EDSKSCL1
MCID: EHL078
MIFTS: 51

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

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle 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 72
Nevo Syndrome 57 73 72 36 70
Ehlers-Danlos Syndrome, Type Vi 57 13 6 39
Eds Vi 57 72 54
Edskscl1 57 72
Eds Via 58 72
Eds6 57 72
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Lysyl Hydroxylase 1 Deficiency 58
Ehlers-Danlos Syndrome, Type Via, Formerly; Eds6a, Formerly 57
Kyphoscoliotic Eds Due to Lysyl Hydroxylase 1 Deficiency 58
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type 57
Ehlers-Danlos Syndrome Kyphoscoliotic Type 1 12
Ehlers-Danlos Syndrome, Type Via, Formerly 57
Ehlers-Danlos Syndrome Oculoscoliotic Type 72
Ehlers-Danlos Syndrome Kyphoscoliotic Type 72
Ehlers-Danlos Syndrome, Type Vi; Eds6 57
Lysyl Hydroxylase-Deficient Eds 58
Ehlers-Danlos Syndrome Type 6a 58
Ehlers-Danlos Syndrome Type 6 70
Ehlers-Danlos Syndrome 6 72
Ocular-Scoliotic Eds 58
Cutis Hyperelastica 58
Eds6a, Formerly 57
Keds-Plod1 58
Eds6a 72

Characteristics:

Orphanet epidemiological data:

58
kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, kyphoscoliotic type, 1:
Inheritance autosomal recessive inheritance


Classifications:

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


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) (Updated 20-May-2021)

MalaCards based summary : Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1, also known as nevo syndrome, is related to ehlers-danlos syndrome and connective tissue disease. 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 Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and heart, and related phenotypes are inguinal hernia and pes planus

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has material basis in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36.

KEGG : 36 Nevo syndrome is a rare autosomal recessive disorder characterized by perinatal overgrowth, joint laxity, kyphosis, muscular hypotonia, wrist drop, spindle shaped fingers, and volar edema. It is an allelic disorder of Ehlers-Danlos syndrome kyphoscoliosis type.

UniProtKB/Swiss-Prot : 72 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 : 73 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 42)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome 31.1 PLOD2 PLOD1
2 connective tissue disease 30.0 PLOD2 PLOD1
3 scoliosis 30.0 PLOD2 PLOD1
4 ehlers-danlos syndrome, kyphoscoliotic type, 2 11.9
5 plod1-related kyphoscoliotic ehlers-danlos syndrome 11.5
6 kyphoscoliotic ehlers-danlos syndrome 10.7
7 hypotonia 10.6
8 hypermobile ehlers-danlos syndrome 10.6
9 autosomal recessive disease 10.4
10 brittle cornea syndrome 10.3
11 aortic dissection 10.2
12 vasculitis 10.2
13 lateral sclerosis 10.2
14 overgrowth syndrome 10.2
15 ascites, chylous 10.2
16 brittle cornea syndrome 1 10.2
17 ehlers-danlos syndrome, musculocontractural type, 1 10.2
18 orthostatic intolerance 10.2
19 brittle cornea syndrome 2 10.2
20 sclerocornea 10.2
21 cornea plana 10.2
22 keratoconus 10.2
23 mitral valve insufficiency 10.2
24 vitreous detachment 10.2
25 infantile hypotonia 10.2
26 amyotrophic lateral sclerosis 1 10.1
27 cutis laxa, autosomal dominant 1 10.1
28 intraocular pressure quantitative trait locus 10.1
29 corneal dystrophy 10.1
30 cutis laxa 10.1
31 neuromuscular disease 9.9
32 sotos syndrome 1 9.9
33 vesicoureteral reflux 1 9.9
34 cryptorchidism, unilateral or bilateral 9.9
35 simpson-golabi-behmel syndrome, type 1 9.9
36 patent ductus arteriosus 1 9.9
37 hydronephrosis 9.9
38 heart septal defect 9.9
39 atrial heart septal defect 9.9
40 bruck syndrome 9.7 PLOD2 PLOD1
41 brittle bone disorder 9.7 PLOD2 PLOD1
42 osteochondrodysplasia 9.6 PLOD2 PLOD1

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

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

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 31 Occasional (29-5%) HP:0000023
2 pes planus 58 31 Very rare (<4-1%) HP:0001763
3 congestive heart failure 58 31 Very rare (<4-1%) HP:0001635
4 osteoporosis 58 31 Very frequent (99-80%) HP:0000939
5 myopia 58 31 Occasional (29-5%) HP:0000545
6 talipes equinovarus 58 31 Frequent (79-30%) HP:0001762
7 disproportionate tall stature 58 31 Frequent (79-30%) HP:0001519
8 glaucoma 58 31 Occasional (29-5%) HP:0000501
9 retinal detachment 58 31 Occasional (29-5%) HP:0000541
10 joint dislocation 58 31 Frequent (79-30%) HP:0001373
11 recurrent pneumonia 58 31 Very rare (<4-1%) HP:0006532
12 bruising susceptibility 58 31 Very frequent (99-80%) HP:0000978
13 microcornea 58 31 Frequent (79-30%) HP:0000482
14 blue sclerae 58 31 Occasional (29-5%) HP:0000592
15 hyperextensible skin 58 31 Very frequent (99-80%) HP:0000974
16 arterial rupture 58 31 Occasional (29-5%) HP:0025019
17 kyphosis 31 HP:0002808
18 osteopenia 58 Very frequent (99-80%)
19 muscular hypotonia 58 Very frequent (99-80%)
20 muscle weakness 58 Frequent (79-30%)
21 respiratory insufficiency 31 HP:0002093
22 depressed nasal bridge 31 HP:0005280
23 umbilical hernia 58 Occasional (29-5%)
24 neonatal hypotonia 58 Very frequent (99-80%)
25 blindness 31 HP:0000618
26 decreased muscle mass 58 Occasional (29-5%)
27 strabismus 58 Very rare (<4-1%)
28 high, narrow palate 58 Very rare (<4-1%)
29 epicanthus 31 HP:0000286
30 pectus excavatum 58 Occasional (29-5%)
31 atypical scarring of skin 58 Very frequent (99-80%)
32 aortic dissection 58 Occasional (29-5%)
33 arterial dissection 58 Occasional (29-5%)
34 reduced tendon reflexes 58 Occasional (29-5%)
35 elbow flexion contracture 58 Very rare (<4-1%)
36 emg: myopathic abnormalities 58 Occasional (29-5%)
37 motor delay 31 HP:0001270
38 joint laxity 31 HP:0001388
39 mitral valve prolapse 58 Occasional (29-5%)
40 arachnodactyly 31 HP:0001166
41 dental crowding 31 HP:0000678
42 hip dislocation 58 Frequent (79-30%)
43 patellar dislocation 58 Occasional (29-5%)
44 joint hyperflexibility 58 Very frequent (99-80%)
45 gastrointestinal hemorrhage 31 HP:0002239
46 bladder diverticulum 31 HP:0000015
47 decreased fetal movement 31 HP:0001558
48 tall stature 31 HP:0000098
49 abnormal bleeding 58 Occasional (29-5%)
50 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Spine:
kyphosis
congenital scoliosis, progressive

Genitourinary External Genitalia Male:
inguinal hernia

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

Prenatal Manifestations Movement:
decreased fetal movement

Cardiovascular Vascular:
arterial rupture

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

Head And Neck Nose:
depressed nasal bridge

Skeletal Feet:
pes planus
talipes equinovarus

Skeletal:
osteoporosis
joint laxity
recurrent joint dislocations

Abdomen Gastrointestinal:
gastrointestinal hemorrhage

Skin Nails Hair Skin:
hyperextensible skin
molluscoid pseudotumors
easy bruisability
soft thin skin
moderate scarring
more
Prenatal Manifestations Delivery:
premature rupture of membranes

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 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.32 PLOD2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.32 PLOD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-129 9.32 PLOD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.32 PLOD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.32 PLOD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.32 PLOD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.32 PLOD1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-28 9.32 PLOD1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.32 PLOD1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.32 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 12)
# 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 Micronutrients
4 Trace Elements
5 Vitamin B9
6 Nutrients
7 Folate
8 Photosensitizing Agents
9 Vitamin B Complex
10 Vitamin B2
11 Dermatologic Agents
12 Vitamins

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 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:

40
Eye, Testes, Heart, Bone, Skin

Publications for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

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

(show top 50) (show all 58)
# Title Authors PMID Year
1
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). 54 57 61 6
15666309 2005
2
Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene. 54 57 6
9220536 1997
3
Further delineation of Nevo syndrome. 57 6 61
9152832 1997
4
Nevo syndrome. 61 6 57
8574422 1995
5
Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. 6 57
8533783 1995
6
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 57
7977351 1994
7
A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings. 6 57
8449506 1993
8
Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. 57 6
6089551 1984
9
Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. 57 6
416188 1978
10
Hydroxylysine-deficient skin collagen in a patient with a form of the Ehlers-Danlos syndrome. 6 57
4373475 1974
11
A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. 57 6
5016372 1972
12
Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 6 54
11001813 2000
13
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one family. 54 6
10874315 2000
14
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. 54 6
10329027 1999
15
Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis. 54 6
9893157 1999
16
Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C). 6 54
9617436 1998
17
Nevo syndrome. 57 61
9508068 1998
18
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 54
8981946 1997
19
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene. 6 54
8163671 1994
20
The 2017 international classification of the Ehlers-Danlos syndromes. 57
28306229 2017
21
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. 6
25637337 2015
22
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype. 6
25277362 2015
23
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. 6
21699693 2011
24
Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers-Danlos syndrome. 57
19760654 2009
25
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. 6
19320026 2009
26
A case of Ehlers Danlos syndrome type VI. 57
17100196 2006
27
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management. 57
9686670 1998
28
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). 57
9557891 1998
29
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
30
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI. 6
1345174 1992
31
Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. 57
2504907 1989
32
Ehlers-Danlos syndrome: a new oculo-scoliotic type with associated polyneuropathy? 57
2721020 1989
33
Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI. 6
3110540 1987
34
The Ehlers-Danlos syndrome and colonic perforation. Report of a case and physiologic assessment of underlying motility disorder. 57
4064860 1985
35
Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagen. 6
3931636 1985
36
Biochemical characterization of variants of the Ehlers-Danlos syndrome type VI. 57
6413223 1983
37
Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts. 6
222849 1979
38
Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant. 57
429005 1979
39
Evidence for autosomal recessive inheritance in cerebral gigantism. 57
4841084 1974
40
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. 57
4342967 1972
41
Crosslinking of collagen in a heritable disorder of connective tissue: Ehlers-Danlos syndrome. 57
5027136 1972
42
Serious ophthalmological complications in the Ehlers-Danlos syndrome. 57
5428655 1970
43
Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome? 61
16329110 2006
44
An Ehlers-Danlos syndrome type VIA patient with cystic malformations of the meninges. 54
16172044 2005
45
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). 54
15979919 2005
46
A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient. 54
15854030 2005
47
Heterogeneous basis of the type VIB form of Ehlers-Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation. 54
15523625 2004
48
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. 54
15589118 2004
49
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. 54
14679583 2004
50
Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome? 54
11446409 2001

Variations for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

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

6 (show top 50) (show all 318)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLOD1 NM_000302.4(PLOD1):c.579+1G>A SNV Pathogenic 14371 rs797044448 GRCh37: 1:12012793-12012793
GRCh38: 1:11952736-11952736
2 PLOD1 NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys) SNV Pathogenic 14372 rs121913553 GRCh37: 1:12030807-12030807
GRCh38: 1:11970750-11970750
3 PLOD1 NM_000302.3(PLOD1):c.1756_1902del Deletion Pathogenic 14369 GRCh37: 1:12028292-12031717
GRCh38: 1:11968235-11971660
4 PLOD1 NM_000302.4(PLOD1):c.1651-2del Deletion Pathogenic 14368 rs797044447 GRCh37: 1:12027042-12027042
GRCh38: 1:11966985-11966985
5 PLOD1 NM_000302.4(PLOD1):c.1594_1596del (p.Glu532del) Deletion Pathogenic 14367 rs797044446 GRCh37: 1:12026315-12026317
GRCh38: 1:11966258-11966260
6 PLOD1 NC_000001.11:g.(11959822_11959973)_(11968469_11968718)dup Duplication Pathogenic 14365 GRCh37: 1:12019879-12028775
GRCh38: 1:11959822-11968718
7 PLOD1 NM_000302.4(PLOD1):c.1651-2A>C SNV Pathogenic 548602 rs565513365 GRCh37: 1:12027042-12027042
GRCh38: 1:11966985-11966985
8 PLOD1 NM_000302.4(PLOD1):c.1795del (p.Ile599fs) Deletion Pathogenic 561086 rs1557500194 GRCh37: 1:12030766-12030766
GRCh38: 1:11970709-11970709
9 PLOD1 NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter) SNV Pathogenic 561087 rs1224538282 GRCh37: 1:12020706-12020706
GRCh38: 1:11960649-11960649
10 PLOD1 NC_000001.11:g.(?_11960646)_(11960767_?)del Deletion Pathogenic 584255 GRCh37: 1:12020703-12020824
GRCh38: 1:11960646-11960767
11 PLOD1 NC_000001.11:g.(?_11949763)_(11952745_?)del Deletion Pathogenic 645355 GRCh37: 1:12009820-12012802
GRCh38: 1:11949763-11952745
12 PLOD1 NC_000001.10:g.(?_12020693)_(12027158_?)dup Duplication Pathogenic 646377 GRCh37: 1:12020693-12027158
GRCh38: 1:11960636-11967101
13 PLOD1 NM_000302.4(PLOD1):c.1015C>T (p.Gln339Ter) SNV Pathogenic 648887 rs1569713366 GRCh37: 1:12020742-12020742
GRCh38: 1:11960685-11960685
14 PLOD1 NM_000302.4(PLOD1):c.1772del (p.Gly591fs) Deletion Pathogenic 843360 GRCh37: 1:12030741-12030741
GRCh38: 1:11970684-11970684
15 PLOD1 NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter) SNV Pathogenic 14364 rs121913550 GRCh37: 1:12018684-12018684
GRCh38: 1:11958627-11958627
16 PLOD1 NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) SNV Pathogenic 14370 rs121913552 GRCh37: 1:12025599-12025599
GRCh38: 1:11965542-11965542
17 PLOD1 NM_000302.4(PLOD1):c.1651-2A>G SNV Pathogenic 265507 rs565513365 GRCh37: 1:12027042-12027042
GRCh38: 1:11966985-11966985
18 PLOD1 NM_000302.4(PLOD1):c.1479dup (p.Met494fs) Duplication Pathogenic 801439 rs1569724692 GRCh37: 1:12025544-12025545
GRCh38: 1:11965487-11965488
19 PLOD1 NM_000302.4(PLOD1):c.327del (p.Arg111fs) Deletion Pathogenic 284903 rs886042976 GRCh37: 1:12010435-12010435
GRCh38: 1:11950378-11950378
20 PLOD1 NM_000302.4(PLOD1):c.1906C>T (p.Gln636Ter) SNV Pathogenic 659390 rs1439043436 GRCh37: 1:12032932-12032932
GRCh38: 1:11972875-11972875
21 PLOD1 NM_000302.4(PLOD1):c.1470+2T>C SNV Likely pathogenic 288528 rs886043927 GRCh37: 1:12024844-12024844
GRCh38: 1:11964787-11964787
22 PLOD1 NM_000302.4(PLOD1):c.1329-1G>T SNV Likely pathogenic 646544 rs112460511 GRCh37: 1:12024700-12024700
GRCh38: 1:11964643-11964643
23 PLOD1 NM_000302.4(PLOD1):c.2008C>T (p.Arg670Ter) SNV Likely pathogenic 14373 rs121913554 GRCh37: 1:12033034-12033034
GRCh38: 1:11972977-11972977
24 PLOD1 NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) SNV Likely pathogenic 242449 rs557317492 GRCh37: 1:12034756-12034756
GRCh38: 1:11974699-11974699
25 PLOD1 NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) SNV Conflicting interpretations of pathogenicity 14366 rs121913551 GRCh37: 1:12034713-12034713
GRCh38: 1:11974656-11974656
26 PLOD1 NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) SNV Conflicting interpretations of pathogenicity 292292 rs144439284 GRCh37: 1:12023673-12023673
GRCh38: 1:11963616-11963616
27 PLOD1 NM_000302.4(PLOD1):c.577A>C (p.Arg193=) SNV Conflicting interpretations of pathogenicity 292285 rs569590633 GRCh37: 1:12012790-12012790
GRCh38: 1:11952733-11952733
28 PLOD1 NM_000302.4(PLOD1):c.579+10A>G SNV Conflicting interpretations of pathogenicity 292286 rs538255620 GRCh37: 1:12012802-12012802
GRCh38: 1:11952745-11952745
29 PLOD1 NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) SNV Conflicting interpretations of pathogenicity 529357 rs142934642 GRCh37: 1:12025647-12025647
GRCh38: 1:11965590-11965590
30 PLOD1 NM_000302.4(PLOD1):c.804C>T (p.Thr268=) SNV Conflicting interpretations of pathogenicity 264284 rs140758113 GRCh37: 1:12017961-12017961
GRCh38: 1:11957904-11957904
31 PLOD1 NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) SNV Conflicting interpretations of pathogenicity 292291 rs763409574 GRCh37: 1:12023663-12023663
GRCh38: 1:11963606-11963606
32 PLOD1 NM_000302.4(PLOD1):c.897G>A (p.Pro299=) SNV Conflicting interpretations of pathogenicity 459834 rs199946373 GRCh37: 1:12018626-12018626
GRCh38: 1:11958569-11958569
33 PLOD1 NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) SNV Conflicting interpretations of pathogenicity 519563 rs11553676 GRCh37: 1:12024350-12024350
GRCh38: 1:11964293-11964293
34 PLOD1 NM_000302.4(PLOD1):c.303-10C>T SNV Conflicting interpretations of pathogenicity 529354 rs750987724 GRCh37: 1:12010404-12010404
GRCh38: 1:11950347-11950347
35 PLOD1 NM_000302.4(PLOD1):c.137G>A (p.Arg46His) SNV Conflicting interpretations of pathogenicity 440169 rs142710681 GRCh37: 1:12008093-12008093
GRCh38: 1:11948036-11948036
36 PLOD1 NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) SNV Conflicting interpretations of pathogenicity 292295 rs139869965 GRCh37: 1:12024800-12024800
GRCh38: 1:11964743-11964743
37 PLOD1 NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) SNV Conflicting interpretations of pathogenicity 292342 rs372579008 GRCh37: 1:12030789-12030789
GRCh38: 1:11970732-11970732
38 PLOD1 NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) SNV Conflicting interpretations of pathogenicity 255801 rs138490756 GRCh37: 1:12025600-12025600
GRCh38: 1:11965543-11965543
39 PLOD1 NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) SNV Conflicting interpretations of pathogenicity 263957 rs149425237 GRCh37: 1:12032953-12032953
GRCh38: 1:11972896-11972896
40 PLOD1 NM_000302.4(PLOD1):c.1203-3C>T SNV Conflicting interpretations of pathogenicity 459805 rs376288573 GRCh37: 1:12024229-12024229
GRCh38: 1:11964172-11964172
41 PLOD1 NM_000302.4(PLOD1):c.1990A>G (p.Ile664Val) SNV Uncertain significance 937609 GRCh37: 1:12033016-12033016
GRCh38: 1:11972959-11972959
42 PLOD1 NM_000302.4(PLOD1):c.948A>G (p.Lys316=) SNV Uncertain significance 876241 GRCh37: 1:12018677-12018677
GRCh38: 1:11958620-11958620
43 PLOD1 NM_000302.4(PLOD1):c.*461G>T SNV Uncertain significance 875538 GRCh37: 1:12035326-12035326
GRCh38: 1:11975269-11975269
44 PLOD1 NM_000302.4(PLOD1):c.1584+10G>A SNV Uncertain significance 875324 GRCh37: 1:12025660-12025660
GRCh38: 1:11965603-11965603
45 PLOD1 NM_000302.4(PLOD1):c.941C>T (p.Pro314Leu) SNV Uncertain significance 875281 GRCh37: 1:12018670-12018670
GRCh38: 1:11958613-11958613
46 PLOD1 NM_000302.4(PLOD1):c.813C>T (p.Asp271=) SNV Uncertain significance 745561 rs373471550 GRCh37: 1:12017970-12017970
GRCh38: 1:11957913-11957913
47 PLOD1 NM_000302.4(PLOD1):c.742-9C>G SNV Uncertain significance 761107 rs771746998 GRCh37: 1:12017890-12017890
GRCh38: 1:11957833-11957833
48 PLOD1 NM_000302.4(PLOD1):c.*128A>G SNV Uncertain significance 874612 GRCh37: 1:12034993-12034993
GRCh38: 1:11974936-11974936
49 PLOD1 NM_000302.4(PLOD1):c.472A>G (p.Ile158Val) SNV Uncertain significance 874361 GRCh37: 1:12012685-12012685
GRCh38: 1:11952628-11952628
50 PLOD1 NM_000302.4(PLOD1):c.1960A>T (p.Met654Leu) SNV Uncertain significance 426238 rs1085307517 GRCh37: 1:12032986-12032986
GRCh38: 1:11972929-11972929

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

72
# 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

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:

36
# Name Kegg Source Accession
1 Lysine degradation hsa00310

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 PLOD2 PLOD1
2
Show member pathways
11.61 PLOD2 PLOD1
3 10.42 PLOD2 PLOD1

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 rough endoplasmic reticulum membrane GO:0030867 8.62 PLOD2 PLOD1

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 9.32 PLOD2 PLOD1
2 protein phosphopantetheinylation GO:0018215 9.26 PLOD2 PLOD1
3 response to hypoxia GO:0001666 9.16 PLOD2 PLOD1
4 protein O-linked glycosylation GO:0006493 8.96 PLOD2 PLOD1
5 peptidyl-lysine hydroxylation GO:0017185 8.62 PLOD2 PLOD1

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

Sources for Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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