MCID: EHL015
MIFTS: 20

Ehlers-Danlos Syndrome Progeroid Type

Categories: 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 29 6 15
Ehlers-Danlos Syndrome, Progeroid Type, 2 12 29 6
Ehlers-Danlos Syndrome, Progeroid Form 44 73
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 12
Defective Biosynthesis of Proteodermatan Sulfate 12
Xgpt Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050802
MeSH 44 C536201
UMLS 73 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 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.

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 30.8 B3GALT6 B4GALT7
2 ehlers-danlos syndrome, spondylodysplastic type, 2 12.1
3 ehlers-danlos syndrome, spondylodysplastic type, 1 11.5
4 ehlers-danlos syndrome 8.9 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 29 B4GALT7
2 Ehlers-Danlos Syndrome, Progeroid Type, 2 29 B3GALT6

Anatomical Context for Ehlers-Danlos Syndrome Progeroid Type

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

41
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 37)
# 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 B3GALT6 NM_080605.3(B3GALT6): c.353delA (p.Asp118Alafs) deletion Pathogenic rs750088530 GRCh37 Chromosome 1, 1168011: 1168011
8 B3GALT6 NM_080605.3(B3GALT6): c.353delA (p.Asp118Alafs) deletion Pathogenic rs750088530 GRCh38 Chromosome 1, 1232631: 1232631
9 B3GALT6 NM_080605.3(B3GALT6): c.925T> A (p.Ser309Thr) single nucleotide variant Pathogenic rs397514721 GRCh37 Chromosome 1, 1168583: 1168583
10 B3GALT6 NM_080605.3(B3GALT6): c.925T> A (p.Ser309Thr) single nucleotide variant Pathogenic rs397514721 GRCh38 Chromosome 1, 1233203: 1233203
11 B3GALT6 NM_080605.3(B3GALT6): c.588delG (p.Arg197Alafs) deletion Pathogenic rs786200941 GRCh37 Chromosome 1, 1168246: 1168246
12 B3GALT6 NM_080605.3(B3GALT6): c.588delG (p.Arg197Alafs) deletion Pathogenic rs786200941 GRCh38 Chromosome 1, 1232866: 1232866
13 B3GALT6 NM_080605.3(B3GALT6): c.16C> T (p.Arg6Trp) single nucleotide variant Pathogenic rs397514722 GRCh37 Chromosome 1, 1167674: 1167674
14 B3GALT6 NM_080605.3(B3GALT6): c.16C> T (p.Arg6Trp) single nucleotide variant Pathogenic rs397514722 GRCh38 Chromosome 1, 1232294: 1232294
15 B3GALT6 NM_080605.3(B3GALT6): c.415_423delATGCTGGCC (p.Met139_Ala141del) deletion Pathogenic rs786200942 GRCh37 Chromosome 1, 1168073: 1168081
16 B3GALT6 NM_080605.3(B3GALT6): c.415_423delATGCTGGCC (p.Met139_Ala141del) deletion Pathogenic rs786200942 GRCh38 Chromosome 1, 1232693: 1232701
17 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh37 Chromosome 1, 1167796: 1167796
18 B3GALT6 NM_080605.3(B3GALT6): c.138C> T (p.Ser46=) single nucleotide variant Benign/Likely benign rs190796582 GRCh38 Chromosome 1, 1232416: 1232416
19 B4GALT7 B4GALT7, LEU41PRO undetermined variant Pathogenic
20 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh38 Chromosome 5, 177607309: 177607309
21 B4GALT7 NM_007255.2(B4GALT7): c.421C> T (p.Arg141Trp) single nucleotide variant Likely pathogenic rs187063864 GRCh37 Chromosome 5, 177034310: 177034310
22 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh38 Chromosome 5, 177604405: 177604405
23 B4GALT7 NM_007255.2(B4GALT7): c.277dupC (p.His93Profs) duplication Pathogenic rs879255634 GRCh37 Chromosome 5, 177031406: 177031406
24 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh38 Chromosome 5, 177608540: 177608540
25 B4GALT7 NM_007255.2(B4GALT7): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs753594601 GRCh37 Chromosome 5, 177035541: 177035541
26 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh37 Chromosome 5, 177027249: 177027249
27 B4GALT7 NM_007255.2(B4GALT7): c.38G> A (p.Trp13Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200503833 GRCh38 Chromosome 5, 177600248: 177600248
28 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh37 Chromosome 5, 177031540: 177031540
29 B4GALT7 NM_007255.2(B4GALT7): c.411C> T (p.Phe137=) single nucleotide variant Benign/Likely benign rs142951817 GRCh38 Chromosome 5, 177604539: 177604539
30 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh37 Chromosome 5, 177031348: 177031348
31 B4GALT7 NM_007255.2(B4GALT7): c.219T> C (p.Arg73=) single nucleotide variant Benign rs11537644 GRCh38 Chromosome 5, 177604347: 177604347
32 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh37 Chromosome 5, 177035964: 177035964
33 B4GALT7 NM_007255.2(B4GALT7): c.777T> C (p.His259=) single nucleotide variant Benign rs729459 GRCh38 Chromosome 5, 177608963: 177608963
34 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh37 Chromosome 1, 1167680: 1167694
35 B3GALT6 NM_080605.3(B3GALT6): c.22_36dup (p.Ala12_Ala13insTrpArgArgArgAla) duplication Benign/Likely benign GRCh38 Chromosome 1, 1232300: 1232314
36 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh38 Chromosome 1, 1232724: 1232724
37 B3GALT6 NM_080605.3(B3GALT6): c.446delT (p.Phe149Serfs) deletion Uncertain significance GRCh37 Chromosome 1, 1168104: 1168104

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 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....