SPEDS
MCID: SPN370
MIFTS: 19

Spondylodysplastic Ehlers-Danlos Syndrome (SPEDS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal 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 53 59
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency 53
Proteodermatan Sulfate, Defective Biosynthesis of 53
Ehlers-Danlos Syndrome, Spondylodysplastic Type 37
Ehlers-Danlos Syndrome, Progeroid Type 53
Ehlers-Danlos Syndrome, Progeroid Form 72
Galactosyltransferase 1 Deficiency 53
Pds, Defective Biosynthesis of 53
Dermatan Sulfate Proteoglycan 53
Spondylodysplastic Eds 59
Xgpt Deficiency 53
Speds 59

Classifications:



External Ids:

KEGG 37 H02239
Orphanet 59 ORPHA536471
UMLS 72 C1869122

Summaries for Spondylodysplastic Ehlers-Danlos Syndrome

NIH Rare Diseases : 53 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 ehlers-danlos syndrome, spondylodysplastic type, 2. An important gene associated with Spondylodysplastic Ehlers-Danlos Syndrome is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include skin and bone.

KEGG : 37
Ehlers-Danlos syndrome, spondylodysplastic type (EDSSPD) is a rare autosomal recessive connective tissue disorder, caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. The majority of EDSSPD patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity.

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endocan Predictive Value in Postcardiac Surgery Acute Respiratory Failure. The ENDOLUNG Study Unknown status NCT02542423

Search 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:

41
Skin, Bone

Publications for Spondylodysplastic Ehlers-Danlos Syndrome

Articles related to Spondylodysplastic Ehlers-Danlos Syndrome:

# Title Authors PMID Year
1
Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency. 38
30914273 2019
2
Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome. 38
29931299 2018
3
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....