MCID: SPN370
MIFTS: 36

Spondylodysplastic Ehlers-Danlos Syndrome

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

Aliases & Classifications for Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards integrated aliases for Spondylodysplastic Ehlers-Danlos Syndrome:

Name: Spondylodysplastic Ehlers-Danlos Syndrome 49
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 49 55
Ehlers-Danlos Syndrome, Progeroid Type 49 55
Xgpt Deficiency 49 55
Proteodermatan Sulfate, Defective Biosynthesis of 49
Defective Biosynthesis of Proteodermatan Sulfate 55
Ehlers-Danlos Syndrome, Progeroid Form 69
Galactosyltransferase I Deficiency 55
Galactosyltransferase 1 Deficiency 49
Pds, Defective Biosynthesis of 49
Dermatan Sulfate Proteoglycan 49
Eds, Progeroid Type 55
B4galt7-Cdg 55
Pds 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 Spondylodysplastic Ehlers-Danlos syndrome(EDS) is a genetic disorder of the connective tissue, which is the material between body cells that gives tissues form and strength. The disorder primarily affects the skin, hair, and skeletal system. Symptoms usually begin by childhood or adolescence. Like people with other types of EDS, people with this form 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. Last updated: 4/20/2017

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, spondylodysplastic type, 2, and has symptoms including cryptorchidism, narrow mouth and gingivitis. 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.

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:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 narrow mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000160
3 gingivitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000230
4 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
5 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
6 wide nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000431
7 telecanthus 55 31 frequent (33%) Frequent (79-30%) HP:0000506
8 sparse eyelashes 55 31 frequent (33%) Frequent (79-30%) HP:0000653
9 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
10 thin skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000963
11 cutis laxa 55 31 hallmark (90%) Very frequent (99-80%) HP:0000973
12 hyperextensible skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0000974
13 abnormality of skin pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0001000
14 atrophic scars 55 31 frequent (33%) Frequent (79-30%) HP:0001075
15 arachnodactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001166
16 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
17 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
18 flexion contracture 55 31 hallmark (90%) Very frequent (99-80%) HP:0001371
19 pulmonic stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001642
20 aortic valve stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001650
21 pes planus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001763
22 abnormal facial shape 55 31 frequent (33%) Frequent (79-30%) HP:0001999
23 sparse scalp hair 55 31 frequent (33%) Frequent (79-30%) HP:0002209
24 skeletal dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0002652
25 kyphoscoliosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002751
26 skeletal muscle atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0003202
27 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
28 progeroid facial appearance 55 31 hallmark (90%) Very frequent (99-80%) HP:0005328
29 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
30 abnormality of primary teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0006481
31 palmoplantar cutis gyrata 55 31 hallmark (90%) Very frequent (99-80%) HP:0007469
32 lipodystrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009125
33 long toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010511
34 testicular torsion 55 31 hallmark (90%) Very frequent (99-80%) HP:0100813
35 sparse eyebrow 55 Frequent (79-30%)
36 atypical scarring of skin 55 Frequent (79-30%)
37 growth delay 55 Very frequent (99-80%)
38 sparse and thin eyebrow 31 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:

38
Skin, Bone, Skeletal Muscle

Publications for Spondylodysplastic Ehlers-Danlos Syndrome

Articles related to Spondylodysplastic Ehlers-Danlos Syndrome:

# Title Authors Year
1
Development of immunoglobulin A nephropathy- like disease in beta-1,4-galactosyltransferase-I-deficient mice. ( 17255313 )
2007
2
A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. ( 2106134 )
1990

Variations for Spondylodysplastic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Spondylodysplastic Ehlers-Danlos Syndrome:

6
# 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.617T> C (p.Leu206Pro) single nucleotide variant Pathogenic rs121917818 GRCh37 Chromosome 5, 177034506: 177034506
3 B4GALT7 NM_007255.2(B4GALT7): c.808C> T (p.Arg270Cys) single nucleotide variant Pathogenic/Likely pathogenic rs28937869 GRCh37 Chromosome 5, 177035995: 177035995
4 B4GALT7 B4GALT7, LEU41PRO undetermined variant Pathogenic
5 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
6 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
7 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
8 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Likely pathogenic rs200503833 GRCh37 Chromosome 5, 177027249: 177027249

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....