EDSSPD2
MCID: EHL085
MIFTS: 46

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 (EDSSPD2)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

MalaCards integrated aliases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

Name: Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 57 72
Ehlers-Danlos Syndrome, Progeroid Type, 2 12 72 29 6 70
Ehlers-Danlos Syndrome Spondylodysplastic Type 2 12 15
Ehlers-Danlos Syndrome Progeroid Type 12 6
Edsspd2 57 72
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly; Edsp2, Formerly 57
B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome 58
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 12
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly 57
Syndrome, Ehlers-Danlos, Spondylodysplastic, Type 2 39
Defective Biosynthesis of Proteodermatan Sulfate 12
Ehlers-Danlos Syndrome Progeroid Type 2 58
B3galt6-Related Spondylodysplastic Eds 58
Ehlers-Danlos Syndrome, Progeroid Form 70
Beta3galt6-Deficient Eds 58
B3galt6-Related Speds 58
Xgpt Deficiency 12
Edsp2, Formerly 57
Speds-B3galt6 58
Edsp2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ehlers-danlos syndrome, spondylodysplastic type, 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

UniProtKB/Swiss-Prot : 72 Ehlers-Danlos syndrome, spondylodysplastic type, 2: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD2 is an autosomal recessive form characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin.

MalaCards based summary : Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2, also known as ehlers-danlos syndrome, progeroid type, 2, is related to spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, spondylodysplastic type, 1. An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Transport to the Golgi and subsequent modification. Related phenotypes are frontal bossing and osteopenia

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has material basis in compound heterozygous mutation in the B3GALT6 gene.

OMIM® : 57 The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. (615349) (Updated 05-Apr-2021)

Related Diseases for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Diseases in the Spondylodysplastic Ehlers-Danlos Syndrome family:

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 spondylodysplastic ehlers-danlos syndrome 32.6 B4GALT7 B3GALT6
2 ehlers-danlos syndrome, spondylodysplastic type, 1 11.6
3 ehlers-danlos syndrome 10.2
4 progeroid syndrome 10.2
5 b4galt7-related spondylodysplastic ehlers-danlos syndrome 10.2 B4GALT7 B3GALT6
6 spinal muscular atrophy with progressive myoclonic epilepsy 10.1 B4GALT6 B3GALT4
7 congenital disorder of glycosylation, type iid 10.0 B4GALT4 B4GALNT2
8 collagen disease 9.9 B4GALT7 B3GALT6
9 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 9.9 B4GALT7 B3GAT3
10 hereditary multiple exostoses 9.9 EXTL2 EXTL1
11 meester-loeys syndrome 9.9 B4GALT6 B3GAT3
12 exostosis 9.8 EXTL2 EXTL1
13 geroderma osteodysplasticum 9.8 B3GAT3 B3GALT6
14 desbuquois dysplasia 9.8 B4GALT7 B3GAT3 B3GALT6
15 radioulnar synostosis 9.8 B4GALT7 B3GAT3 B3GALT6
16 larsen syndrome 9.8 B4GALT7 B3GAT3 B3GALT6
17 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8 B4GALT7 B3GAT3 B3GALT6
18 temtamy preaxial brachydactyly syndrome 9.7 EXTL1 B3GAT3 B3GALT6
19 larsen-like syndrome b3gat3 type 9.6 GZMM B4GALT7 B3GAT3 B3GALT6
20 odontochondrodysplasia 9.6 B4GALT7 B3GAT3 B3GALT6

Graphical network of the top 20 diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:



Diseases related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Symptoms & Phenotypes for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Human phenotypes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

58 31 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
3 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 postnatal growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008897
5 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
6 multiple joint contractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002828
7 joint hypermobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001382
8 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
9 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
10 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
11 large joint dislocations 58 31 hallmark (90%) Very frequent (99-80%) HP:0005008
12 metaphyseal widening 58 31 hallmark (90%) Very frequent (99-80%) HP:0003016
13 slender long bones with narrow diaphyses 58 31 hallmark (90%) Very frequent (99-80%) HP:0004993
14 soft, doughy skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0001027
15 spondyloepimetaphyseal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002651
16 acetabular dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008807
17 dysplasia of the femoral head 58 31 hallmark (90%) Very frequent (99-80%) HP:0010575
18 multiple joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012095
19 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
20 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
21 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
22 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
23 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
24 beaking of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004568
25 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
26 neonatal hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001319
27 ovoid vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003300
28 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
29 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
30 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
31 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
32 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
33 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
34 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
35 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
36 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
37 hallux valgus 58 31 frequent (33%) Frequent (79-30%) HP:0001822
38 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
39 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
40 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
41 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
42 atrophic scars 58 31 frequent (33%) Frequent (79-30%) HP:0001075
43 dermal translucency 58 31 frequent (33%) Frequent (79-30%) HP:0010648
44 phalangeal dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0006243
45 cervical spine instability 58 31 frequent (33%) Frequent (79-30%) HP:0010646
46 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
47 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
48 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
49 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
50 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
prominent forehead
flat face

Skeletal Pelvis:
hip dislocation
prominent lesser trochanter
short ilia

Skin Nails Hair Skin:
hyperextensible skin
cutis laxa
doughy skin

Head And Neck Mouth:
long upper lip
cleft palate (rare)

Skeletal Limbs:
metaphyseal flaring
restricted elbow movement
elbow malalignment
epiphyseal dysplasia of femoral head

Skeletal Feet:
clubfeet

Skeletal Hands:
advanced carpal ossification
metacarpal shortening
hand contracture (rare)
carpal fusion (rare)
spatulate finger
more
Skeletal Spine:
kyphoscoliosis
platyspondyly
anterior beak of vertebral body

Head And Neck Eyes:
proptosis
blue sclerae
prominent eyes

Skin Nails Hair Hair:
sparse hair

Neurologic Central Nervous System:
hypotonia
developmental delay (rare)

Growth Weight:
low weight

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (rare)

Skeletal:
large joint laxity

Clinical features from OMIM®:

615349 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 B3GAT3 B4GALT2 B4GALT4 EXTL2

Drugs & Therapeutics for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Genetic Tests for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Genetic tests related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome, Progeroid Type, 2 29 B3GALT6

Anatomical Context for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Publications for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Articles related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

(show all 15)
# Title Authors PMID Year
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 57 6
29931299 2018
2
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. 57 6
23664117 2013
3
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 6 57
10506123 1999
4
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
5
Further defining the phenotypic spectrum of B4GALT7 mutations. 6
26940150 2016
6
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. 6
27023906 2016
7
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 6
24755949 2015
8
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. 6
23956117 2013
9
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. 6
18158310 2008
10
A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. 6
15211654 2004
11
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. 6
10473568 1999
12
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 6
1640425 1992
13
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 6
3631078 1987
14
[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?]. 6
1221956 1975
15
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014

Variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

ClinVar genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B3GALT6 NM_080605.4(B3GALT6):c.353del (p.Asp118fs) Deletion Pathogenic 60490 rs750088530 GRCh37: 1:1168011-1168011
GRCh38: 1:1232631-1232631
2 B3GALT6 NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) SNV Pathogenic 60491 rs397514721 GRCh37: 1:1168583-1168583
GRCh38: 1:1233203-1233203
3 B3GALT6 NM_080605.4(B3GALT6):c.588del (p.Arg197fs) Deletion Pathogenic 60492 rs533071750 GRCh37: 1:1168240-1168240
GRCh38: 1:1232860-1232860
4 B3GALT6 NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) SNV Pathogenic 60493 rs397514722 GRCh37: 1:1167674-1167674
GRCh38: 1:1232294-1232294
5 B3GALT6 NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) Deletion Pathogenic 60494 rs786200942 GRCh37: 1:1168065-1168073
GRCh38: 1:1232685-1232693
6 B3GALT6 NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) SNV Pathogenic 624636 rs1314046622 GRCh37: 1:1168203-1168203
GRCh38: 1:1232823-1232823
7 B3GALT6 NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp) SNV Pathogenic 996067 GRCh37: 1:1168424-1168424
GRCh38: 1:1233044-1233044
8 B3GALT6 NM_080605.4(B3GALT6):c.227del (p.Ile76fs) Deletion Pathogenic 996068 GRCh37: 1:1167885-1167885
GRCh38: 1:1232505-1232505
9 B4GALT7 NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) SNV Pathogenic 5611 rs121917817 GRCh37: 5:177034446-177034446
GRCh38: 5:177607445-177607445
10 B4GALT7 NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) SNV Pathogenic 5612 rs121917818 GRCh37: 5:177034506-177034506
GRCh38: 5:177607505-177607505
11 B4GALT7 NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) SNV Pathogenic 225691 rs375845310 GRCh37: 5:177031251-177031251
GRCh38: 5:177604250-177604250
12 B4GALT7 NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) SNV Pathogenic 253110 rs753594601 GRCh37: 5:177035541-177035541
GRCh38: 5:177608540-177608540
13 B4GALT7 NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) SNV Pathogenic 253108 rs187063864 GRCh37: 5:177034310-177034310
GRCh38: 5:177607309-177607309
14 B4GALT7 NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) SNV Pathogenic 978463 rs1481659687 GRCh37: 5:177036541-177036541
GRCh38: 5:177609540-177609540
15 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) SNV Pathogenic 5613 rs28937869 GRCh37: 5:177035995-177035995
GRCh38: 5:177608994-177608994
16 B3GALT6 NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) SNV Pathogenic 522415 rs1553151294 GRCh37: 1:1168214-1168214
GRCh38: 1:1232834-1232834
17 B3GALT6 NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) Deletion Pathogenic 1034213 GRCh37: 1:1168168-1168175
GRCh38: 1:1232788-1232795
18 B4GALT7 NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) SNV Pathogenic 1029149 GRCh37: 5:177031354-177031354
GRCh38: 5:177604353-177604353
19 B4GALT7 NM_007255.3(B4GALT7):c.277dup (p.His93fs) Duplication Conflicting interpretations of pathogenicity 253109 rs879255634 GRCh37: 5:177031401-177031402
GRCh38: 5:177604400-177604401
20 B4GALT7 NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) SNV Conflicting interpretations of pathogenicity 374581 rs142476892 GRCh37: 5:177031406-177031406
GRCh38: 5:177604405-177604405
21 B3GALT6 NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) SNV Uncertain significance 661179 rs558454078 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
22 B3GALT6 NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) Duplication Uncertain significance 426491 rs1553151150 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
23 B3GALT6 NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) SNV Uncertain significance 838573 GRCh37: 1:1168453-1168453
GRCh38: 1:1233073-1233073
24 B4GALT7 NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) SNV Uncertain significance 849803 GRCh37: 5:177031503-177031503
GRCh38: 5:177604502-177604502
25 B3GALT6 NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) SNV Uncertain significance 386485 rs1039242906 GRCh37: 1:1167689-1167689
GRCh38: 1:1232309-1232309
26 B3GALT6 NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) SNV Uncertain significance 964346 GRCh37: 1:1167717-1167717
GRCh38: 1:1232337-1232337
27 B3GALT6 NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val) SNV Uncertain significance 1034214 GRCh37: 1:1168271-1168271
GRCh38: 1:1232891-1232891
28 B3GALT6 NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) SNV Uncertain significance 1035363 GRCh37: 1:1168187-1168187
GRCh38: 1:1232807-1232807
29 B3GALT6 NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) SNV Uncertain significance 1035382 GRCh37: 1:1168196-1168196
GRCh38: 1:1232816-1232816
30 B3GALT6 NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) SNV Uncertain significance 568476 rs1557526653 GRCh37: 1:1168313-1168313
GRCh38: 1:1232933-1232933
31 B3GALT6 NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) SNV Uncertain significance 498895 rs1553151166 GRCh37: 1:1167735-1167735
GRCh38: 1:1232355-1232355
32 B3GALT6 NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) SNV Uncertain significance 1045942 GRCh37: 1:1168322-1168322
GRCh38: 1:1232942-1232942
33 B3GALT6 NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) SNV Uncertain significance 1047491 GRCh37: 1:1167999-1167999
GRCh38: 1:1232619-1232619
34 B3GALT6 NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) SNV Uncertain significance 423210 rs377718922 GRCh37: 1:1168262-1168262
GRCh38: 1:1232882-1232882
35 B3GALT6 NM_080605.4(B3GALT6):c.446del (p.Phe149fs) Deletion Uncertain significance 541338 rs1553151257 GRCh37: 1:1168103-1168103
GRCh38: 1:1232723-1232723
36 B3GALT6 NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) SNV Uncertain significance 1004515 GRCh37: 1:1167807-1167807
GRCh38: 1:1232427-1232427
37 B3GALT6 NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) SNV Uncertain significance 1005617 GRCh37: 1:1168267-1168267
GRCh38: 1:1232887-1232887
38 overlap with 21 genes NC_000001.10:g.(?_948954)_(1284445_?)dup Duplication Uncertain significance 1008424 GRCh37: 1:948954-1284445
GRCh38:
39 B4GALT7 NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) SNV Uncertain significance 1009378 GRCh37: 5:177031407-177031407
GRCh38: 5:177604406-177604406
40 B4GALT7 NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) SNV Uncertain significance 585081 rs373059256 GRCh37: 5:177031314-177031314
GRCh38: 5:177604313-177604313
41 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
42 B3GALT6 NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) SNV Uncertain significance 429685 rs1131691530 GRCh37: 1:1167675-1167675
GRCh38: 1:1232295-1232295
43 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
44 B3GALT6 NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) SNV Uncertain significance 1014335 GRCh37: 1:1168080-1168080
GRCh38: 1:1232700-1232700
45 B3GALT6 NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) Microsatellite Uncertain significance 1014686 GRCh37: 1:1167669-1167670
GRCh38: 1:1232289-1232290
46 B4GALT7 NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) SNV Uncertain significance 1023417 GRCh37: 5:177035558-177035558
GRCh38: 5:177608557-177608557
47 B4GALT7 NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) SNV Uncertain significance 1024894 GRCh37: 5:177035948-177035948
GRCh38: 5:177608947-177608947
48 B3GALT6 NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) SNV Uncertain significance 568475 rs1409554936 GRCh37: 1:1167894-1167894
GRCh38: 1:1232514-1232514
49 B3GALT6 NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) SNV Uncertain significance 838573 GRCh37: 1:1168453-1168453
GRCh38: 1:1233073-1233073
50 B4GALT7 NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) SNV Uncertain significance 389383 rs146632722 GRCh37: 5:177036001-177036001
GRCh38: 5:177609000-177609000

UniProtKB/Swiss-Prot genetic disease variations for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2:

72
# Symbol AA change Variation ID SNP ID
1 B3GALT6 p.Arg6Trp VAR_070132 rs397514722
2 B3GALT6 p.Ser309Thr VAR_070141 rs397514721

Expression for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2.

Pathways for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Pathways related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
2
Show member pathways
12.59 B4GALT6 B4GALT4 B4GALT2 B4GALNT2
3
Show member pathways
12.18 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3 B3GALT6
4
Show member pathways
12.12 B4GALT7 B3GAT3 B3GALT6
5
Show member pathways
11.38 B4GALT6 B4GALT4 B4GALT2
6
Show member pathways
11.05 B4GALT6 B4GALT4 B4GALT2
7
Show member pathways
10.85 EXTL2 EXTL1 B4GALT7 B3GAT3 B3GALT6
8 10.8 B4GALT4 B4GALT2

GO Terms for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Cellular components related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.1 PXYLP1 GZMM EXTL2 EXTL1 B4GALT7 B4GALT6
2 integral component of membrane GO:0016021 10 PXYLP1 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4
3 Golgi apparatus GO:0005794 9.65 PXYLP1 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
4 Golgi cisterna membrane GO:0032580 9.55 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GALT6
5 Golgi membrane GO:0000139 9.28 PXYLP1 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B4GALNT2

Biological processes related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.77 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3
2 keratan sulfate biosynthetic process GO:0018146 9.58 B4GALT6 B4GALT4 B4GALT2
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.5 EXTL2 B3GAT3 B3GALT6
4 IRE1-mediated unfolded protein response GO:0036498 9.49 EXTL2 EXTL1
5 proteoglycan biosynthetic process GO:0030166 9.48 B4GALT7 B3GALT6
6 chondroitin sulfate proteoglycan biosynthetic process GO:0050650 9.46 PXYLP1 B3GAT3
7 glycosaminoglycan biosynthetic process GO:0006024 9.46 PXYLP1 B4GALT7 B3GAT3 B3GALT6
8 UDP-N-acetylgalactosamine metabolic process GO:0019276 9.43 EXTL2 B4GALNT2
9 glycosaminoglycan metabolic process GO:0030203 9.43 B4GALT7 B3GAT3 B3GALT6
10 protein glycosylation GO:0006486 9.32 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
11 glycosylation GO:0070085 9.26 B4GALT7 B4GALT6 B4GALT4 B4GALT2

Molecular functions related to Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.85 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
2 manganese ion binding GO:0030145 9.48 EXTL2 B4GALT7
3 acetylglucosaminyltransferase activity GO:0008375 9.46 EXTL1 B3GALT4
4 glucuronosyltransferase activity GO:0015020 9.43 EXTL1 B3GAT3
5 acetylgalactosaminyltransferase activity GO:0008376 9.4 B4GALNT2 B3GALT4
6 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity GO:0008499 9.37 B3GALT6 B3GALT4
7 N-acetyllactosamine synthase activity GO:0003945 9.32 B4GALT4 B4GALT2
8 transferase activity, transferring glycosyl groups GO:0016757 9.28 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
9 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity GO:0003831 9.26 B4GALT7 B4GALT2
10 galactosyltransferase activity GO:0008378 9.26 B4GALT7 B4GALT6 B4GALT4 B4GALT2

Sources for Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

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
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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