MCID: SPN370
MIFTS: 19

Spondylodysplastic Ehlers-Danlos Syndrome

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

Classifications:



External Ids:

KEGG 38 H02239
Orphanet 60 ORPHA536471
UMLS 74 C1869122

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 b4galt7-related spondylodysplastic ehlers-danlos syndrome and b3galt6-related spondylodysplastic ehlers-danlos syndrome. Affiliated tissues include skin, bone and eye.

Related Diseases for Spondylodysplastic Ehlers-Danlos Syndrome

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

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, Eye

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

GO Terms for Spondylodysplastic Ehlers-Danlos Syndrome

Sources for Spondylodysplastic Ehlers-Danlos Syndrome

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
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
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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