Details of Disease

General Information of Disease (ID: DIS6F2GV)

Disease Name Diaphanospondylodysostosis
Synonyms diaphanospondylodysostosis; vertebral ossification, defect in, with nephrogenic rests
Definition
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
Disease Hierarchy
DISZ8ZFO: Spondylodysplastic dysplasia
DIS6F2GV: Diaphanospondylodysostosis
Disease Identifiers
MONDO ID
MONDO_0011946
MESH ID
C564305
UMLS CUI
C1842691
OMIM ID
608022
MedGen ID
374993
Orphanet ID
66637
SNOMED CT ID
721094006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BMPER OTBYON4H Definitive Autosomal recessive [1]
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References

1 BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015.