MCID: B4G002
MIFTS: 29

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

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

Aliases & Classifications for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards integrated aliases for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

Name: B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 60
Eds with Short Stature and Limb Anomalies 60
B4galt7-Related Spondylodysplastic Eds 60
Eds Progeroid Type 1 60
Speds-B4galt7 60

Characteristics:

Orphanet epidemiological data:

60
b4galt7-related spondylodysplastic ehlers-danlos syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



Summaries for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards based summary : B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome, also known as eds with short stature and limb anomalies, is related to ehlers-danlos syndrome progeroid type and spondylodysplastic ehlers-danlos syndrome. An important gene associated with B4galt7-Related 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, skeletal muscle and bone, and related phenotypes are macrocephaly and muscular hypotonia

Related Diseases for B4galt7-Related 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 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome

Diseases related to B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome progeroid type 9.7 B3GALT6 B4GALT7
2 spondylodysplastic ehlers-danlos syndrome 9.6 B3GALT6 B4GALT7
3 ehlers-danlos syndrome 9.5 B3GALT6 B4GALT7

Symptoms & Phenotypes for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Human phenotypes related to B4galt7-Related 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 long toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010511
18 progeroid facial appearance 60 33 hallmark (90%) Very frequent (99-80%) HP:0005328
19 palmoplantar cutis gyrata 60 33 hallmark (90%) Very frequent (99-80%) HP:0007469
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 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Search Clinical Trials , NIH Clinical Center for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Genetic Tests for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Anatomical Context for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

MalaCards organs/tissues related to B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome:

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Skin, Skeletal Muscle, Bone, Eye

Publications for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Variations for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Expression for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Search GEO for disease gene expression data for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome.

Pathways for B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Pathways related to B4galt7-Related 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 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Cellular components related to B4galt7-Related 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 B4galt7-Related 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 B4galt7-Related 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 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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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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74 UMLS
75 UMLS via Orphanet
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