MCID: ISC011
MIFTS: 9

Ischio-Vertebral Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ischio-Vertebral Syndrome

MalaCards integrated aliases for Ischio-Vertebral Syndrome:

Name: Ischio-Vertebral Syndrome 59
Ischio-Vertebral Dysplasia 59
Ischio-Spinal Dysostosis 59

Characteristics:

Orphanet epidemiological data:

59
ischio-vertebral syndrome
Inheritance: Autosomal recessive,Not applicable;

Classifications:



External Ids:

Orphanet 59 ORPHA85200
ICD10 via Orphanet 34 Q77.8

Summaries for Ischio-Vertebral Syndrome

MalaCards based summary : Ischio-Vertebral Syndrome, also known as ischio-vertebral dysplasia, is related to dysostosis. An important gene associated with Ischio-Vertebral Syndrome is BMPER (BMP Binding Endothelial Regulator). Affiliated tissues include bone.

Related Diseases for Ischio-Vertebral Syndrome

Diseases related to Ischio-Vertebral Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dysostosis 10.2

Symptoms & Phenotypes for Ischio-Vertebral Syndrome

Drugs & Therapeutics for Ischio-Vertebral Syndrome

Search Clinical Trials , NIH Clinical Center for Ischio-Vertebral Syndrome

Genetic Tests for Ischio-Vertebral Syndrome

Anatomical Context for Ischio-Vertebral Syndrome

MalaCards organs/tissues related to Ischio-Vertebral Syndrome:

41
Bone

Publications for Ischio-Vertebral Syndrome

Articles related to Ischio-Vertebral Syndrome:

# Title Authors Year
1
Ischio-spinal dysostosis: a previously unrecognised combination of malformations. ( 10201042 )
1999

Variations for Ischio-Vertebral Syndrome

Expression for Ischio-Vertebral Syndrome

Search GEO for disease gene expression data for Ischio-Vertebral Syndrome.

Pathways for Ischio-Vertebral Syndrome

GO Terms for Ischio-Vertebral Syndrome

Sources for Ischio-Vertebral Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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