MCID: SPN448
MIFTS: 47

Spondyloepimetaphyseal Dysplasia with Joint Laxity

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

Name: Spondyloepimetaphyseal Dysplasia with Joint Laxity 11 19 58 28 5 43 14
Semdjl 11 19
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type 58
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1 58
Dysplasia, Spondyloepimetaphyseal, with Joint Laxity 38
Spondyloepimetaphyseal Dysplasia Joint Laxity 19
Semdjl1 58
Semd-Jl 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Spondyloepimetaphyseal Dysplasia with Joint Laxity

GARD: 19 A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).

MalaCards based summary: Spondyloepimetaphyseal Dysplasia with Joint Laxity, also known as semdjl, is related to spondyloepimetaphyseal dysplasia with joint laxity, type 2 and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, spinal cord and skin, and related phenotypes are failure to thrive and abnormal facial shape

Orphanet: 58 A rare primary bone dysplasia characterized by short stature, joint laxity, vertebral anomalies, severe progressive spinal malalignment leading to spinal cord compression, progressive kyphoscoliosis, thoracic asymmetry, and elbow and foot deformities. Additional features include mild skin hyperelasticity, spatulate terminal phalanges, cleft palate and lip, structural cardiac malformations, and mild facial dysmorphism (oval face, prominent eyes with blue sclerae, and a long upper lip).

Disease Ontology: 11 A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility.

Related Diseases for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Diseases in the Spondyloepimetaphyseal Dysplasia with Joint Laxity family:

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3

Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 spondyloepimetaphyseal dysplasia with joint laxity, type 2 33.4 ROGDI KIF22
2 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 32.2 XYLT2 XYLT1 MIA2 CSGALNACT1 CHPF2 CHPF
3 spondyloepimetaphyseal dysplasia 31.5 KIF22 EXOC6B B4GALT7 B3GALT6
4 ehlers-danlos syndrome, spondylodysplastic type, 2 30.3 CHPF2 B4GALT7 B3GAT3 B3GALT6
5 scoliosis 30.3 XYLT1 TBX6 KIF22 EXOC6B
6 ehlers-danlos syndrome 29.9 XYLT1 SLC39A13 MIA2 CHST14 B4GALT7 B3GAT3
7 osteochondrodysplasia 29.9 XYLT2 XYLT1 SLC39A13 MIA2 KIF22 CSGALNACT1
8 larsen syndrome 29.6 XYLT1 CSGALNACT1 CHST14 CHPF2 B4GALT7 B3GAT3
9 spondyloepimetaphyseal dysplasia with joint laxity, type 3 12.0
10 spondyloepimetaphyseal dysplasia with multiple dislocations 11.7
11 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
12 renal hypodysplasia/aplasia 1 10.2
13 pierre robin syndrome 10.2
14 isolated growth hormone deficiency, type ia 10.2
15 spondyloepimetaphyseal dysplasia, sponastrime type 10.2
16 fanconi anemia, complementation group e 10.2
17 renal hypodysplasia/aplasia 3 10.2
18 seckel syndrome 10.2
19 brachydactyly 10.2
20 microcephaly 10.2
21 arthropathy 10.2
22 myopathy 10.2
23 connective tissue disease 10.2
24 osteoarthritis 10.2
25 hypermobile ehlers-danlos syndrome 10.2
26 hip subluxation 10.2
27 pectus carinatum 10.2
28 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 10.2 B4GALT7 B3GAT3
29 chromosome 16p11.2 deletion syndrome 10.2 PAGR1 C16orf54
30 desbuquois dysplasia 1 10.2 XYLT1 CSGALNACT1
31 breast pericanalicular fibroadenoma 10.1 CSGALNACT1 CHPF
32 angioid streaks 10.1 XYLT2 XYLT1
33 ehlers-danlos syndrome, spondylodysplastic type, 1 10.1 CHPF2 B4GALT7
34 mucopolysaccharidosis, type iiic 10.1 XYLT2 XYLT1
35 caspase 8 deficiency 10.0 CHST14 B4GALT7 B3GALT6
36 hypermobility syndrome 9.9 SLC39A13 CHST14 B4GALT7
37 radioulnar synostosis 9.9 XYLT1 SLC39A13 B4GALT7 B3GAT3 B3GALT6
38 ehlers-danlos syndrome, musculocontractural type, 2 9.9 CHST14 CHPF2
39 episodic kinesigenic dyskinesia 1 9.9 TLCD3B DOC2A C16orf54 ASPHD1
40 ehlers-danlos syndrome, musculocontractural type, 1 9.9 CHST14 CHPF2
41 schneckenbecken dysplasia 9.9 CSGALNACT1 CHPF2
42 collagen disease 9.9 SLC39A13 CHST14 B4GALT7 B3GALT6
43 geroderma osteodysplasticum 9.8 MIA2 CHST14 B4GALT7 B3GAT3 B3GALT6
44 benign familial infantile epilepsy 9.8 TLCD3B KIF22 DOC2A C16orf54 ASPHD1
45 brittle bone disorder 9.8 SLC39A13 MIA2 CHST14 B4GALT7 B3GALT6
46 spondylocostal dysostosis 5 9.6 TLCD3B TBX6 KIF22 DOC2A C16orf54 ASPHD1
47 larsen-like syndrome b3gat3 type 9.6 XYLT2 XYLT1 SLC39A13 CHST14 B4GALT7 B3GAT3
48 desbuquois dysplasia 9.6 XYLT2 XYLT1 CSGALNACT1 CHST14 B4GALT7 B3GAT3
49 temtamy preaxial brachydactyly syndrome 9.4 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF B4GALT7
50 spondyloepiphyseal dysplasia with congenital joint dislocations 9.3 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF B4GALT7

Graphical network of the top 20 diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:



Diseases related to Spondyloepimetaphyseal Dysplasia with Joint Laxity

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Human phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

58 30 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 abnormal facial shape 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001999
3 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
4 joint laxity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001388
5 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
6 hip dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001385
7 beaking of vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004568
8 kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002751
9 platyspondyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000926
10 hip dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002827
11 proptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000520
12 blue sclerae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000592
13 radioulnar dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0006439
14 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
15 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
16 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
17 pectus carinatum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000768
18 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
19 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
20 elbow flexion contracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002987
21 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001762
22 hyperextensible skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000974
23 ulnar deviation of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009465
24 abnormal heart morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001627
25 dislocated radial head 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003083
26 increased susceptibility to fractures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002659
27 hypoplastic ilia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000946
28 limited elbow extension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001377
29 flared metaphysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003015
30 long upper lip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011341
31 cardiorespiratory arrest 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006543
32 scoliosis 58 Frequent (79-30%)
33 abnormal vertebral morphology 58 Very frequent (99-80%)
34 abnormality of the metaphysis 58 Very frequent (99-80%)
35 abnormality of epiphysis morphology 58 Very frequent (99-80%)
36 abnormality of the elbow 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.1 B3GAT3 CHPF CHST14 CSGALNACT1 TBX6 XYLT1

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search Clinical Trials, NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cochrane evidence based reviews: spondyloepimetaphyseal dysplasia with joint laxity

Genetic Tests for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Genetic tests related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia with Joint Laxity 28

Anatomical Context for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Organs/tissues related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

MalaCards : Bone, Spinal Cord, Skin, Eye, Heart, Brain

Publications for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Articles related to Spondyloepimetaphyseal Dysplasia with Joint Laxity:

(show all 32)
# Title Authors PMID Year
1
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. 62 5
24766538 2015
2
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 62 5
23664117 2013
3
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 5
29931299 2018
4
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy. 62
36136119 2022
5
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes. 62
34159694 2021
6
Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. 62
30358852 2019
7
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations. 62
29443383 2018
8
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations. 62
29230159 2017
9
Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders. 62
28346368 2017
10
Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder. 62
27245527 2016
11
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation. 62
25256152 2015
12
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
13
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 62
25149931 2014
14
Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. 62
23665482 2013
15
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
16
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. 62
22152677 2011
17
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. 62
19277648 2009
18
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. 62
18841068 2008
19
A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome. 62
18256824 2008
20
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 62
12784311 2003
21
Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients. 62
12567412 2003
22
[Spondyloepimetaphyseal dysplasia-joint laxity]. 62
11528965 2001
23
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States. 62
10482874 1999
24
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. 62
8669438 1996
25
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. 62
8897044 1996
26
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient. 62
8588592 1995
27
Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl. 62
7567245 1995
28
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). 62
8182720 1994
29
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. 62
2036742 1991
30
The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. 62
6499247 1984
31
Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. 62
6435203 1984
32
Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder. 62
6635864 1983

Variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia with Joint Laxity:

5 (show top 50) (show all 145)
# 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.2T>C (p.Met1Thr) SNV Pathogenic
1452181 GRCh37: 1:1167660-1167660
GRCh38: 1:1232280-1232280
4 B3GALT6 NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys) SNV Likely Pathogenic
1067539 GRCh37: 1:1167660-1167660
GRCh38: 1:1232280-1232280
5 B3GALT6 NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) SNV Uncertain Significance
1520788 GRCh37: 1:1168541-1168541
GRCh38: 1:1233161-1233161
6 B3GALT6 NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) DUP Uncertain Significance
427130 rs533071750 GRCh37: 1:1168239-1168240
GRCh38: 1:1232859-1232860
7 B3GALT6 NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) SNV Uncertain Significance
624636 rs1314046622 GRCh37: 1:1168203-1168203
GRCh38: 1:1232823-1232823
8 B3GALT6 NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) MICROSAT Uncertain Significance
421834 rs755700896 GRCh37: 1:1168012-1168013
GRCh38: 1:1232632-1232633
9 B3GALT6 NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) SNV Uncertain Significance
453100 rs759357299 GRCh37: 1:1168476-1168476
GRCh38: 1:1233096-1233096
10 B3GALT6 NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) SNV Uncertain Significance
387709 rs1057522880 GRCh37: 1:1168025-1168025
GRCh38: 1:1232645-1232645
11 B3GALT6 NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) SNV Uncertain Significance
1211943 GRCh37: 1:1168241-1168241
GRCh38: 1:1232861-1232861
12 B3GALT6 NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) SNV Uncertain Significance
1356369 GRCh37: 1:1168473-1168473
GRCh38: 1:1233093-1233093
13 B3GALT6 NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) SNV Uncertain Significance
985304 rs1638553187 GRCh37: 1:1168116-1168116
GRCh38: 1:1232736-1232736
14 B3GALT6 NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) SNV Uncertain Significance
1204929 GRCh37: 1:1167931-1167931
GRCh38: 1:1232551-1232551
15 B3GALT6 NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) SNV Uncertain Significance
1382663 GRCh37: 1:1168012-1168012
GRCh38: 1:1232632-1232632
16 B3GALT6 NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) SNV Uncertain Significance
1362087 GRCh37: 1:1167886-1167886
GRCh38: 1:1232506-1232506
17 B3GALT6 NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) SNV Uncertain Significance
1419814 GRCh37: 1:1167806-1167806
GRCh38: 1:1232426-1232426
18 overlap with 76 genes NC_000001.10:g.(?_861322)_(3768971_?)del DEL Uncertain Significance
1412663 GRCh37: 1:861322-3768971
GRCh38:
19 B3GALT6 NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) SNV Uncertain Significance
1425625 GRCh37: 1:1168491-1168491
GRCh38: 1:1233111-1233111
20 B3GALT6 NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) SNV Uncertain Significance
1434609 GRCh37: 1:1167818-1167818
GRCh38: 1:1232438-1232438
21 B3GALT6 NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) SNV Uncertain Significance
1427535 GRCh37: 1:1168005-1168005
GRCh38: 1:1232625-1232625
22 B3GALT6 NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) DUP Uncertain Significance
1461952 GRCh37: 1:1167802-1167803
GRCh38: 1:1232422-1232423
23 B3GALT6 NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) SNV Uncertain Significance
1431232 GRCh37: 1:1167852-1167852
GRCh38: 1:1232472-1232472
24 B3GALT6 NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) MICROSAT Uncertain Significance
1472063 GRCh37: 1:1168186-1168187
GRCh38: 1:1232806-1232807
25 B3GALT6 NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) SNV Uncertain Significance
1475774 GRCh37: 1:1168514-1168514
GRCh38: 1:1233134-1233134
26 B3GALT6 NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) SNV Uncertain Significance
1476389 GRCh37: 1:1168239-1168239
GRCh38: 1:1232859-1232859
27 B3GALT6 NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) SNV Uncertain Significance
1484075 GRCh37: 1:1168281-1168281
GRCh38: 1:1232901-1232901
28 B3GALT6 NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) SNV Uncertain Significance
1507860 GRCh37: 1:1168529-1168529
GRCh38: 1:1233149-1233149
29 B3GALT6 NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) DEL Uncertain Significance
1498946 rs778123798 GRCh37: 1:1168168-1168175
GRCh38: 1:1232788-1232795
30 B3GALT6 NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) SNV Uncertain Significance
281706 rs778444849 GRCh37: 1:1168245-1168245
GRCh38: 1:1232865-1232865
31 B3GALT6 NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) SNV Uncertain Significance
1208606 GRCh37: 1:1168553-1168553
GRCh38: 1:1233173-1233173
32 B3GALT6 NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) SNV Uncertain Significance
986387 rs1638552845 GRCh37: 1:1168105-1168105
GRCh38: 1:1232725-1232725
33 B3GALT6 NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) SNV Uncertain Significance
1387107 GRCh37: 1:1168304-1168304
GRCh38: 1:1232924-1232924
34 B3GALT6 NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) SNV Uncertain Significance
1397919 GRCh37: 1:1168179-1168179
GRCh38: 1:1232799-1232799
35 B3GALT6 NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) DUP Uncertain Significance
1358020 GRCh37: 1:1167871-1167872
GRCh38: 1:1232491-1232492
36 B3GALT6 NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) SNV Uncertain Significance
1371061 GRCh37: 1:1168122-1168122
GRCh38: 1:1232742-1232742
37 B3GALT6 NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) SNV Uncertain Significance
1404166 GRCh37: 1:1168161-1168161
GRCh38: 1:1232781-1232781
38 B3GALT6 NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) DUP Uncertain Significance
1362915 GRCh37: 1:1167927-1167928
GRCh38: 1:1232547-1232548
39 B3GALT6 NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) SNV Uncertain Significance
1363546 GRCh37: 1:1168169-1168169
GRCh38: 1:1232789-1232789
40 B3GALT6 NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) SNV Uncertain Significance
1398493 GRCh37: 1:1168542-1168542
GRCh38: 1:1233162-1233162
41 B3GALT6 NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) SNV Uncertain Significance
1425377 GRCh37: 1:1167836-1167836
GRCh38: 1:1232456-1232456
42 B3GALT6 NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) SNV Uncertain Significance
1423921 GRCh37: 1:1167803-1167803
GRCh38: 1:1232423-1232423
43 B3GALT6 NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) SNV Uncertain Significance
1439809 GRCh37: 1:1168487-1168487
GRCh38: 1:1233107-1233107
44 B3GALT6 NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) DUP Uncertain Significance
1432546 GRCh37: 1:1168146-1168147
GRCh38: 1:1232766-1232767
45 B3GALT6 NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) SNV Uncertain Significance
1425911 GRCh37: 1:1168461-1168461
GRCh38: 1:1233081-1233081
46 B3GALT6 NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) SNV Uncertain Significance
1464788 GRCh37: 1:1167821-1167821
GRCh38: 1:1232441-1232441
47 B3GALT6 NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) SNV Uncertain Significance
1438621 GRCh37: 1:1167767-1167767
GRCh38: 1:1232387-1232387
48 B3GALT6 NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) MICROSAT Uncertain Significance
1461477 GRCh37: 1:1167683-1167684
GRCh38: 1:1232303-1232304
49 B3GALT6 NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) DUP Uncertain Significance
1473227 GRCh37: 1:1167680-1167681
GRCh38: 1:1232300-1232301
50 B3GALT6 NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) SNV Uncertain Significance
1488768 GRCh37: 1:1168047-1168047
GRCh38: 1:1232667-1232667

Expression for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity.

Pathways for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Pathways related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
2
Show member pathways
12.68 XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
3
Show member pathways
12.32 CHST14 B4GALT7 B3GAT3 B3GALT6
4
Show member pathways
12.01 XYLT2 XYLT1 CSGALNACT1 CHST14 CHPF2 CHPF
5 11.57 ASPHD1 C16orf54 DOC2A KIF22 PAGR1 TBX6
6 10.42 XYLT2 XYLT1 CSGALNACT1 CHST14 B4GALT7 B3GAT3

GO Terms for Spondyloepimetaphyseal Dysplasia with Joint Laxity

Cellular components related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.52 ASPHD1 B3GALT6 B3GAT3 B4GALT7 C16orf54 CHPF
2 membrane GO:0016020 10.52 ASPHD1 B3GALT6 B3GAT3 B4GALT7 C16orf54 CHPF
3 Golgi apparatus GO:0005794 10.03 B3GALT6 B3GAT3 B4GALT7 CHPF CHPF2 CHST14
4 Golgi membrane GO:0000139 9.66 XYLT2 XYLT1 TLCD3B SLC39A13 CSGALNACT1 CHST14
5 Golgi cisterna membrane GO:0032580 9.65 CSGALNACT1 CHPF2 CHPF B4GALT7 B3GALT6

Biological processes related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.97 XYLT2 XYLT1 B3GAT3 B3GALT6
2 glycosaminoglycan metabolic process GO:0030203 9.92 XYLT2 XYLT1 B4GALT7 B3GALT6
3 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.86 B3GAT3 CSGALNACT1 XYLT1 XYLT2
4 proteoglycan biosynthetic process GO:0030166 9.81 XYLT2 XYLT1 CSGALNACT1 B4GALT7 B3GALT6
5 heparin biosynthetic process GO:0030210 9.73 XYLT2 CSGALNACT1
6 dermatan sulfate proteoglycan biosynthetic process GO:0050651 9.71 CSGALNACT1 B3GAT3
7 glycosaminoglycan biosynthetic process GO:0006024 9.65 XYLT2 XYLT1 B4GALT7 B3GAT3 B3GALT6
8 chondroitin sulfate biosynthetic process GO:0030206 9.4 XYLT2 XYLT1 CSGALNACT1 CHPF2 CHPF B3GALT6

Molecular functions related to Spondyloepimetaphyseal Dysplasia with Joint Laxity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 XYLT2 XYLT1 TLCD3B CSGALNACT1 CHST14 CHPF2
2 acetylgalactosaminyltransferase activity GO:0008376 9.73 CSGALNACT1 CHPF2 CHPF
3 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity GO:0050510 9.67 CHPF CHPF2
4 protein xylosyltransferase activity GO:0030158 9.62 XYLT1 XYLT2
5 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity GO:0047238 9.43 CSGALNACT1 CHPF2 CHPF
6 glycosyltransferase activity GO:0016757 9.17 XYLT2 XYLT1 CHPF2 CHPF B4GALT7 B3GALT6

Sources for Spondyloepimetaphyseal Dysplasia with Joint Laxity

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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