SPEDS
MCID: SPN370
MIFTS: 40

Spondylodysplastic Ehlers-Danlos Syndrome (SPEDS)

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

Aliases & Classifications for Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Spondylodysplastic Ehlers-Danlos Syndrome:

Name: Spondylodysplastic Ehlers-Danlos Syndrome 20 58
Galactosyltransferase 1 Deficiency 20 6
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 20
Proteodermatan Sulfate, Defective Biosynthesis of 20
Ehlers-Danlos Syndrome, Spondylodysplastic Type 36
Syndrome, Ehlers-Danlos, Spondylodysplastic 39
Ehlers-Danlos Syndrome, Progeroid Type 20
Ehlers-Danlos Syndrome, Progeroid Form 70
Pds, Defective Biosynthesis of 20
Dermatan Sulfate Proteoglycan 20
Spondylodysplastic Eds 58
Xgpt Deficiency 20
Speds 58

Classifications:

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


Summaries for Spondylodysplastic Ehlers-Danlos Syndrome

GARD : 20 Spondylodysplastic Ehlers-Danlos syndrome (EDS) is a subtype of the EDS, a group of genetic disorders of the connective tissue, which is the material between body cells that gives tissues form and strength. Ehlers-Danlos syndromes primarily affects the skin, hair, and skeletal system. Symptoms usually begin by childhood or adolescence. Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. Features that are unique to this type include short stature ; bowing of the legs; weak muscle tone; sparse scalp hair and eyebrows; s oft, doughy skin; and thin, translucent skin (which can cause the face to look older). Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and pes planus. Spondylodysplastic EDS may be caused by mutations in the B4GALT7 gene, the B3GALT6, or the SLC39A13 gene. It is inherited in an autosomal recessive pattern. Treatment depends on the symptoms that are present.

MalaCards based summary : Spondylodysplastic Ehlers-Danlos Syndrome, also known as galactosyltransferase 1 deficiency, is related to b4galt7-related spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, spondylodysplastic type, 2. An important gene associated with Spondylodysplastic Ehlers-Danlos Syndrome is B4GALT7 (Beta-1,4-Galactosyltransferase 7), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include skin, heart and pineal, and related phenotypes are generalized joint laxity and frontal bossing

KEGG : 36 Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity.

Related Diseases for Spondylodysplastic Ehlers-Danlos Syndrome

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 Spondylodysplastic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 b4galt7-related spondylodysplastic ehlers-danlos syndrome 31.7 B4GALT7 B3GALT6
2 ehlers-danlos syndrome, spondylodysplastic type, 2 31.7 B4GALT7 B3GALT6
3 ehlers-danlos syndrome 30.3 B4GALT7 B3GALT6
4 radioulnar synostosis 29.9 B4GALT7 B3GALT6
5 ehlers-danlos syndrome, spondylodysplastic type, 1 11.5
6 ehlers-danlos syndrome, spondylodysplastic type, 3 11.4
7 corneal dystrophy, congenital stromal 11.3
8 hypotonia 10.4
9 alacrima, achalasia, and mental retardation syndrome 10.2
10 spondyloepimetaphyseal dysplasia 10.2
11 synostosis 10.2
12 hypermobile ehlers-danlos syndrome 10.2
13 farsightedness 10.2
14 atherosclerosis susceptibility 10.1
15 scleroderma, familial progressive 10.1
16 osteogenic sarcoma 10.1
17 fibroma 10.1
18 progeroid syndrome 10.1
19 ovarian fibroma 10.1
20 larsen-like syndrome b3gat3 type 9.8 B4GALT7 B3GALT6
21 desbuquois dysplasia 9.7 B4GALT7 B3GALT6
22 larsen syndrome 9.7 B4GALT7 B3GALT6
23 spondyloepiphyseal dysplasia with congenital joint dislocations 9.6 B4GALT7 B3GALT6
24 collagen disease 9.6 B4GALT7 B3GALT6
25 odontochondrodysplasia 9.5 B4GALT7 B3GALT6

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



Diseases related to Spondylodysplastic Ehlers-Danlos Syndrome

Symptoms & Phenotypes for Spondylodysplastic Ehlers-Danlos Syndrome

Human phenotypes related to Spondylodysplastic Ehlers-Danlos Syndrome:

58 31 (show top 50) (show all 107)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
2 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
3 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
6 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
7 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
8 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
9 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
10 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
11 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
12 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
13 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
14 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
15 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
16 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
17 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
18 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
19 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
20 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
21 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
22 congenital kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0008453
23 hypoplastic ilia 58 31 frequent (33%) Frequent (79-30%) HP:0000946
24 slender long bones with narrow diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0004993
25 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
26 hypotonia 31 frequent (33%) HP:0001252
27 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
28 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
29 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
30 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
31 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
32 beaking of vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0004568
33 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
34 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
35 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
36 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
37 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
38 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
39 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
40 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
41 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
42 sparse scalp hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002209
43 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
44 radioulnar synostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002974
45 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
46 single transverse palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0000954
47 short clavicles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000894
48 cutis laxa 58 31 occasional (7.5%) Occasional (29-5%) HP:0000973
49 talipes equinovalgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001772
50 metaphyseal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100255

Drugs & Therapeutics for Spondylodysplastic Ehlers-Danlos Syndrome

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

Genetic Tests for Spondylodysplastic Ehlers-Danlos Syndrome

Anatomical Context for Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to Spondylodysplastic Ehlers-Danlos Syndrome:

40
Skin, Heart, Pineal

Publications for Spondylodysplastic Ehlers-Danlos Syndrome

Articles related to Spondylodysplastic Ehlers-Danlos Syndrome:

(show all 15)
# Title Authors PMID Year
1
Further defining the phenotypic spectrum of B4GALT7 mutations. 6
26940150 2016
2
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome. 6
24755949 2015
3
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature. 6
23956117 2013
4
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
5
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
6
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. 6
10506123 1999
7
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
8
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome. 6
1640425 1992
9
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. 6
3631078 1987
10
[Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?]. 6
1221956 1975
11
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. 61
31614862 2019
12
Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes. 61
31438591 2019
13
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. 61
30914273 2019
14
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 61
29931299 2018
15
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. 61
28882145 2017

Variations for Spondylodysplastic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Spondylodysplastic Ehlers-Danlos Syndrome:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 B4GALT7 NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) SNV Pathogenic 5611 rs121917817 GRCh37: 5:177034446-177034446
GRCh38: 5:177607445-177607445
2 B4GALT7 NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) SNV Pathogenic 5612 rs121917818 GRCh37: 5:177034506-177034506
GRCh38: 5:177607505-177607505
3 B4GALT7 NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) SNV Pathogenic 225691 rs375845310 GRCh37: 5:177031251-177031251
GRCh38: 5:177604250-177604250
4 B4GALT7 NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) SNV Pathogenic 253110 rs753594601 GRCh37: 5:177035541-177035541
GRCh38: 5:177608540-177608540
5 B4GALT7 NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp) SNV Pathogenic 253108 rs187063864 GRCh37: 5:177034310-177034310
GRCh38: 5:177607309-177607309
6 B4GALT7 NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) SNV Pathogenic 978463 rs1481659687 GRCh37: 5:177036541-177036541
GRCh38: 5:177609540-177609540
7 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) SNV Pathogenic 5613 rs28937869 GRCh37: 5:177035995-177035995
GRCh38: 5:177608994-177608994
8 B4GALT7 NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) SNV Pathogenic 1029149 GRCh37: 5:177031354-177031354
GRCh38: 5:177604353-177604353
9 B4GALT7 NM_007255.3(B4GALT7):c.277dup (p.His93fs) Duplication Conflicting interpretations of pathogenicity 253109 rs879255634 GRCh37: 5:177031401-177031402
GRCh38: 5:177604400-177604401
10 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
11 B4GALT7 NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) SNV Uncertain significance 1009378 GRCh37: 5:177031407-177031407
GRCh38: 5:177604406-177604406
12 B4GALT7 NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) SNV Uncertain significance 585081 rs373059256 GRCh37: 5:177031314-177031314
GRCh38: 5:177604313-177604313
13 B4GALT7 NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) SNV Uncertain significance 1023417 GRCh37: 5:177035558-177035558
GRCh38: 5:177608557-177608557
14 B4GALT7 NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) SNV Uncertain significance 1024894 GRCh37: 5:177035948-177035948
GRCh38: 5:177608947-177608947
15 B4GALT7 NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) SNV Uncertain significance 389383 rs146632722 GRCh37: 5:177036001-177036001
GRCh38: 5:177609000-177609000
16 B4GALT7 NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) SNV Uncertain significance 849803 GRCh37: 5:177031503-177031503
GRCh38: 5:177604502-177604502
17 B4GALT7 NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) SNV Uncertain significance 1033201 GRCh37: 5:177036671-177036671
GRCh38: 5:177609670-177609670
18 B4GALT7 NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) SNV Uncertain significance 282261 rs200503833 GRCh37: 5:177027249-177027249
GRCh38: 5:177600248-177600248
19 B4GALT7 NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) SNV Uncertain significance 197288 rs756942664 GRCh37: 5:177035587-177035587
GRCh38: 5:177608586-177608586
20 B4GALT7 NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) SNV Uncertain significance 646681 rs1468472910 GRCh37: 5:177035562-177035562
GRCh38: 5:177608561-177608561
21 B4GALT7 NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His) Inversion Uncertain significance 647607 GRCh37: 5:177031347-177031348
GRCh38: 5:177604346-177604347
22 B4GALT7 NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) SNV Likely benign 728291 rs200732558 GRCh37: 5:177034478-177034478
GRCh38: 5:177607477-177607477
23 B4GALT7 NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) SNV Likely benign 748354 rs201489289 GRCh37: 5:177035576-177035576
GRCh38: 5:177608575-177608575
24 B4GALT7 NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) SNV Likely benign 783627 rs780427259 GRCh37: 5:177031354-177031354
GRCh38: 5:177604353-177604353
25 B4GALT7 NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) SNV Likely benign 798136 rs147617631 GRCh37: 5:177035597-177035597
GRCh38: 5:177608596-177608596
26 B4GALT7 NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) SNV Likely benign 390360 rs200124872 GRCh37: 5:177031516-177031516
GRCh38: 5:177604515-177604515
27 B4GALT7 NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) SNV Benign/Likely benign 285266 rs142951817 GRCh37: 5:177031540-177031540
GRCh38: 5:177604539-177604539
28 B4GALT7 NM_007255.3(B4GALT7):c.413+60C>G SNV Benign 678008 rs28499092 GRCh37: 5:177031602-177031602
GRCh38: 5:177604601-177604601
29 B4GALT7 NM_007255.3(B4GALT7):c.297G>T (p.Val99=) SNV Benign 386362 rs114036939 GRCh37: 5:177031426-177031426
GRCh38: 5:177604425-177604425
30 B4GALT7 NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) SNV Benign 383778 rs11537644 GRCh37: 5:177031348-177031348
GRCh38: 5:177604347-177604347
31 B4GALT7 NM_007255.3(B4GALT7):c.777T>C (p.His259=) SNV Benign 377547 rs729459 GRCh37: 5:177035964-177035964
GRCh38: 5:177608963-177608963
32 B4GALT7 NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) SNV not provided 684548 rs926913315 GRCh37: 5:177031412-177031412
GRCh38: 5:177604411-177604411

Expression for Spondylodysplastic Ehlers-Danlos Syndrome

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

Pathways for Spondylodysplastic Ehlers-Danlos Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 B4GALT7 B3GALT6
2
Show member pathways
11.46 B4GALT7 B3GALT6
3
Show member pathways
10.46 B4GALT7 B3GALT6

GO Terms for Spondylodysplastic Ehlers-Danlos Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 8.96 B4GALT7 B3GALT6
2 Golgi cisterna membrane GO:0032580 8.62 B4GALT7 B3GALT6

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

# Name GO ID Score Top Affiliating Genes
1 protein phosphopantetheinylation GO:0018215 9.32 B4GALT7 B3GALT6
2 protein glycosylation GO:0006486 9.26 B4GALT7 B3GALT6
3 glycosaminoglycan biosynthetic process GO:0006024 9.16 B4GALT7 B3GALT6
4 proteoglycan biosynthetic process GO:0030166 8.96 B4GALT7 B3GALT6
5 glycosaminoglycan metabolic process GO:0030203 8.62 B4GALT7 B3GALT6

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.62 B4GALT7 B3GALT6

Sources for Spondylodysplastic Ehlers-Danlos Syndrome

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