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MCID: ISC019
MIFTS: 14
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Ischiovertebral Syndrome
Categories:
Bone diseases, Fetal diseases, Rare diseases
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MalaCards integrated aliases for Ischiovertebral Syndrome:
Name: Ischiovertebral Syndrome
58
Characteristics:Inheritance:
Autosomal recessive 58
Classifications:
ICD10:
32
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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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. |
Diseases related to Ischiovertebral Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 12)
Graphical network of the top 20 diseases related to Ischiovertebral Syndrome:
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Organs/tissues related to Ischiovertebral Syndrome:
MalaCards :
Bone,
Kidney
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Articles related to Ischiovertebral Syndrome:
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Search
GEO
for disease gene expression data for Ischiovertebral Syndrome.
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