KEDS
MCID: KYP005
MIFTS: 39

Kyphoscoliotic Ehlers-Danlos Syndrome (KEDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 20 58
Kyphoscoliotic Eds 20 58
Nevo Syndrome 20 71
Keds 20 58
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency 20
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency 20
Ehlers-Danlos Syndrome, Kyphoscoliosis Type 20
Ehlers-Danlos Syndrome, Kyphoscoliotic Type 20
Ehlers-Danlos Syndrome, Oculoscoliotic Type 20
Ehlers-Danlos Syndrome Oculoscoliotic Type 20
Ehlers-Danlos Syndrome Kyphoscoliosis Type 36
Ehlers-Danlos Syndrome, Type Via 6
Lysyl Hydroxylase-Deficient Eds 20
Ehlers-Danlos Syndrome Type 6a 20
Ehlers-Danlos Syndrome Type 6 58
Eds, Kyphoscoliotic Type 20
Eds, Oculoscoliotic Type 20
Ocular-Scoliotic Eds 20
Cutis Hyperelastica 20
Keds-Plod1 20
Eds Via 20
Eds Vi 58

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Kyphoscoliotic Ehlers-Danlos Syndrome

GARD : 20 Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective 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 kyphoscoliotic eds, is related to ehlers-danlos syndrome and hypermobile ehlers-danlos syndrome. An important gene associated with Kyphoscoliotic Ehlers-Danlos Syndrome is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1). Affiliated tissues include skeletal muscle and heart, and related phenotypes are osteopenia and neonatal hypotonia

KEGG : 36 Ehlers-Danlos syndrome kyphoscoliosis type (EDSKSCL) is an autosomal recessive connective tissue disorder characterized by severe muscular hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin fragility. It is caused by a deficiency of collagen lysyl hydroxylase due to mutations in PLOD1. Recently, it has been reported that mutations in FKBP14 cause an Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH).

Related Diseases for Kyphoscoliotic Ehlers-Danlos Syndrome

Diseases in the Kyphoscoliotic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 30.5 PLOD1 FKBP14
2 hypermobile ehlers-danlos syndrome 30.5 PLOD1 FKBP14
3 scoliosis 29.7 PLOD1 PIEZO2 FKBP14
4 fkbp14 kyphoscoliotic ehlers-danlos syndrome 11.4
5 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.4
6 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.4
7 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.4
8 hypotonia 10.6
9 myopathy 10.4
10 inguinal hernia 10.4
11 myopia 10.4
12 stroke, ischemic 10.2
13 aortic dissection 10.2
14 vasculitis 10.2
15 lateral sclerosis 10.2
16 cleft palate, isolated 10.2
17 pelvic organ prolapse 10.2
18 retinal detachment 10.2
19 orthostatic intolerance 10.2
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
21 suppression amblyopia 10.2
22 amblyopia 10.2
23 aortic aneurysm 10.2
24 refractive error 10.2
25 overgrowth syndrome 10.2
26 eating disorder 10.1
27 strabismus 10.1
28 umbilical hernia 10.1
29 periventricular leukomalacia 10.1
30 mechanical strabismus 10.1
31 amyotrophic lateral sclerosis 1 10.1
32 cutis laxa, autosomal dominant 1 10.1
33 intraocular pressure quantitative trait locus 10.1
34 corneal dystrophy 10.1
35 cutis laxa 10.1
36 brittle cornea syndrome 1 9.9
37 brittle cornea syndrome 2 9.9
38 keratoconus 9.9
39 neuromuscular disease 9.9
40 brittle cornea syndrome 9.9
41 sotos syndrome 1 9.9
42 vesicoureteral reflux 1 9.9
43 cryptorchidism, unilateral or bilateral 9.9
44 simpson-golabi-behmel syndrome, type 1 9.9
45 patent ductus arteriosus 1 9.9
46 autosomal recessive disease 9.9
47 hydronephrosis 9.9
48 heart septal defect 9.9
49 atrial heart septal defect 9.9
50 connective tissue disease 9.9

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:

58 31 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 hallmark (90%) Occasional (29-5%) HP:0000938
2 neonatal hypotonia 58 31 hallmark (90%) Frequent (79-30%) HP:0001319
3 osteoporosis 58 31 hallmark (90%) Very rare (<4-1%) HP:0000939
4 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
5 bruising susceptibility 58 31 hallmark (90%) Frequent (79-30%) HP:0000978
6 hyperextensible skin 58 31 hallmark (90%) Frequent (79-30%) HP:0000974
7 fragile skin 58 31 hallmark (90%) Frequent (79-30%) HP:0001030
8 joint hyperflexibility 31 hallmark (90%) HP:0005692
9 abnormal enzyme/coenzyme activity 31 hallmark (90%) HP:0012379
10 thoracic kyphoscoliosis 31 hallmark (90%) HP:0005659
11 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
12 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
13 atypical scarring of skin 58 31 frequent (33%) Frequent (79-30%) HP:0000987
14 talipes equinovarus 58 31 frequent (33%) Occasional (29-5%) HP:0001762
15 disproportionate tall stature 58 31 frequent (33%) Occasional (29-5%) HP:0001519
16 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
17 microcornea 58 31 frequent (33%) Occasional (29-5%) HP:0000482
18 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
19 delayed gross motor development 58 31 occasional (7.5%) Frequent (79-30%) HP:0002194
20 congenital kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0008453
21 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
22 generalized joint laxity 31 frequent (33%) HP:0002761
23 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
24 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
25 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
26 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
27 pes planus 58 31 very rare (1%) Occasional (29-5%) HP:0001763
28 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
29 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
30 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
31 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
32 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
33 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
34 arachnodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001166
35 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
36 blue sclerae 58 31 occasional (7.5%) Occasional (29-5%) HP:0000592
37 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
38 follicular hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007502
39 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
40 aortic aneurysm 58 31 occasional (7.5%) Very rare (<4-1%) HP:0004942
41 difficulty walking 58 31 occasional (7.5%) Occasional (29-5%) HP:0002355
42 thin skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000963
43 poor wound healing 58 31 occasional (7.5%) Occasional (29-5%) HP:0001058
44 arterial rupture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025019
45 antenatal intracerebral hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007023
46 spontaneous rupture of the globe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010727
47 decreased muscle mass 31 occasional (7.5%) HP:0003199
48 aortic dissection 31 occasional (7.5%) HP:0002647
49 arterial dissection 31 occasional (7.5%) HP:0005294
50 reduced tendon reflexes 31 occasional (7.5%) HP:0001315

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:

40
Skeletal Muscle, Heart

Publications for Kyphoscoliotic Ehlers-Danlos Syndrome

Articles related to Kyphoscoliotic Ehlers-Danlos Syndrome:

(show all 35)
# Title Authors PMID Year
1
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 6 61
15666309 2005
2
Further delineation of Nevo syndrome. 6 61
9152832 1997
3
Nevo syndrome. 6 61
8574422 1995
4
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 6
11001813 2000
5
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 6
10329027 1999
6
Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. 6
9893157 1999
7
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). 6
9617436 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. 6
9450904 1998
9
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome. 6
8981946 1997
10
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. 6
8533783 1995
11
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. 6
7977351 1994
12
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. 6
8163671 1994
13
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. 6
8449506 1993
14
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. 6
1345174 1992
15
Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI. 6
3110540 1987
16
Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen. 6
3931636 1985
17
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. 6
6089551 1984
18
Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts. 6
222849 1979
19
Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. 6
416188 1978
20
Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. 6
4373475 1974
21
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. 6
5016372 1972
22
The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation. 61
33129265 2020
23
Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. 61
32174067 2020
24
A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. 61
31609726 2020
25
The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 61
31949249 2020
26
Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. 61
31288483 2019
27
FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report. 61
31063316 2019
28
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome 61
31132235 2019
29
Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. 61
30561154 2019
30
Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. 61
29982180 2018
31
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. 61
28617417 2018
32
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 61
16329110 2006
33
[Nevo syndrome]. 61
11528757 2001
34
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 61
20301635 2000
35
Nevo syndrome. 61
9508068 1998

Variations for Kyphoscoliotic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Kyphoscoliotic Ehlers-Danlos Syndrome:

6 (show top 50) (show all 293)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLOD1 NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) Deletion Pathogenic 14367 rs797044446 1:12026315-12026317 1:11966258-11966260
2 PLOD1 NM_000302.4(PLOD1):c.1651-2del Deletion Pathogenic 14368 rs797044447 1:12027042-12027042 1:11966985-11966985
3 PLOD1 NM_000302.3(PLOD1):c.1756_1902del Deletion Pathogenic 14369 1:12028292-12031717 1:11968235-11971660
4 PLOD1 NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) SNV Pathogenic 14370 rs121913552 1:12025599-12025599 1:11965542-11965542
5 PLOD1 NM_000302.4(PLOD1):c.579+1G>A SNV Pathogenic 14371 rs797044448 1:12012793-12012793 1:11952736-11952736
6 PLOD1 NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) SNV Pathogenic 14372 rs121913553 1:12030807-12030807 1:11970750-11970750
7 PLOD1 NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) SNV Pathogenic 14364 rs121913550 1:12018684-12018684 1:11958627-11958627
8 PLOD1 NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup Duplication Pathogenic 14365 1:12019879-12028775 1:11959822-11968718
9 PLOD1 NM_000302.4(PLOD1):c.1651-2A>C SNV Pathogenic 548602 rs565513365 1:12027042-12027042 1:11966985-11966985
10 PLOD1 NM_000302.4(PLOD1):c.1795del (p.Ile599fs) Deletion Pathogenic 561086 rs1557500194 1:12030766-12030766 1:11970709-11970709
11 PLOD1 NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) SNV Pathogenic 561087 rs1224538282 1:12020706-12020706 1:11960649-11960649
12 PLOD1 NC_000001.11:g.(?_11960646)_(11960767_?)del Deletion Pathogenic 584255 1:12020703-12020824 1:11960646-11960767
13 PLOD1 NC_000001.11:g.(?_11949763)_(11952745_?)del Deletion Pathogenic 645355 1:12009820-12012802 1:11949763-11952745
14 PLOD1 NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) SNV Pathogenic 648887 rs1569713366 1:12020742-12020742 1:11960685-11960685
15 PLOD1 NC_000001.10:g.(?_12020693)_(12027158_?)dup Duplication Pathogenic 646377 1:12020693-12027158 1:11960636-11967101
16 PLOD1 NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) SNV Pathogenic 659390 rs1439043436 1:12032932-12032932 1:11972875-11972875
17 PLOD1 NM_000302.4(PLOD1):c.327del (p.Arg111fs) Deletion Pathogenic 284903 rs886042976 1:12010435-12010435 1:11950378-11950378
18 PLOD1 NM_000302.4(PLOD1):c.1479dup (p.Met494fs) Duplication Pathogenic 801439 rs1569724692 1:12025544-12025545 1:11965487-11965488
19 PLOD1 NM_000302.4(PLOD1):c.1772del (p.Gly591fs) Deletion Pathogenic 843360 1:12030741-12030741 1:11970684-11970684
20 PLOD1 NM_000302.4(PLOD1):c.1651-2A>G SNV Pathogenic 265507 rs565513365 1:12027042-12027042 1:11966985-11966985
21 PLOD1 NM_000302.4(PLOD1):c.1470+2T>C SNV Likely pathogenic 288528 rs886043927 1:12024844-12024844 1:11964787-11964787
22 PLOD1 NM_000302.4(PLOD1):c.1329-1G>T SNV Likely pathogenic 646544 rs112460511 1:12024700-12024700 1:11964643-11964643
23 PLOD1 NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) SNV Likely pathogenic 14373 rs121913554 1:12033034-12033034 1:11972977-11972977
24 PLOD1 NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) SNV Likely pathogenic 242449 rs557317492 1:12034756-12034756 1:11974699-11974699
25 PLOD1 NM_000302.4(PLOD1):c.577A>C (p.Arg193=) SNV Conflicting interpretations of pathogenicity 292285 rs569590633 1:12012790-12012790 1:11952733-11952733
26 PLOD1 NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) SNV Conflicting interpretations of pathogenicity 14366 rs121913551 1:12034713-12034713 1:11974656-11974656
27 PLOD1 NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) SNV Conflicting interpretations of pathogenicity 263957 rs149425237 1:12032953-12032953 1:11972896-11972896
28 PLOD1 NM_000302.4(PLOD1):c.579+10A>G SNV Conflicting interpretations of pathogenicity 292286 rs538255620 1:12012802-12012802 1:11952745-11952745
29 PLOD1 NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) SNV Conflicting interpretations of pathogenicity 292292 rs144439284 1:12023673-12023673 1:11963616-11963616
30 PLOD1 NM_000302.4(PLOD1):c.804C>T (p.Thr268=) SNV Conflicting interpretations of pathogenicity 264284 rs140758113 1:12017961-12017961 1:11957904-11957904
31 PLOD1 NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) SNV Conflicting interpretations of pathogenicity 292342 rs372579008 1:12030789-12030789 1:11970732-11970732
32 PLOD1 NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) SNV Conflicting interpretations of pathogenicity 292291 rs763409574 1:12023663-12023663 1:11963606-11963606
33 PLOD1 NM_000302.4(PLOD1):c.897G>A (p.Pro299=) SNV Conflicting interpretations of pathogenicity 459834 rs199946373 1:12018626-12018626 1:11958569-11958569
34 PLOD1 NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) SNV Conflicting interpretations of pathogenicity 529357 rs142934642 1:12025647-12025647 1:11965590-11965590
35 PLOD1 NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) SNV Conflicting interpretations of pathogenicity 519563 rs11553676 1:12024350-12024350 1:11964293-11964293
36 PLOD1 NM_000302.4(PLOD1):c.303-10C>T SNV Conflicting interpretations of pathogenicity 529354 rs750987724 1:12010404-12010404 1:11950347-11950347
37 PLOD1 NM_000302.4(PLOD1):c.137G>A (p.Arg46His) SNV Conflicting interpretations of pathogenicity 440169 rs142710681 1:12008093-12008093 1:11948036-11948036
38 PLOD1 NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) SNV Conflicting interpretations of pathogenicity 255801 rs138490756 1:12025600-12025600 1:11965543-11965543
39 PLOD1 NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) SNV Conflicting interpretations of pathogenicity 292295 rs139869965 1:12024800-12024800 1:11964743-11964743
40 PLOD1 NM_000302.4(PLOD1):c.1203-3C>T SNV Conflicting interpretations of pathogenicity 459805 rs376288573 1:12024229-12024229 1:11964172-11964172
41 PLOD1 NM_000302.4(PLOD1):c.805G>A (p.Val269Met) SNV Uncertain significance 459829 rs145447578 1:12017962-12017962 1:11957905-11957905
42 PLOD1 NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp) SNV Uncertain significance 993527 1:11994840-11994840 1:11934783-11934783
43 LOC112577486 NM_000302.4(PLOD1):c.77-3403T>C SNV Uncertain significance 994332 1:12004630-12004630 1:11944573-11944573
44 PLOD1 NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys) SNV Uncertain significance 626255 rs1181531160 1:12017932-12017932 1:11957875-11957875
45 PLOD1 NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys) SNV Uncertain significance 459803 rs369263247 1:12008065-12008065 1:11948008-11948008
46 PLOD1 NM_000302.4(PLOD1):c.*461G>T SNV Uncertain significance 875538 1:12035326-12035326 1:11975269-11975269
47 PLOD1 NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) SNV Uncertain significance 874361 1:12012685-12012685 1:11952628-11952628
48 PLOD1 NM_000302.4(PLOD1):c.*128A>G SNV Uncertain significance 874612 1:12034993-12034993 1:11974936-11974936
49 PLOD1 NM_000302.4(PLOD1):c.742-9C>G SNV Uncertain significance 761107 rs771746998 1:12017890-12017890 1:11957833-11957833
50 PLOD1 NM_000302.4(PLOD1):c.813C>T (p.Asp271=) SNV Uncertain significance 745561 rs373471550 1:12017970-12017970 1:11957913-11957913

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

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