MCID: ISC019
MIFTS: 10

Ischiovertebral Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ischiovertebral Syndrome

MalaCards integrated aliases for Ischiovertebral Syndrome:

Name: Ischiovertebral Syndrome 58
Ischiovertebral Dysplasia 58
Ischiospinal Dysostosis 58

Characteristics:

Orphanet epidemiological data:

58
ischiovertebral syndrome
Inheritance: Autosomal recessive,Not applicable;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q77.8
Orphanet 58 ORPHA85200

Summaries for Ischiovertebral Syndrome

MalaCards based summary : Ischiovertebral Syndrome, also known as ischiovertebral dysplasia, is related to dysostosis and diaphanospondylodysostosis. An important gene associated with Ischiovertebral Syndrome is BMPER (BMP Binding Endothelial Regulator).

Related Diseases for Ischiovertebral Syndrome

Diseases related to Ischiovertebral Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 10.5
2 diaphanospondylodysostosis 10.3
3 skeletal dysplasias 10.3
4 pierre robin syndrome 10.1
5 polycystic kidney disease 10.1
6 cystic kidney disease 10.1
7 spinal cord injury 10.1
8 scoliosis 10.1
9 respiratory failure 10.1

Graphical network of the top 20 diseases related to Ischiovertebral Syndrome:



Diseases related to Ischiovertebral Syndrome

Symptoms & Phenotypes for Ischiovertebral Syndrome

Drugs & Therapeutics for Ischiovertebral Syndrome

Search Clinical Trials , NIH Clinical Center for Ischiovertebral Syndrome

Genetic Tests for Ischiovertebral Syndrome

Anatomical Context for Ischiovertebral Syndrome

Publications for Ischiovertebral Syndrome

Articles related to Ischiovertebral Syndrome:

# Title Authors PMID Year
1
Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management. 61
24503682 2014

Variations for Ischiovertebral Syndrome

Expression for Ischiovertebral Syndrome

Search GEO for disease gene expression data for Ischiovertebral Syndrome.

Pathways for Ischiovertebral Syndrome

GO Terms for Ischiovertebral Syndrome

Sources for Ischiovertebral Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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