PDS
MCID: SPN370
MIFTS: 39

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 54
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 54 60
Ehlers-Danlos Syndrome, Progeroid Type 54 60
Xgpt Deficiency 54 60
Proteodermatan Sulfate, Defective Biosynthesis of 54
Defective Biosynthesis of Proteodermatan Sulfate 60
Ehlers-Danlos Syndrome, Spondylodysplastic Type 38
Ehlers-Danlos Syndrome, Progeroid Form 74
Galactosyltransferase I Deficiency 60
Galactosyltransferase 1 Deficiency 54
Pds, Defective Biosynthesis of 54
Dermatan Sulfate Proteoglycan 54
Eds, Progeroid Type 60
B4galt7-Cdg 60
Pds 60

Characteristics:

Orphanet epidemiological data:

60
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 : 54 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 B3GALT6 (Beta-1,3-Galactosyltransferase 6), 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 macrocephaly and muscular hypotonia

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 256)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome progeroid type 31.7 B3GALT6 B4GALT7
2 ehlers-danlos syndrome 30.0 B3GALT6 B4GALT7
3 ehlers-danlos syndrome, spondylodysplastic type, 3 12.8
4 parkinson disease, late-onset 12.2
5 ehlers-danlos syndrome, spondylodysplastic type, 2 11.8
6 glaucoma-related pigment dispersion syndrome 11.7
7 prolidase deficiency 11.7
8 ehlers-danlos syndrome, spondylodysplastic type, 1 11.7
9 pendred syndrome 11.6
10 multiple system atrophy 1 11.3
11 personality disorder 11.3
12 synucleinopathy 11.3
13 corticobasal degeneration 11.3
14 ectodermal dysplasia/skin fragility syndrome 11.1
15 parkinson disease 19a, juvenile-onset 11.1
16 palladium allergic contact dermatitis 11.0
17 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.0
18 dementia, lewy body 10.9
19 pick disease of brain 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 primary orthostatic tremor 10.5
31 peritonitis 10.3
32 disorganization, mouse, homolog of 10.3
33 pancreas disease 10.2
34 tremor 10.2
35 pontocerebellar hypoplasia 10.1
36 alzheimer disease 10.1
37 burn scar 10.1
38 retinoblastoma 10.1
39 dementia 10.1
40 essential tremor 10.1
41 panic disorder 10.1
42 streptococcal group a invasive disease 10.1
43 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
44 autoimmune progesterone dermatitis 10.1
45 depression 10.1
46 lung cancer 10.0
47 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
48 horns in sheep 10.0
49 pemphigus foliaceus 10.0
50 rem sleep behavior disorder 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:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000256
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
4 pes planus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001763
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 flexion contracture 60 33 hallmark (90%) Very frequent (99-80%) HP:0001371
7 epicanthus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000286
8 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
9 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
10 lipodystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009125
11 arachnodactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001166
12 gingivitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000230
13 pulmonic stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001642
14 testicular torsion 60 33 hallmark (90%) Very frequent (99-80%) HP:0100813
15 hyperextensible skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000974
16 aortic valve stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001650
17 progeroid facial appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005328
18 palmoplantar cutis gyrata 60 33 hallmark (90%) Very frequent (99-80%) HP:0007469
19 long toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010511
20 cutis laxa 60 33 hallmark (90%) Very frequent (99-80%) HP:0000973
21 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
22 skeletal dysplasia 60 33 frequent (33%) Frequent (79-30%) HP:0002652
23 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
24 abnormal facial shape 60 33 frequent (33%) Frequent (79-30%) HP:0001999
25 skeletal muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003202
26 telecanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000506
27 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
28 sparse scalp hair 60 33 frequent (33%) Frequent (79-30%) HP:0002209
29 abnormality of skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0001000
30 sparse eyelashes 60 33 frequent (33%) Frequent (79-30%) HP:0000653
31 atrophic scars 60 33 frequent (33%) Frequent (79-30%) HP:0001075
32 sparse and thin eyebrow 33 frequent (33%) HP:0000535
33 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692
34 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
35 abnormality of primary teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0006481
36 growth delay 60 Very frequent (99-80%)
37 atypical scarring of skin 60 Frequent (79-30%)
38 sparse eyebrow 60 Frequent (79-30%)

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:

42
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
2
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. ( 28882145 )
2017

Variations for Spondylodysplastic Ehlers-Danlos Syndrome

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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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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