MCID: EHL015
MIFTS: 20

Ehlers-Danlos Syndrome Progeroid Type

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Ehlers-Danlos Syndrome Progeroid Type

MalaCards integrated aliases for Ehlers-Danlos Syndrome Progeroid Type:

Name: Ehlers-Danlos Syndrome Progeroid Type 12 30 6 15
Ehlers-Danlos Syndrome, Progeroid Type, 2 12 30 6
Ehlers-Danlos Syndrome, Progeroid Form 45 74
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 12
Defective Biosynthesis of Proteodermatan Sulfate 12
Xgpt Deficiency 12

Classifications:



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Disease Ontology 12 DOID:0050802
MeSH 45 C536201
UMLS 74 C1869122

Summaries for Ehlers-Danlos Syndrome Progeroid Type

Disease Ontology : 12 An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has material basis in compound heterozygous mutation in the B3GALT6 gene.

MalaCards based summary : Ehlers-Danlos Syndrome Progeroid Type, also known as ehlers-danlos syndrome, progeroid type, 2, is related to spondylodysplastic ehlers-danlos syndrome and ehlers-danlos syndrome, spondylodysplastic type, 2. An important gene associated with Ehlers-Danlos Syndrome Progeroid Type 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.

Related Diseases for Ehlers-Danlos Syndrome Progeroid Type

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

# Related Disease Score Top Affiliating Genes
1 spondylodysplastic ehlers-danlos syndrome 31.6 B3GALT6 B4GALT7
2 ehlers-danlos syndrome, spondylodysplastic type, 2 11.8
3 ehlers-danlos syndrome, spondylodysplastic type, 1 11.7
4 ehlers-danlos syndrome 9.6 B3GALT6 B4GALT7

Symptoms & Phenotypes for Ehlers-Danlos Syndrome Progeroid Type

Drugs & Therapeutics for Ehlers-Danlos Syndrome Progeroid Type

Search Clinical Trials , NIH Clinical Center for Ehlers-Danlos Syndrome Progeroid Type

Cochrane evidence based reviews: ehlers-danlos syndrome, progeroid form

Genetic Tests for Ehlers-Danlos Syndrome Progeroid Type

Genetic tests related to Ehlers-Danlos Syndrome Progeroid Type:

# Genetic test Affiliating Genes
1 Ehlers-Danlos Syndrome Progeroid Type 30
2 Ehlers-Danlos Syndrome, Progeroid Type, 2 30 B3GALT6

Anatomical Context for Ehlers-Danlos Syndrome Progeroid Type

MalaCards organs/tissues related to Ehlers-Danlos Syndrome Progeroid Type:

42
Skin

Publications for Ehlers-Danlos Syndrome Progeroid Type

Variations for Ehlers-Danlos Syndrome Progeroid Type

ClinVar genetic disease variations for Ehlers-Danlos Syndrome Progeroid Type:

6 (show all 26)
# 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(B4GALT7): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 177604250: 177604250
8 B4GALT7 NM_007255.2(B4GALT7): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 177031251: 177031251
9 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
10 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh37 Chromosome 5, 177034310: 177034310
11 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
12 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh37 Chromosome 5, 177031406: 177031406
13 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
14 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh37 Chromosome 5, 177035541: 177035541
15 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh37 Chromosome 5, 177027249: 177027249
16 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh38 Chromosome 5, 177600248: 177600248
17 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh37 Chromosome 5, 177031540: 177031540
18 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh38 Chromosome 5, 177604539: 177604539
19 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh37 Chromosome 5, 177031406: 177031406
20 B4GALT7 NM_007255.2(B4GALT7): c.277C> T (p.His93Tyr) single nucleotide variant Uncertain significance rs142476892 GRCh38 Chromosome 5, 177604405: 177604405
21 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
22 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
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.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
25 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided GRCh38 Chromosome 5, 177604313: 177604313
26 B4GALT7 NM_007255.2(B4GALT7): c.185G> A (p.Arg62Lys) single nucleotide variant not provided GRCh37 Chromosome 5, 177031314: 177031314

Expression for Ehlers-Danlos Syndrome Progeroid Type

Search GEO for disease gene expression data for Ehlers-Danlos Syndrome Progeroid Type.

Pathways for Ehlers-Danlos Syndrome Progeroid Type

Pathways related to Ehlers-Danlos Syndrome Progeroid Type 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 Ehlers-Danlos Syndrome Progeroid Type

Cellular components related to Ehlers-Danlos Syndrome Progeroid Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.16 B3GALT6 B4GALT7
2 Golgi apparatus GO:0005794 9.13 B3GALT6 B4GALT7 SDF4
3 Golgi cisterna membrane GO:0032580 8.62 B3GALT6 B4GALT7

Biological processes related to Ehlers-Danlos Syndrome Progeroid Type 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 Ehlers-Danlos Syndrome Progeroid Type 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 Ehlers-Danlos Syndrome Progeroid Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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