the eastern United States. 62
36286196 2022
32
The first detection of relapsing fever spirochete Borrelia miyamotoi in Ixodes ricinus ticks from the northeast Czech Republic. 62
36126494 2022
33
The New Haplotypes of Bartonella spp. and Borrelia burgdorferi Sensu Lato Identified in Lipoptena spp. (Diptera: Hippoboscidae) Collected in the Areas of North-Eastern Poland. 62
36297168 2022
34
Velocity correlated emission of secondary clusters by a single surface impact of a polyatomic ion: a new mechanism of cluster emission and subpicosecond probing of extreme spike conditions. 62
35959708 2022
35
Reversible Splenial Lesion Syndrome as a Challenging Casuistry. 62
36011475 2022
36
Symptom patterns in patients newly sick listed for common mental disorders and associations with work-related and socioeconomic factors: a cross-sectional study in Swedish primary care. 62
35803640 2022
37
Molecular Survey of Vector-Borne Pathogens in Ticks, Sheep Keds, and Domestic Animals from Ngawa, Southwest China. 62
35631127 2022
38
Development of two species of the Trypanosoma theileri complex in tabanids. 62
35313955 2022
39
Patterns of deer ked (Diptera: Hippoboscidae) and tick (Ixodida: Ixodidae) infestation on white-tailed deer (Odocoileus virginianus) in the eastern United States. 62
35057829 2022
40
Trypanosomes of the Trypanosoma theileri Group: Phylogeny and New Potential Vectors. 62
35208749 2022
41
Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome. 62
35252061 2022
42
Two novel variants in PLOD1 causing hydrocephalus in female newborn with kyphoscoliotic Ehlers-Danlos syndrome. 62
34161861 2021
43
Distribution of Deer Keds (Diptera: Hippoboscidae) in Free-Living Cervids of the Tuscan-Emilian Apennines, Central Italy, and Establishment of the Allochthonous Ectoparasite Lipoptena fortisetosa. 62
34679816 2021
44
Transmission of 'Candidatus Anaplasma camelii' to mice and rabbits by camel-specific keds, Hippobosca camelina. 62
34398891 2021
45
Energy partitioning and spin-orbit effects in the photodissociation of higher chloroalkanes. 62
34169306 2021
46
Associations between antidepressant therapy, work ability, and sick leave for patients with common mental disorders within a two-year perspective - A longitudinal observational cohort study in Swedish primary care. 62
34113733 2021
47
Molecular Characterization of Lipoptenafortisetosa from Environmental Samples Collected in North-Eastern Poland. 62
33921225 2021
48
Rickettsiae in red fox (Vulpes vulpes), marbled polecat (Vormela peregusna) and their ticks in northwestern China. 62
33874985 2021
49
Molecular Detection of Selected Pathogens with Zoonotic Potential in Deer Keds (Lipoptena fortisetosa). 62
33801932 2021
50
Prevalence of exhaustion symptoms and associations with school level, length of work experience and gender: a nationwide cross-sectional study of Swedish principals. 62
33568106 2021

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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