PDS
MCID: SPN370
MIFTS: 40

Spondylodysplastic Ehlers-Danlos Syndrome (PDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic 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 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 eye, and related phenotypes are macrocephaly and osteopenia

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

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome progeroid type 31.9 B3GALT6 B4GALT7
2 ehlers-danlos syndrome 30.2 B3GALT6 B4GALT7
3 parkinson disease, late-onset 12.2
4 ehlers-danlos syndrome, spondylodysplastic type, 2 11.8
5 glaucoma-related pigment dispersion syndrome 11.7
6 prolidase deficiency 11.7
7 ehlers-danlos syndrome, spondylodysplastic type, 1 11.7
8 pendred syndrome 11.6
9 personality disorder 11.3
10 multiple system atrophy 1 11.3
11 synucleinopathy 11.2
12 corticobasal degeneration 11.2
13 ectodermal dysplasia/skin fragility syndrome 11.1
14 parkinson disease 19a, juvenile-onset 11.1
15 palladium allergic contact dermatitis 11.0
16 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.0
17 dementia, lewy body 10.9
18 pick disease of brain 10.9
19 epilepsy, pyridoxine-dependent 10.9
20 thyroxine-binding globulin quantitative trait locus 10.9
21 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
22 kufor-rakeb syndrome 10.9
23 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9
24 parkinson disease 17 10.9
25 parkinson disease 18, autosomal dominant 10.9
26 parkinson disease 20, early-onset 10.9
27 parkinson disease 21 10.9
28 diphallia 10.9
29 deep brain stimulation for movement disorders 10.9
30 disorganization, mouse, homolog of 10.3
31 pancreas disease 10.2
32 primary orthostatic tremor 10.2
33 pontocerebellar hypoplasia 10.2
34 peritonitis 10.2
35 alzheimer disease 10.1
36 burn scar 10.1
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
38 autoimmune progesterone dermatitis 10.1
39 tremor 10.1
40 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
41 pemphigus foliaceus 10.0
42 dementia 10.0
43 rem sleep behavior disorder 10.0
44 movement disease 10.0
45 panic disorder 10.0
46 cervical intraepithelial neoplasia 10.0
47 frasier syndrome 10.0
48 retinoblastoma 10.0
49 periodontal disease 10.0
50 essential tremor 10.0

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

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
2
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. ( 28882145 )
2017

Variations for Spondylodysplastic Ehlers-Danlos Syndrome

ClinVar genetic disease variations for Spondylodysplastic Ehlers-Danlos Syndrome:

6 (show all 25)
# 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 NM_007255.2: c.122T> C single nucleotide 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.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh37 Chromosome 5, 177031406: 177031406
19 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh38 Chromosome 5, 177604405: 177604405
20 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
21 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
22 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
23 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh38 Chromosome 5, 177608963: 177608963
24 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided rs373059256 GRCh38 Chromosome 5, 177604313: 177604313
25 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided rs373059256 GRCh37 Chromosome 5, 177031314: 177031314

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....