MCID: SPN435
MIFTS: 14

Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

MalaCards integrated aliases for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia:

Name: Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia 58 6
Sed and Semd 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C0038015
Orphanet 58 ORPHA253

Summaries for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

MalaCards based summary : Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia, is also known as sed and semd. An important gene associated with Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include bone, and related phenotypes are abnormality of epiphysis morphology and skeletal dysplasia

Related Diseases for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Symptoms & Phenotypes for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Human phenotypes related to Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
4 ovoid vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003300
5 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
8 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
9 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
10 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
11 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
12 coxa vara 58 31 frequent (33%) Frequent (79-30%) HP:0002812
13 short stature 58 Very frequent (99-80%)
14 abnormal form of the vertebral bodies 58 Very frequent (99-80%)

Drugs & Therapeutics for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Search Clinical Trials , NIH Clinical Center for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia

Genetic Tests for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Anatomical Context for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

MalaCards organs/tissues related to Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia:

40
Bone

Publications for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Articles related to Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia:

# Title Authors PMID Year
1
Type II collagen defects in the chondrodysplasias. I. Spondyloepiphyseal dysplasias. 61
2741952 1989

Variations for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

ClinVar genetic disease variations for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 B3GALT6 NM_080605.4(B3GALT6):c.763C>T (p.Gln255Ter)SNV Likely pathogenic 666963 1:1168421-1168421 1:1233041-1233041

Expression for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Search GEO for disease gene expression data for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal Dysplasia.

Pathways for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

GO Terms for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

Sources for Spondyloepiphyseal Dysplasia and Spondyloepimetaphyseal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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