SEMDJL1
MCID: SPN253
MIFTS: 44

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)

Categories: Bone diseases, Genetic diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 57 11 28 5
Semdjl1 57 11 73
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 11 14
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures 73
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type 73
Semdjl-Beighton Type 73
Semdjl 57

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
common in afrikaan population, south africa
death in first-second decade of life secondary to cardio-respiratory compromise


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

OMIM®: 57 Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). (271640) (Updated 08-Dec-2022)

MalaCards based summary: Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia and ehlers-danlos syndrome. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, heart and spinal cord, and related phenotypes are carpal synostosis and high palate

UniProtKB/Swiss-Prot: 73 A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.

Disease Ontology: 11 A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has material basis in homozygous or compound heterozygous mutation in B3GALT6 on chromosome 1p36.33.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia 30.9 B4GALT7 B3GALT6
2 ehlers-danlos syndrome 30.3 XYLT1 MIA2 B4GALT7 B3GAT3 B3GALT6
3 spondyloepimetaphyseal dysplasia with joint laxity 29.5 XYLT2 XYLT1 MIA2 MGAT2 CSGALNACT1 CHPF2
4 osteochondrodysplasia 29.4 XYLT2 XYLT1 MIA2 CSGALNACT1 B4GALT7 B3GAT3
5 ehlers-danlos syndrome, spondylodysplastic type, 2 29.2 PXYLP1 MGAT2 EXTL1 CHPF2 B4GALT7 B3GAT3
6 spondyloepimetaphyseal dysplasia with joint laxity, type 2 11.0
7 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.0
8 renal hypodysplasia/aplasia 1 10.4
9 pierre robin syndrome 10.4
10 renal hypodysplasia/aplasia 3 10.4
11 connective tissue disease 10.4
12 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 10.2 B4GALT7 B3GAT3
13 caspase 8 deficiency 10.1 B4GALT7 B3GALT6
14 ehlers-danlos syndrome, spondylodysplastic type, 1 10.1 CHPF2 B4GALT7
15 angioid streaks 10.1 XYLT2 XYLT1
16 mucopolysaccharidosis, type iiic 10.1 XYLT2 XYLT1
17 scoliosis 10.1
18 desbuquois dysplasia 1 10.1 XYLT1 CSGALNACT1
19 breast pericanalicular fibroadenoma 10.1 CSGALNACT1 CHPF
20 brittle bone disorder 10.0 MIA2 B4GALT7 B3GALT6
21 collagen disease 10.0 B4GALT7 B3GALT6
22 ehlers-danlos syndrome, musculocontractural type, 1 10.0 MGAT2 CHPF2
23 anemia, congenital dyserythropoietic, type ii 9.9 MIA2 MGAT2
24 schwartz-jampel syndrome, type 1 9.9 MGAT2 CHPF2
25 brachydactyly 9.9
26 hypermobile ehlers-danlos syndrome 9.9
27 pectus carinatum 9.9
28 spondyloepimetaphyseal dysplasia with multiple dislocations 9.9
29 geroderma osteodysplasticum 9.9 MIA2 B4GALT7 B3GAT3 B3GALT6
30 urofacial syndrome 1 9.9 EXTL1 CHPF2
31 radioulnar synostosis 9.9 XYLT1 B4GALT7 B3GAT3 B3GALT6
32 schneckenbecken dysplasia 9.9 CSGALNACT1 CHPF2
33 mucopolysaccharidosis, type iiia 9.8 XYLT2 XYLT1
34 larsen-like syndrome b3gat3 type 9.7 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6
35 larsen syndrome 9.5 XYLT1 CSGALNACT1 CHPF2 B4GALT7 B3GAT3 B3GALT6
36 ehlers-danlos syndrome, musculocontractural type, 2 9.4 PXYLP1 MGAT2 EXTL1 CHPF2
37 temtamy preaxial brachydactyly syndrome 9.2 XYLT1 EXTL1 CSGALNACT1 CHPF2 CHPF B4GALT7
38 desbuquois dysplasia 9.1 XYLT2 XYLT1 CSGALNACT1 B4GALT7 B3GNT8 B3GAT3
39 spondyloepiphyseal dysplasia with congenital joint dislocations 8.4 XYLT1 PXYLP1 MGAT2 EXTL1 CSGALNACT1 CHPF2

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

30 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carpal synostosis 30 Occasional (7.5%) HP:0009702
2 high palate 30 Very rare (1%) HP:0000218
3 pes planus 30 Very rare (1%) HP:0001763
4 prominent forehead 30 Very rare (1%) HP:0011220
5 genu valgum 30 Very rare (1%) HP:0002857
6 cleft palate 30 Very rare (1%) HP:0000175
7 flat face 30 Very rare (1%) HP:0012368
8 atrial septal defect 30 Very rare (1%) HP:0001631
9 platyspondyly 30 Very rare (1%) HP:0000926
10 proptosis 30 Very rare (1%) HP:0000520
11 blue sclerae 30 Very rare (1%) HP:0000592
12 severe short stature 30 Very rare (1%) HP:0003510
13 large iliac wing 30 Very rare (1%) HP:0008818
14 short neck 30 HP:0000470
15 hypotonia 30 HP:0001252
16 flexion contracture 30 HP:0001371
17 epiphyseal dysplasia 30 HP:0002656
18 ovoid vertebral bodies 30 HP:0003300
19 metatarsus adductus 30 HP:0001840
20 osteoporosis 30 HP:0000939
21 micrognathia 30 HP:0000347
22 myopia 30 HP:0000545
23 bicuspid aortic valve 30 HP:0001647
24 slender long bone 30 HP:0003100
25 joint laxity 30 HP:0001388
26 talipes equinovarus 30 HP:0001762
27 kyphoscoliosis 30 HP:0002751
28 mitral regurgitation 30 HP:0001653
29 ectopia lentis 30 HP:0001083
30 long philtrum 30 HP:0000343
31 sparse scalp hair 30 HP:0002209
32 hip dislocation 30 HP:0002827
33 malar flattening 30 HP:0000272
34 ventricular septal defect 30 HP:0001629
35 hallux valgus 30 HP:0001822
36 coxa valga 30 HP:0002673
37 decreased body weight 30 HP:0004325
38 hyperextensible skin 30 HP:0000974
39 midface retrusion 30 HP:0011800
40 short metacarpal 30 HP:0010049
41 dislocated radial head 30 HP:0003083
42 generalized hypotonia 30 HP:0001290
43 11 pairs of ribs 30 HP:0000878
44 short long bone 30 HP:0003026
45 radial bowing 30 HP:0002986
46 short nail 30 HP:0001799
47 irregular vertebral endplates 30 HP:0003301
48 spinal cord compression 30 HP:0002176
49 short femoral neck 30 HP:0100864
50 radial head subluxation 30 HP:0003048

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
progressive kyphoscoliosis
platyspondyly (childhood)
ovoid vertebrae (infancy)
irregular endplates (childhood)
more
Neurologic Central Nervous System:
hypotonia
spinal cord compression
paraplegia

Head And Neck Face:
prominent forehead
micrognathia
oval face
flat midface

Head And Neck Eyes:
myopia
proptosis
prominent eyes
lens dislocation
blue sclera
more
Head And Neck Mouth:
long philtrum
long upper lip
cleft palate (31% of patients)
high-arched palate (12% of patients)

Skeletal Pelvis:
hip dislocation
coxa valga
hip subluxation
hypoplastic iliac body
short femoral necks
more
Skeletal Limbs:
radial bowing
radial head subluxation
metaphyseal flaring
radial head dislocation
wide metaphyses
more
Skeletal Hands:
short metacarpals
advanced carpal ossification
hypermobile digits
spatulate terminal phalanges (especially thumbs)
hand contracture (rare)
more
Growth Weight:
low weight

Skin Nails Hair Nails:
foreshortened nails

Head And Neck Neck:
short neck

Skeletal Feet:
pes planus
metatarsus adductus
talipes equinovarus
hallux valgus

Skeletal:
osteoporosis
joint laxity
joint dislocation
spondyloepimetaphyseal dysplasia
joint contractures
more
Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
mitral insufficiency

Skin Nails Hair Hair:
sparse scalp hair

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs
cupped ribs
anterior flaring of ribs

Skin Nails Hair Skin:
soft, doughy skin
skin fragility
atrophic scarring
mild skin hyperextensibility
palmar wrinkling

Growth Height:
dwarfism

Chest External Features:
thoracic asymmetry

Clinical features from OMIM®:

271640 (Updated 08-Dec-2022)

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 28 B3GALT6

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

MalaCards : Bone, Heart, Spinal Cord, Skin

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

(show all 28)
# Title Authors PMID Year
1
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 62 57 5
23664117 2013
2
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 62 57
12784311 2003
3
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. 62 57
10482874 1999
4
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. 62 57
8669438 1996
5
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. 62 57
8588592 1995
6
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 62 57
8182720 1994
7
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. 62 57
2036742 1991
8
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 62 57
6499247 1984
9
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. 62 57
6435203 1984
10
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. 62 57
6635864 1983
11
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. 57
23664118 2013
12
Nosology and classification of genetic skeletal disorders: 2006 revision. 57
17120245 2007
13
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations. 57
9678701 1998
14
A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? 57
3681904 1987
15
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. 57
7209574 1980
16
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. 62
34159694 2021
17
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 62
30358852 2019
18
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 62
29230159 2017
19
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 62
27245527 2016
20
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 62
24766538 2015
21
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. 62
28649518 2015
22
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 62
25149931 2014
23
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 62
22152677 2011
24
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. 62
22152678 2011
25
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 62
19277648 2009
26
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. 62
18256824 2008
27
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. 62
8897044 1996
28
Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl. 62
7567245 1995

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

5 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GALT6 NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) SNV Pathogenic
60484 rs786200938 GRCh37: 1:1167659-1167659
GRCh38: 1:1232279-1232279
2 B3GALT6 NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) SNV Pathogenic
60489 rs397514720 GRCh37: 1:1167858-1167858
GRCh38: 1:1232478-1232478
3 B3GALT6 NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) SNV Pathogenic
522415 rs1553151294 GRCh37: 1:1168214-1168214
GRCh38: 1:1232834-1232834
4 B3GALT6 NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser) SNV Pathogenic
60487 rs786200939 GRCh37: 1:1168557-1168557
GRCh38: 1:1233177-1233177
5 B3GALT6 NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly) SNV Pathogenic
60488 rs397514719 GRCh37: 1:1167851-1167851
GRCh38: 1:1232471-1232471
6 B3GALT6 NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn) SNV Pathogenic
60486 rs397514718 GRCh37: 1:1168124-1168124
GRCh38: 1:1232744-1232744
7 B3GALT6 NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys) SNV Pathogenic
60485 rs397514717 GRCh37: 1:1168352-1168352
GRCh38: 1:1232972-1232972
8 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) DEL Uncertain Significance
541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
9 B3GALT6 NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) SNV Uncertain Significance
568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
10 overlap with 3 genes NC_000001.10:g.(?_1146915)_(1168668_?)dup DUP Uncertain Significance
1020063 GRCh37: 1:1146915-1168668
GRCh38:
11 B3GALT6 NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) SNV Uncertain Significance
986387 rs1638552845 GRCh37: 1:1168105-1168105
GRCh38: 1:1232725-1232725
12 B3GALT6 NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) SNV Uncertain Significance
1691282 GRCh37: 1:1168407-1168407
GRCh38: 1:1233027-1233027
13 B3GALT6 NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) DUP Uncertain Significance
427130 rs533071750 GRCh37: 1:1168239-1168240
GRCh38: 1:1232859-1232860
14 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain Significance
568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
15 B3GALT6 NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) SNV Uncertain Significance
800197 rs892958562 GRCh37: 1:1167768-1167768
GRCh38: 1:1232388-1232388
16 B3GALT6 NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) SNV Uncertain Significance
283597 rs201547600 GRCh37: 1:1168511-1168511
GRCh38: 1:1233131-1233131
17 B3GALT6 NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) SNV Uncertain Significance
1436880 GRCh37: 1:1168178-1168178
GRCh38: 1:1232798-1232798
18 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain Significance
429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
19 B3GALT6 NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) SNV Uncertain Significance
450501 rs900539403 GRCh37: 1:1167693-1167693
GRCh38: 1:1232313-1232313
20 B3GALT6 NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) SNV Uncertain Significance
623665 rs1199531500 GRCh37: 1:1167971-1167971
GRCh38: 1:1232591-1232591

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures:

73
# Symbol AA change Variation ID SNP ID
1 B3GALT6 p.Ser65Gly VAR_070133 rs397514719
2 B3GALT6 p.Pro67Leu VAR_070134 rs397514720
3 B3GALT6 p.Asp156Asn VAR_070136 rs397514718
4 B3GALT6 p.Asp207His VAR_070137 rs397514723
5 B3GALT6 p.Gly217Ser VAR_070138 rs397514724
6 B3GALT6 p.Arg232Cys VAR_070139 rs397514717
7 B3GALT6 p.Cys300Ser VAR_070140 rs786200939
8 B3GALT6 p.Thr79Ala VAR_084154
9 B3GALT6 p.Phe186Leu VAR_084157 rs1553151294
10 B3GALT6 p.Arg256Trp VAR_084159

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Pathways related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B4GALT7
2
Show member pathways
12.53 XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B4GALT7
3
Show member pathways
12.27 MGAT2 B4GALT7 B3GAT3 B3GALT6
4
Show member pathways
11.96 XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B4GALT7
5 10.36 XYLT2 XYLT1 CSGALNACT1 B4GALT7 B3GAT3 B3GALT6

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.76 B3GALT6 B3GAT3 B3GNT8 B4GALT7 CHPF CHPF2
2 membrane GO:0016021 10.76 B3GALT6 B3GAT3 B3GNT8 B4GALT7 CHPF CHPF2
3 Golgi apparatus GO:0005794 9.91 B3GALT6 B3GAT3 B3GNT8 B4GALT7 CHPF CHPF2
4 Golgi cisterna membrane GO:0032580 9.85 B3GALT6 B4GALT7 CHPF CHPF2 CSGALNACT1
5 Golgi membrane GO:0000139 9.66 XYLT2 XYLT1 PXYLP1 MGAT2 CSGALNACT1 CHPF2

Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 10.02 MGAT2 EXTL1 B4GALT7 B3GNT8 B3GAT3 B3GALT6
2 heparan sulfate proteoglycan biosynthetic process GO:0015012 10.01 XYLT2 XYLT1 B3GAT3 B3GALT6
3 glycosaminoglycan metabolic process GO:0030203 9.92 XYLT2 XYLT1 B4GALT7 B3GALT6
4 proteoglycan biosynthetic process GO:0030166 9.91 B3GALT6 B4GALT7 CSGALNACT1 XYLT1 XYLT2
5 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.85 XYLT2 XYLT1 PXYLP1 CSGALNACT1 B3GAT3
6 heparin biosynthetic process GO:0030210 9.76 XYLT2 CSGALNACT1
7 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.73 CSGALNACT1 B3GAT3
8 glycosaminoglycan biosynthetic process GO:0006024 9.73 XYLT2 XYLT1 PXYLP1 B4GALT7 B3GAT3 B3GALT6
9 chondroitin sulfate biosynthetic process GO:0030206 9.4 XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B3GALT6

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 manganese ion binding GO:0030145 9.91 XYLT2 MGAT2 B4GALT7
2 glucuronosyltransferase activity GO:0015020 9.85 EXTL1 CSGALNACT1 B3GAT3
3 UDP-glycosyltransferase activity GO:0008194 9.78 B3GNT8 B3GALT6
4 acetylgalactosaminyltransferase activity GO:0008376 9.73 CHPF CHPF2 CSGALNACT1
5 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.71 CHPF2 CHPF
6 transferase activity GO:0016740 9.7 XYLT2 XYLT1 MGAT2 EXTL1 CSGALNACT1 CHPF2
7 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.63 CSGALNACT1 CHPF2 CHPF
8 protein xylosyltransferase activity GO:0030158 9.62 XYLT2 XYLT1
9 hexosyltransferase activity GO:0016758 9.46 B3GNT8 B3GALT6
10 glycosyltransferase activity GO:0016757 9.4 XYLT2 XYLT1 MGAT2 EXTL1 CHPF2 CHPF

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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