MCID: ISC019
MIFTS: 14

Ischiovertebral Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Ischiovertebral Syndrome

MalaCards integrated aliases for Ischiovertebral Syndrome:

Name: Ischiovertebral Syndrome 58
Ischiovertebral Dysplasia 58
Ischiospinal Dysostosis 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Neonatal 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 Q77.8
Orphanet 58 ORPHA85200

Summaries for Ischiovertebral Syndrome

Orphanet: 58 Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism.

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). 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 dysostosis 10.5
2 diaphanospondylodysostosis 10.3
3 wilms tumor 1 10.1
4 pierre robin syndrome 10.1
5 spondylocostal dysostosis 1, autosomal recessive 10.1
6 wilms tumor 5 10.1
7 polycystic kidney disease 10.1
8 cystic kidney disease 10.1
9 kidney disease 10.1
10 autosomal dominant polycystic kidney disease 10.1
11 scoliosis 10.1
12 osteochondrodysplasia 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

Organs/tissues related to Ischiovertebral Syndrome:

MalaCards : Bone, Kidney

Publications for Ischiovertebral Syndrome

Articles related to Ischiovertebral Syndrome:

# Title Authors PMID Year
1
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review. 62
35240322 2022
2
Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report. 62
35328179 2022
3
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype. 62
29704261 2019
4
Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years. 62
28815954 2017
5
Ischiospinal Dysostosis in a Child with Pierre-Robin Syndrome. 62
28473936 2017
6
Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis. 62
26728142 2016
7
Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management. 62
24503682 2014
8
Ischiospinal dysostosis with cystic kidney disease: report of two cases. 62
12868471 2003
9
Ischiospinal dysostosis with rib gaps and nephroblastomatosis. 62
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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