MCID: FKB002
MIFTS: 9

Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Aliases & Classifications for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome:

Name: Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome 24
Keds-Fkbp14 24

Summaries for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards based summary : Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome, also known as keds-fkbp14, is related to ehlers-danlos syndrome and myopathy. An important gene associated with Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome is FKBP14 (FKBP Prolyl Isomerase 14). Affiliated tissues include skin.

GeneReviews: NBK541503

Related Diseases for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases related to Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 10.7
2 myopathy 10.7
3 hypermobile ehlers-danlos syndrome 10.7
4 kyphoscoliotic ehlers-danlos syndrome 10.7
5 hypotonia 10.7
6 cleft palate, isolated 10.5
7 pelvic organ prolapse 10.5
8 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.5
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
10 scoliosis 10.5
11 aortic aneurysm 10.5
12 refractive error 10.5

Graphical network of the top 20 diseases related to Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome:



Diseases related to Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Drugs & Therapeutics for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Genetic Tests for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Anatomical Context for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome:

41
Skin

Publications for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome:

(show all 15)
# Title Authors PMID Year
1
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 4
30561154 2019
2
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
3
The 2017 international classification of the Ehlers-Danlos syndromes. 4
28306229 2017
4
The Ehlers-Danlos syndromes, rare types. 4
28306225 2017
5
Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. 4
27905128 2017
6
Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. 4
27149304 2016
7
Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome. 4
24773188 2014
8
FKBP14-related Ehlers-Danlos syndrome: expansion of the phenotype to include vascular complications. 4
24677762 2014
9
A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis. 4
24821723 2014
10
Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs. 4
24272907 2014
11
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. 4
22265013 2012
12
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. 4
20825986 2010
13
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 38
31288483 2019
14
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 38
31063316 2019
15
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 38
31132235 2019

Variations for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Expression for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome.

Pathways for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

GO Terms for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

Sources for Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome

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