MCID: KYP005
MIFTS: 22

Kyphoscoliotic Ehlers-Danlos Syndrome

Categories: Bone 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 54 60
Ocular-Scoliotic Eds 54 60
Kyphoscoliotic Eds 54 60
Nevo Syndrome 54 74
Keds 54 60
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency 54
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency 54
Ehlers-Danlos Syndrome, Kyphoscoliosis Type 54
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 54
Ehlers-Danlos Syndrome, Oculoscoliotic Type 54
Ehlers-Danlos Syndrome Oculoscoliotic Type 54
Ehlers-Danlos Syndrome Kyphoscoliosis Type 38
Lysyl Hydroxylase-Deficient Eds 54
Ehlers-Danlos Syndrome Type 6a 54
Ehlers-Danlos Syndrome Type 6 60
Eds, Kyphoscoliotic Type 54
Eds, Oculoscoliotic Type 54
Cutis Hyperelastica 54
Keds-Plod1 54
Eds Via 54
Eds Vi 60

Classifications:



Summaries for Kyphoscoliotic Ehlers-Danlos Syndrome

NIH Rare Diseases : 54 Kyphoscoliotic Ehlers-Danlos syndrome is an inheritedconnective 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 ocular-scoliotic eds, is related to fkbp14 kyphoscoliotic ehlers-danlos syndrome and plod1-related kyphoscoliotic ehlers-danlos syndrome. Affiliated tissues include skin and bone, and related phenotypes are gait disturbance and scoliosis

Related Diseases for Kyphoscoliotic Ehlers-Danlos Syndrome

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:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 33 hallmark (90%) HP:0001288
2 scoliosis 33 hallmark (90%) HP:0002650
3 kyphosis 33 hallmark (90%) HP:0002808
4 neonatal hypotonia 33 hallmark (90%) HP:0001319
5 abnormality of metabolism/homeostasis 33 hallmark (90%) HP:0001939
6 joint hyperflexibility 33 hallmark (90%) HP:0005692
7 myopia 33 hallmark (90%) HP:0000545
8 atypical scarring of skin 33 hallmark (90%) HP:0000987
9 aortic dissection 33 hallmark (90%) HP:0002647
10 arterial dissection 33 hallmark (90%) HP:0005294
11 mitral valve prolapse 33 hallmark (90%) HP:0001634
12 generalized joint laxity 33 hallmark (90%) HP:0002761
13 inguinal hernia 33 frequent (33%) HP:0000023
14 visual impairment 33 frequent (33%) HP:0000505
15 retinopathy 33 frequent (33%) HP:0000488
16 abnormality of the hip bone 33 frequent (33%) HP:0003272
17 glaucoma 33 frequent (33%) HP:0000501
18 retinal detachment 33 frequent (33%) HP:0000541
19 subcutaneous hemorrhage 33 frequent (33%) HP:0001933
20 microcornea 33 frequent (33%) HP:0000482
21 hyperextensible skin 33 frequent (33%) HP:0000974
22 keratoconus 33 frequent (33%) HP:0000563
23 spontaneous rupture of the globe 33 frequent (33%) HP:0010727
24 corneal dystrophy 33 occasional (7.5%) HP:0001131
25 talipes equinovarus 33 occasional (7.5%) HP:0001762

Drugs & Therapeutics for Kyphoscoliotic Ehlers-Danlos Syndrome

Search Clinical Trials , 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:

42
Skin, Bone

Publications for Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Kyphoscoliotic Ehlers-Danlos Syndrome:

# Title Authors Year
1
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. ( 31063316 )
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. ( 28617417 )
2018
3
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. ( 29982180 )
2018

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
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10 dbSNP
11 DGIdb
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18 ExPASy
20 FMA
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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