MCID: SPN370
MIFTS: 34

Spondylodysplastic Ehlers-Danlos Syndrome

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

Aliases & Classifications for Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Spondylodysplastic Ehlers-Danlos Syndrome:

Name: Spondylodysplastic Ehlers-Danlos Syndrome 53
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 53 59
Ehlers-Danlos Syndrome, Progeroid Type 53 59
Xgpt Deficiency 53 59
Proteodermatan Sulfate, Defective Biosynthesis of 53
Defective Biosynthesis of Proteodermatan Sulfate 59
Ehlers-Danlos Syndrome, Progeroid Form 73
Galactosyltransferase I Deficiency 59
Galactosyltransferase 1 Deficiency 53
Pds, Defective Biosynthesis of 53
Dermatan Sulfate Proteoglycan 53
Eds, Progeroid Type 59
B4galt7-Cdg 59
Pds 59

Characteristics:

Orphanet epidemiological data:

59
ehlers-danlos syndrome, progeroid type
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



Summaries for Spondylodysplastic Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 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 : Spondylodysplastic Ehlers-Danlos Syndrome, also known as xylosylprotein 4-beta-galactosyltransferase deficiency, is related to ehlers-danlos syndrome progeroid type and ehlers-danlos syndrome. 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, bone and skeletal muscle, and related phenotypes are cryptorchidism and narrow mouth

Related Diseases for Spondylodysplastic Ehlers-Danlos Syndrome

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
3 gingivitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000230
4 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
5 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
8 sparse eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0000653
9 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
10 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
11 cutis laxa 59 32 hallmark (90%) Very frequent (99-80%) HP:0000973
12 hyperextensible skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000974
13 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
14 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
15 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
16 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
17 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
18 flexion contracture 59 32 hallmark (90%) Very frequent (99-80%) HP:0001371
19 pulmonic stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001642
20 aortic valve stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001650
21 pes planus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001763
22 abnormal facial shape 59 32 frequent (33%) Frequent (79-30%) HP:0001999
23 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
24 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
25 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
26 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
27 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
28 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
29 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692
30 abnormality of primary teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0006481
31 palmoplantar cutis gyrata 59 32 hallmark (90%) Very frequent (99-80%) HP:0007469
32 lipodystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009125
33 long toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010511
34 testicular torsion 59 32 hallmark (90%) Very frequent (99-80%) HP:0100813
35 sparse eyebrow 59 Frequent (79-30%)
36 atypical scarring of skin 59 Frequent (79-30%)
37 growth delay 59 Very frequent (99-80%)
38 sparse and thin eyebrow 32 frequent (33%) HP:0000535

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:

41
Skin, Bone, Skeletal Muscle

Publications for Spondylodysplastic Ehlers-Danlos Syndrome

Articles related to Spondylodysplastic Ehlers-Danlos Syndrome:

# Title Authors Year
1
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. ( 29931299 )
2018

Variations for Spondylodysplastic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Spondylodysplastic Ehlers-Danlos Syndrome:

6
(show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 B4GALT7 NM_007255.2(B4GALT7): c.557C> A (p.Ala186Asp) single nucleotide variant Pathogenic rs121917817 GRCh37 Chromosome 5, 177034446: 177034446
2 B4GALT7 NM_007255.2(B4GALT7): c.557C> A (p.Ala186Asp) single nucleotide variant Pathogenic rs121917817 GRCh38 Chromosome 5, 177607445: 177607445
3 B4GALT7 NM_007255.2(B4GALT7): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh37 Chromosome 5, 177034506: 177034506
4 B4GALT7 NM_007255.2(B4GALT7): c.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh38 Chromosome 5, 177607505: 177607505
5 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
6 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic rs28937869 GRCh38 Chromosome 5, 177608994: 177608994
7 B4GALT7 B4GALT7, LEU41PRO undetermined variant Pathogenic
8 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
9 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh37 Chromosome 5, 177034310: 177034310
10 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
11 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh37 Chromosome 5, 177031406: 177031406
12 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
13 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh37 Chromosome 5, 177035541: 177035541
14 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh37 Chromosome 5, 177027249: 177027249
15 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh38 Chromosome 5, 177600248: 177600248
16 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh37 Chromosome 5, 177031540: 177031540
17 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh38 Chromosome 5, 177604539: 177604539
18 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
19 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
20 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
21 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh38 Chromosome 5, 177608963: 177608963

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 B3GALT6 B4GALT7
2
Show member pathways
11.46 B3GALT6 B4GALT7
3
Show member pathways
10.46 B3GALT6 B4GALT7

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 B3GALT6 B4GALT7
2 Golgi cisterna membrane GO:0032580 8.62 B3GALT6 B4GALT7

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.16 B3GALT6 B4GALT7
2 glycosaminoglycan biosynthetic process GO:0006024 8.96 B3GALT6 B4GALT7
3 glycosaminoglycan metabolic process GO:0030203 8.62 B3GALT6 B4GALT7

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 8.96 B3GALT6 B4GALT7
2 galactosyltransferase activity GO:0008378 8.62 B3GALT6 B4GALT7

Sources for Spondylodysplastic Ehlers-Danlos Syndrome

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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