SPEDS
MCID: EHL015
MIFTS: 45

Ehlers-Danlos Syndrome Progeroid Type (SPEDS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome Progeroid Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome Progeroid Type:

Name: Ehlers-Danlos Syndrome Progeroid Type 12 29 6 15
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 12 52
Spondylodysplastic Ehlers-Danlos Syndrome 52 58
Xgpt Deficiency 12 52
Proteodermatan Sulfate, Defective Biosynthesis of 52
Defective Biosynthesis of Proteodermatan Sulfate 12
Ehlers-Danlos Syndrome, Spondylodysplastic Type 36
Syndrome, Ehlers-Danlos, Spondylodysplastic 39
Ehlers-Danlos Syndrome, Progeroid Type, 2 12
Ehlers-Danlos Syndrome, Progeroid Type 52
Ehlers-Danlos Syndrome, Progeroid Form 71
Galactosyltransferase 1 Deficiency 52
Pds, Defective Biosynthesis of 52
Dermatan Sulfate Proteoglycan 52
Spondylodysplastic Eds 58
Speds 58

Classifications:

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


Summaries for Ehlers-Danlos Syndrome Progeroid Type

NIH Rare Diseases : 52 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; soft, 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 : Ehlers-Danlos Syndrome Progeroid Type, also known as xylosylprotein 4-beta-galactosyltransferase deficiency, is related to b4galt7-related spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, spondylodysplastic type, 2. An important gene associated with Ehlers-Danlos Syndrome Progeroid Type is B4GALT7 (Beta-1,4-Galactosyltransferase 7), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include skin, bone and heart, and related phenotypes are generalized joint laxity and global developmental delay

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.

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 Ehlers-Danlos Syndrome Progeroid Type

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 b4galt7-related spondylodysplastic ehlers-danlos syndrome 12.8
2 ehlers-danlos syndrome, spondylodysplastic type, 2 12.1
3 ehlers-danlos syndrome, spondylodysplastic type, 1 11.9
4 ehlers-danlos syndrome, spondylodysplastic type, 3 11.7
5 corneal dystrophy, congenital stromal 11.6
6 gastritis 10.5
7 atrophic gastritis 10.5
8 hypotonia 10.4
9 ehlers-danlos syndrome 10.3
10 progeroid syndrome 10.3
11 gastric adenocarcinoma 10.2
12 alzheimer disease 10.1
13 atherosclerosis susceptibility 10.1
14 renal cell carcinoma, nonpapillary 10.1
15 scleroderma, familial progressive 10.1
16 osteogenic sarcoma 10.1
17 meester-loeys syndrome 10.1
18 spondyloepimetaphyseal dysplasia, matrilin-3 related 10.1
19 fibroma 10.1
20 stromal dystrophy 10.1
21 ureteral obstruction 10.1
22 47,xyy 10.1
23 hypermobile ehlers-danlos syndrome 10.1
24 spondyloepimetaphyseal dysplasia joint laxity 10.1
25 ovarian fibroma 10.1
26 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 9.9 B4GALT7 B3GAT3
27 collagen disease 9.7 B4GALT7 B3GALT6
28 desbuquois dysplasia 9.7 B4GALT7 B3GAT3 B3GALT6
29 radioulnar synostosis 9.7 B4GALT7 B3GAT3 B3GALT6
30 larsen syndrome 9.7 B4GALT7 B3GAT3 B3GALT6
31 hereditary multiple exostoses 9.4 EXTL2 EXTL1
32 larsen-like syndrome b3gat3 type 9.4 GZMM B4GALT7 B3GAT3 B3GALT6
33 exostosis 9.3 EXTL2 EXTL1
34 temtamy preaxial brachydactyly syndrome 9.1 EXTL1 B4GALT7 B3GAT3 B3GALT6

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



Diseases related to Ehlers-Danlos Syndrome Progeroid Type

Symptoms & Phenotypes for Ehlers-Danlos Syndrome Progeroid Type

Human phenotypes related to Ehlers-Danlos Syndrome Progeroid Type:

58 31 (show top 50) (show all 106)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized joint laxity 58 31 hallmark (90%) Very frequent (99-80%) HP:0002761
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
4 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
5 hip dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001385
6 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
7 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
10 flat face 58 31 frequent (33%) Frequent (79-30%) HP:0012368
11 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
12 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
13 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
14 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
15 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
16 platyspondyly 58 31 frequent (33%) Frequent (79-30%) HP:0000926
17 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
18 blue sclerae 58 31 frequent (33%) Frequent (79-30%) HP:0000592
19 hyperextensible skin 58 31 frequent (33%) Frequent (79-30%) HP:0000974
20 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
21 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
22 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
23 congenital kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0008453
24 hypoplastic ilia 58 31 frequent (33%) Frequent (79-30%) HP:0000946
25 slender long bones with narrow diaphyses 58 31 frequent (33%) Frequent (79-30%) HP:0004993
26 soft, doughy skin 58 31 frequent (33%) Frequent (79-30%) HP:0001027
27 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
28 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
29 bowing of the long bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0006487
30 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
31 beaking of vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0004568
32 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
33 abnormal heart valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001654
34 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
35 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
36 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
37 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
38 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
39 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
40 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
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

GenomeRNAi Phenotypes related to Ehlers-Danlos Syndrome Progeroid Type according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased hepcidin::fluc mRNA expression GR00253-A 9.26 B3GAT3 B4GALT4 B4GALT6 B4GALT7
2 Decreased shRNA abundance GR00297-A 8.92 B3GAT3 B4GALT2 B4GALT4 EXTL2

Drugs & Therapeutics for Ehlers-Danlos Syndrome Progeroid Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endocan Predictive Value in Postcardiac Surgery Acute Respiratory Failure. The ENDOLUNG Study Unknown status NCT02542423

Search NIH Clinical Center for Ehlers-Danlos Syndrome Progeroid Type

Genetic Tests for Ehlers-Danlos Syndrome Progeroid Type

Genetic tests related to Ehlers-Danlos Syndrome Progeroid Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Progeroid Type 29 B4GALT7

Anatomical Context for Ehlers-Danlos Syndrome Progeroid Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome Progeroid Type:

40
Skin, Bone, Heart, Pineal

Publications for Ehlers-Danlos Syndrome Progeroid Type

Articles related to Ehlers-Danlos Syndrome Progeroid Type:

# Title Authors PMID Year
1
Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7. 61
27793082 2016
2
A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. 61
25149931 2014
3
[XGalT-1 involved in the synthesis of glyosaminoglycans of proteoglycans and Ehlers-Danlos syndrome (progeroid type)]. 61
12807023 2003

Variations for Ehlers-Danlos Syndrome Progeroid Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome Progeroid Type:

6 (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B4GALT7 NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp)SNV Pathogenic 5611 rs121917817 5:177034446-177034446 5:177607445-177607445
2 B4GALT7 NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro)SNV Pathogenic 5612 rs121917818 5:177034506-177034506 5:177607505-177607505
3 B4GALT7 NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)SNV Pathogenic 5613 rs28937869 5:177035995-177035995 5:177608994-177608994
4 B4GALT7 NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro)SNV Pathogenic 225691 rs375845310 5:177031251-177031251 5:177604250-177604250
5 B4GALT7 NM_007255.3(B4GALT7):c.277dup (p.His93fs)duplication Pathogenic 253109 rs879255634 5:177031401-177031402 5:177604400-177604401
6 B4GALT7 NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr)SNV Pathogenic 253110 rs753594601 5:177035541-177035541 5:177608540-177608540
7 B4GALT7 NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)SNV Likely pathogenic 253108 rs187063864 5:177034310-177034310 5:177607309-177607309
8 B4GALT7 NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)SNV Conflicting interpretations of pathogenicity 197288 rs756942664 5:177035587-177035587 5:177608586-177608586
9 B4GALT7 NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)SNV Conflicting interpretations of pathogenicity 282261 rs200503833 5:177027249-177027249 5:177600248-177600248
10 B4GALT7 NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)SNV Conflicting interpretations of pathogenicity 374581 rs142476892 5:177031406-177031406 5:177604405-177604405
11 B4GALT7 NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr)SNV Uncertain significance 389383 rs146632722 5:177036001-177036001 5:177609000-177609000
12 B4GALT7 NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)SNV Uncertain significance 849803 5:177031503-177031503 5:177604502-177604502
13 B4GALT7 NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser)SNV Uncertain significance 646681 5:177035562-177035562 5:177608561-177608561
14 B4GALT7 NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)inversion Uncertain significance 647607 5:177031347-177031348 5:177604346-177604347
15 B4GALT7 NM_007255.3(B4GALT7):c.225C>T (p.Cys75=)SNV Likely benign 783627 5:177031354-177031354 5:177604353-177604353
16 B4GALT7 NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu)SNV Likely benign 728291 5:177034478-177034478 5:177607477-177607477
17 B4GALT7 NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys)SNV Likely benign 748354 5:177035576-177035576 5:177608575-177608575
18 B4GALT7 NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)SNV Likely benign 798136 5:177035597-177035597 5:177608596-177608596
19 B4GALT7 NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=)SNV Likely benign 390360 rs200124872 5:177031516-177031516 5:177604515-177604515
20 B4GALT7 NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)SNV Benign/Likely benign 285266 rs142951817 5:177031540-177031540 5:177604539-177604539
21 B4GALT7 NM_007255.3(B4GALT7):c.297G>T (p.Val99=)SNV Benign 386362 rs114036939 5:177031426-177031426 5:177604425-177604425
22 B4GALT7 NM_007255.3(B4GALT7):c.219T>C (p.Arg73=)SNV Benign 383778 rs11537644 5:177031348-177031348 5:177604347-177604347
23 B4GALT7 NM_007255.3(B4GALT7):c.777T>C (p.His259=)SNV Benign 377547 rs729459 5:177035964-177035964 5:177608963-177608963
24 B4GALT7 NM_007255.3(B4GALT7):c.413+60C>GSNV Benign 678008 5:177031602-177031602 5:177604601-177604601
25 B4GALT7 NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val)SNV not provided 684548 5:177031412-177031412 5:177604411-177604411
26 B4GALT7 NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)SNV not provided 585081 rs373059256 5:177031314-177031314 5:177604313-177604313

Expression for Ehlers-Danlos Syndrome Progeroid Type

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

Pathways for Ehlers-Danlos Syndrome Progeroid Type

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

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

GO Terms for Ehlers-Danlos Syndrome Progeroid Type

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.97 GZMM EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4
2 integral component of membrane GO:0016021 9.86 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
3 Golgi apparatus GO:0005794 9.7 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3
4 Golgi membrane GO:0000139 9.43 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3 B3GALT6
5 Golgi cisterna membrane GO:0032580 9.02 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GALT6

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

# Name GO ID Score Top Affiliating Genes
1 glycosaminoglycan biosynthetic process GO:0006024 9.54 B4GALT7 B3GAT3 B3GALT6
2 keratan sulfate biosynthetic process GO:0018146 9.5 B4GALT6 B4GALT4 B4GALT2
3 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.43 EXTL2 B3GAT3 B3GALT6
4 IRE1-mediated unfolded protein response GO:0036498 9.4 EXTL2 EXTL1
5 carbohydrate metabolic process GO:0005975 9.35 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3
6 glycosaminoglycan metabolic process GO:0030203 9.33 B4GALT7 B3GAT3 B3GALT6
7 protein glycosylation GO:0006486 9.23 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.93 EXTL2 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GAT3
2 transferase activity GO:0016740 9.76 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
3 transferase activity, transferring glycosyl groups GO:0016757 9.5 EXTL2 EXTL1 B4GALT7 B4GALT6 B4GALT4 B4GALT2
4 manganese ion binding GO:0030145 9.43 EXTL2 B4GALT7
5 acetylglucosaminyltransferase activity GO:0008375 9.4 EXTL1 B3GALT6
6 glucuronosyltransferase activity GO:0015020 9.37 EXTL1 B3GAT3
7 N-acetyllactosamine synthase activity GO:0003945 9.32 B4GALT4 B4GALT2
8 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity GO:0003831 9.26 B4GALT7 B4GALT2
9 galactosyltransferase activity GO:0008378 9.02 B4GALT7 B4GALT6 B4GALT4 B4GALT2 B3GALT6

Sources for Ehlers-Danlos Syndrome Progeroid Type

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