EDSKSCL1
MCID: EHL078
MIFTS: 41

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 (EDSKSCL1)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

Name: Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 57 75
Nevo Syndrome 57 76 75 37 73
Ehlers-Danlos Syndrome, Type Vi 57 13 40
Eds Vi 57 75 55
Edskscl1 57 75
Eds6 57 75
Ehlers-Danlos Syndrome, Type Via, Formerly; Eds6a, Formerly 57
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type 57
Ehlers-Danlos Syndrome, Type Via, Formerly 57
Ehlers-Danlos Syndrome Oculoscoliotic Type 75
Ehlers-Danlos Syndrome Kyphoscoliotic Type 75
Ehlers-Danlos Syndrome, Type Vi; Eds6 57
Ehlers-Danlos Syndrome Type 6 73
Ehlers-Danlos Syndrome 6 75
Eds6a, Formerly 57
Eds Via 75
Eds6a 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ehlers-danlos syndrome, kyphoscoliotic type, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

OMIM : 57 The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The major characteristics of kyphoscoliotic-type EDS are severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe (Beighton et al., 1998). Nevo syndrome, previously thought to be a distinct entity, is identical to EDS type VI (Voermans et al., 2009). (225400)

MalaCards based summary : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1, also known as nevo syndrome, is related to ehlers-danlos syndrome, kyphoscoliotic type, 2 and plod1-related kyphoscoliotic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 is PLOD1 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 1), and among its related pathways/superpathways are Lysine degradation and Collagen chain trimerization. The drugs Immunosuppressive Agents and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone, and related phenotypes are joint dislocation and muscular hypotonia

UniProtKB/Swiss-Prot : 75 Ehlers-Danlos syndrome, kyphoscoliotic type, 1: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe.

Wikipedia : 76 Nevo Syndrome is a rare autosomal recessive disorder that usually begins during the later stages of... more...

Related Diseases for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

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 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.8
2 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.9
3 kyphoscoliotic ehlers-danlos syndrome 11.6
4 brittle cornea syndrome 1 11.1
5 ehlers-danlos syndrome 11.0
6 vasculitis 10.3
7 ascites, chylous 10.2
8 brittle cornea syndrome 2 10.2
9 sotos syndrome 1 10.0
10 hypotonia 10.0
11 bruck syndrome 9.8 PLOD1 PLOD2
12 connective tissue disease 9.7 PLOD1 PLOD2

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:



Diseases related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
kyphosis
congenital scoliosis, progressive

Head And Neck Nose:
depressed nasal bridge

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
microcornea
more
Skeletal Hands:
arachnodactyly

Prenatal Manifestations Movement:
decreased fetal movement

Prenatal Manifestations Delivery:
premature rupture of membranes

Muscle Soft Tissue:
hypotonia

Growth Other:
marfanoid habitus

Genitourinary Bladder:
bladder diverticula

Cardiovascular Heart:
cardiac failure (secondary to chest deformity)

Respiratory Lung:
recurrent episodes of pneumonia

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Feet:
pes planus
talipes equinovarus

Skeletal:
osteoporosis
joint laxity
recurrent joint dislocations

Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Skin Nails Hair Skin:
hyperextensible skin
easy bruisability
molluscoid pseudotumors
soft thin skin
moderate scarring
more
Cardiovascular Vascular:
arterial rupture

Neurologic Central Nervous System:
delayed motor development

Growth Height:
normal to tall stature

Head And Neck Teeth:
tooth crowding

Respiratory:
decreased pulmonary function (secondary to chest deformity)
respiratory insufficiency (secondary to chest deformity)

Laboratory Abnormalities:
lysyl hydroxylase deficiency
decreased dermal hydroxylysine content


Clinical features from OMIM:

225400

Human phenotypes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 joint dislocation 32 HP:0001373
2 muscular hypotonia 32 HP:0001252
3 respiratory insufficiency 32 HP:0002093
4 kyphosis 32 HP:0002808
5 inguinal hernia 32 HP:0000023
6 depressed nasal bridge 32 HP:0005280
7 pes planus 32 HP:0001763
8 blindness 32 HP:0000618
9 osteoporosis 32 HP:0000939
10 abnormality of metabolism/homeostasis 32 HP:0001939
11 epicanthus 32 HP:0000286
12 thin skin 32 HP:0000963
13 congestive heart failure 32 HP:0001635
14 myopia 32 HP:0000545
15 motor delay 32 HP:0001270
16 joint laxity 32 HP:0001388
17 talipes equinovarus 32 HP:0001762
18 glaucoma 32 HP:0000501
19 retinal detachment 32 HP:0000541
20 arachnodactyly 32 HP:0001166
21 disproportionate tall stature 32 HP:0001519
22 dental crowding 32 HP:0000678
23 gastrointestinal hemorrhage 32 HP:0002239
24 recurrent pneumonia 32 HP:0006532
25 bruising susceptibility 32 HP:0000978
26 bladder diverticulum 32 HP:0000015
27 decreased fetal movement 32 HP:0001558
28 microcornea 32 HP:0000482
29 blue sclerae 32 HP:0000592
30 hyperextensible skin 32 HP:0000974
31 keratoconus 32 HP:0000563
32 tall stature 32 HP:0000098
33 generalized hypotonia 32 HP:0001290
34 premature rupture of membranes 32 HP:0001788
35 palmoplantar cutis laxa 32 HP:0007517
36 soft skin 32 HP:0000977
37 arterial rupture 32 HP:0025019
38 molluscoid pseudotumors 32 HP:0000993
39 decreased pulmonary function 32 HP:0005952
40 progressive congenital scoliosis 32 HP:0008458

GenomeRNAi Phenotypes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.55 PLOD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 PLOD2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.55 PLOD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.55 PLOD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.55 PLOD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.55 PLOD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 PLOD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.55 PLOD2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.55 PLOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.55 PLOD1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.55 PLOD1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.55 PLOD1 PLOD2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.55 PLOD2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 PLOD1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.55 PLOD2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.55 PLOD1

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Drugs for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunosuppressive Agents Phase 4
2 Immunologic Factors Phase 4
3 Fingolimod Hydrochloride Phase 4
4
Acetylcholine Approved Phase 3 51-84-3 187
5 Acetylcholine Release Inhibitors Phase 3
6 Cholinergic Agents Phase 3
7 Peripheral Nervous System Agents Phase 3
8 onabotulinumtoxinA Phase 3
9 abobotulinumtoxinA Phase 3
10 Neurotransmitter Agents Phase 3
11 Neuromuscular Agents Phase 3
12 Botulinum Toxins Phase 3
13 Botulinum Toxins, Type A Phase 3
14
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
15
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
16 Micronutrients Not Applicable
17 Folate Not Applicable
18 Vitamin B2 Not Applicable
19 Vitamins Not Applicable
20 Photosensitizing Agents Not Applicable
21 Vitamin B9 Not Applicable
22 Dermatologic Agents Not Applicable
23 Trace Elements Not Applicable
24 Vitamin B Complex Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Long-term Follow-up of Fingolimod Phase II Study Patients Completed NCT02307838 Phase 4
2 " Treating MS Patients With Lower Extremity Spasticity Using Dysport" Recruiting NCT03585569 Phase 3
3 Riboflavin Corneal Crosslinking for Brittle Cornea Syndrome and Ehlers-Danlos Syndrome Type VI Unknown status NCT01307527 Not Applicable Riboflavin
4 The Impact of Exercise Training on Living Quality in Multiple Sclerosis Individuals Completed NCT03222596 Not Applicable
5 Impact of Exercise on "Invisible" Symptoms and Quality of Life in Multiple Sclerosis Individuals Enrolling by invitation NCT03768830 Not Applicable

Search NIH Clinical Center for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Genetic Tests for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Anatomical Context for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

MalaCards organs/tissues related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

41
Skin, Testes, Bone, Heart

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Articles related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

# Title Authors Year
1
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? ( 16329110 )
2006
2
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers- Danlos syndrome (EDS VIA). ( 15666309 )
2005
3
Nevo syndrome. ( 9508068 )
1998
4
Further delineation of Nevo syndrome. ( 9152832 )
1997
5
Nevo syndrome. ( 8574422 )
1995

Variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

75
# Symbol AA change Variation ID SNP ID
1 PLOD1 p.Trp612Cys VAR_006355 rs121913553
2 PLOD1 p.Gly678Arg VAR_006356 rs121913551
3 PLOD1 p.Trp446Gly VAR_023466
4 PLOD1 p.Ala667Thr VAR_023467 rs199730384
5 PLOD1 p.His706Arg VAR_023468

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1:

6 (show top 50) (show all 350)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLOD1 NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs121913550 GRCh37 Chromosome 1, 12018684: 12018684
2 PLOD1 NM_000302.3(PLOD1): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs121913550 GRCh38 Chromosome 1, 11958627: 11958627
3 PLOD1 NG_008159.1: g.(30134_30285)_(38781_39030)dup duplication Pathogenic GRCh38 Chromosome 1, 11959822: 11968718
4 PLOD1 NG_008159.1: g.(30134_30285)_(38781_39030)dup duplication Pathogenic GRCh37 Chromosome 1, 12019879: 12028775
5 PLOD1 NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121913551 GRCh37 Chromosome 1, 12034713: 12034713
6 PLOD1 NM_000302.3(PLOD1): c.2032G> A (p.Gly678Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121913551 GRCh38 Chromosome 1, 11974656: 11974656
7 PLOD1 NM_000302.3(PLOD1): c.1594_1596delGAG (p.Glu532del) deletion Pathogenic rs797044446 GRCh37 Chromosome 1, 12026317: 12026319
8 PLOD1 NM_000302.3(PLOD1): c.1594_1596delGAG (p.Glu532del) deletion Pathogenic rs797044446 GRCh38 Chromosome 1, 11966260: 11966262
9 PLOD1 NM_000302.3(PLOD1): c.1651-2delA deletion Pathogenic rs797044447 GRCh37 Chromosome 1, 12027042: 12027042
10 PLOD1 NM_000302.3(PLOD1): c.1651-2delA deletion Pathogenic rs797044447 GRCh38 Chromosome 1, 11966985: 11966985
11 PLOD1 NM_000302.3(PLOD1): c.1756_1902del deletion Pathogenic GRCh38 Chromosome 1, 11968235: 11971660
12 PLOD1 NM_000302.3(PLOD1): c.1756_1902del deletion Pathogenic GRCh37 Chromosome 1, 12028292: 12031717
13 PLOD1 NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs121913552 GRCh37 Chromosome 1, 12025599: 12025599
14 PLOD1 NM_000302.3(PLOD1): c.1533C> G (p.Tyr511Ter) single nucleotide variant Pathogenic rs121913552 GRCh38 Chromosome 1, 11965542: 11965542
15 PLOD1 NM_000302.3(PLOD1): c.579+1G> A single nucleotide variant Pathogenic rs797044448 GRCh37 Chromosome 1, 12012793: 12012793
16 PLOD1 NM_000302.3(PLOD1): c.579+1G> A single nucleotide variant Pathogenic rs797044448 GRCh38 Chromosome 1, 11952736: 11952736
17 PLOD1 NM_000302.3(PLOD1): c.1836G> C (p.Trp612Cys) single nucleotide variant Pathogenic rs121913553 GRCh37 Chromosome 1, 12030807: 12030807
18 PLOD1 NM_000302.3(PLOD1): c.1836G> C (p.Trp612Cys) single nucleotide variant Pathogenic rs121913553 GRCh38 Chromosome 1, 11970750: 11970750
19 PLOD1 NM_000302.3(PLOD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121913554 GRCh37 Chromosome 1, 12033034: 12033034
20 PLOD1 NM_000302.3(PLOD1): c.2008C> T (p.Arg670Ter) single nucleotide variant Pathogenic rs121913554 GRCh38 Chromosome 1, 11972977: 11972977
21 PLOD1 NM_000302.3(PLOD1): c.295G> A (p.Ala99Thr) single nucleotide variant Benign rs7551175 GRCh37 Chromosome 1, 12009956: 12009956
22 PLOD1 NM_000302.3(PLOD1): c.295G> A (p.Ala99Thr) single nucleotide variant Benign rs7551175 GRCh38 Chromosome 1, 11949899: 11949899
23 PLOD1 NM_000302.3(PLOD1): c.2075C> T (p.Pro692Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs557317492 GRCh37 Chromosome 1, 12034756: 12034756
24 PLOD1 NM_000302.3(PLOD1): c.2075C> T (p.Pro692Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs557317492 GRCh38 Chromosome 1, 11974699: 11974699
25 PLOD1 NM_000302.3(PLOD1): c.294C> T (p.Phe98=) single nucleotide variant Benign rs7529452 GRCh37 Chromosome 1, 12009955: 12009955
26 PLOD1 NM_000302.3(PLOD1): c.294C> T (p.Phe98=) single nucleotide variant Benign rs7529452 GRCh38 Chromosome 1, 11949898: 11949898
27 PLOD1 NM_000302.3(PLOD1): c.358G> T (p.Ala120Ser) single nucleotide variant Benign rs2273285 GRCh37 Chromosome 1, 12010469: 12010469
28 PLOD1 NM_000302.3(PLOD1): c.358G> T (p.Ala120Ser) single nucleotide variant Benign rs2273285 GRCh38 Chromosome 1, 11950412: 11950412
29 PLOD1 NM_000302.3(PLOD1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs1130529 GRCh37 Chromosome 1, 12024235: 12024235
30 PLOD1 NM_000302.3(PLOD1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs1130529 GRCh38 Chromosome 1, 11964178: 11964178
31 PLOD1 NM_000302.3(PLOD1): c.1534C> T (p.Arg512Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138490756 GRCh37 Chromosome 1, 12025600: 12025600
32 PLOD1 NM_000302.3(PLOD1): c.1534C> T (p.Arg512Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138490756 GRCh38 Chromosome 1, 11965543: 11965543
33 PLOD1 NM_000302.3(PLOD1): c.1632A> C (p.Ala544=) single nucleotide variant Benign/Likely benign rs2230898 GRCh37 Chromosome 1, 12026355: 12026355
34 PLOD1 NM_000302.3(PLOD1): c.1632A> C (p.Ala544=) single nucleotide variant Benign/Likely benign rs2230898 GRCh38 Chromosome 1, 11966298: 11966298
35 PLOD1 NM_000302.3(PLOD1): c.30G> C (p.Leu10=) single nucleotide variant Likely benign rs886039113 GRCh37 Chromosome 1, 11994866: 11994866
36 PLOD1 NM_000302.3(PLOD1): c.30G> C (p.Leu10=) single nucleotide variant Likely benign rs886039113 GRCh38 Chromosome 1, 11934809: 11934809
37 PLOD1 NM_000302.3(PLOD1): c.177C> T (p.Gly59=) single nucleotide variant Benign/Likely benign rs34032489 GRCh38 Chromosome 1, 11949781: 11949781
38 PLOD1 NM_000302.3(PLOD1): c.177C> T (p.Gly59=) single nucleotide variant Benign/Likely benign rs34032489 GRCh37 Chromosome 1, 12009838: 12009838
39 PLOD1 NM_000302.3(PLOD1): c.250G> A (p.Ala84Thr) single nucleotide variant Benign/Likely benign rs34878020 GRCh37 Chromosome 1, 12009911: 12009911
40 PLOD1 NM_000302.3(PLOD1): c.250G> A (p.Ala84Thr) single nucleotide variant Benign/Likely benign rs34878020 GRCh38 Chromosome 1, 11949854: 11949854
41 PLOD1 NM_000302.3(PLOD1): c.555G> T (p.Lys185Asn) single nucleotide variant Benign/Likely benign rs142978362 GRCh38 Chromosome 1, 11952711: 11952711
42 PLOD1 NM_000302.3(PLOD1): c.555G> T (p.Lys185Asn) single nucleotide variant Benign/Likely benign rs142978362 GRCh37 Chromosome 1, 12012768: 12012768
43 PLOD1 NM_000302.3(PLOD1): c.1141G> A (p.Val381Met) single nucleotide variant Benign/Likely benign rs2230896 GRCh38 Chromosome 1, 11963575: 11963575
44 PLOD1 NM_000302.3(PLOD1): c.1141G> A (p.Val381Met) single nucleotide variant Benign/Likely benign rs2230896 GRCh37 Chromosome 1, 12023632: 12023632
45 PLOD1 NM_000302.3(PLOD1): c.804C> T (p.Thr268=) single nucleotide variant Conflicting interpretations of pathogenicity rs140758113 GRCh38 Chromosome 1, 11957904: 11957904
46 PLOD1 NM_000302.3(PLOD1): c.804C> T (p.Thr268=) single nucleotide variant Conflicting interpretations of pathogenicity rs140758113 GRCh37 Chromosome 1, 12017961: 12017961
47 PLOD1 NM_000302.3(PLOD1): c.1140C> T (p.Ser380=) single nucleotide variant Likely benign rs200131516 GRCh38 Chromosome 1, 11963574: 11963574
48 PLOD1 NM_000302.3(PLOD1): c.1140C> T (p.Ser380=) single nucleotide variant Likely benign rs200131516 GRCh37 Chromosome 1, 12023631: 12023631
49 PLOD1 NM_000302.3(PLOD1): c.1927G> A (p.Val643Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149425237 GRCh38 Chromosome 1, 11972896: 11972896
50 PLOD1 NM_000302.3(PLOD1): c.1927G> A (p.Val643Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149425237 GRCh37 Chromosome 1, 12032953: 12032953

Expression for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1.

Pathways for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Pathways related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to KEGG:

37
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Cellular components related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 8.96 PLOD1 PLOD2
2 rough endoplasmic reticulum membrane GO:0030867 8.62 PLOD1 PLOD2

Biological processes related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 PLOD1 PLOD2
2 response to hypoxia GO:0001666 9.4 PLOD1 PLOD2
3 cellular protein modification process GO:0006464 9.37 PLOD1 PLOD2
4 collagen fibril organization GO:0030199 9.32 PLOD1 PLOD2
5 protein O-linked glycosylation GO:0006493 9.26 PLOD1 PLOD2
6 collagen metabolic process GO:0032963 9.16 PLOD1 PLOD2
7 peptidyl-lysine hydroxylation GO:0017185 8.96 PLOD1 PLOD2
8 hydroxylysine biosynthetic process GO:0046947 8.62 PLOD1 PLOD2

Molecular functions related to Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.4 PLOD1 PLOD2
2 iron ion binding GO:0005506 9.37 PLOD1 PLOD2
3 dioxygenase activity GO:0051213 9.32 PLOD1 PLOD2
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 PLOD1 PLOD2
5 L-ascorbic acid binding GO:0031418 9.16 PLOD1 PLOD2
6 procollagen glucosyltransferase activity GO:0033823 8.96 PLOD1 PLOD2
7 procollagen-lysine 5-dioxygenase activity GO:0008475 8.62 PLOD1 PLOD2

Sources for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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