MCID: ISC019
MIFTS: 14

Ischiovertebral Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ischiovertebral Syndrome

MalaCards integrated aliases for Ischiovertebral Syndrome:

Name: Ischiovertebral Syndrome 60
Ischiovertebral Dysplasia 60
Ischiospinal Dysostosis 60

Characteristics:

Orphanet epidemiological data:

60
ischiovertebral syndrome
Inheritance: Autosomal recessive,Not applicable;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q77.8
Orphanet 60 ORPHA85200

Summaries for Ischiovertebral Syndrome

MalaCards based summary : Ischiovertebral Syndrome, also known as ischiovertebral dysplasia, is related to dysostosis and pierre robin syndrome. An important gene associated with Ischiovertebral Syndrome is BMPER (BMP Binding Endothelial Regulator). Affiliated tissues include bone and kidney.

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 10.6
2 pierre robin syndrome 10.2
3 diaphanospondylodysostosis 10.2
4 cystic kidney disease 10.2
5 kidney disease 10.2
6 skeletal dysplasias 10.2

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

MalaCards organs/tissues related to Ischiovertebral Syndrome:

42
Bone, Kidney

Publications for Ischiovertebral Syndrome

Articles related to Ischiovertebral Syndrome:

# Title Authors Year
1
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. ( 29704261 )
2018
2
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. ( 28815954 )
2017
3
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. ( 28473936 )
2017
4
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. ( 26728142 )
2016
5
Ischiospinal dysostosis with cystic kidney disease: report of two cases. ( 12868471 )
2003
6
Ischiospinal dysostosis with rib gaps and nephroblastomatosis. ( 11152142 )
2001

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
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
51 NCIt
52 NDF-RT
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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