Details of Disease

General Information of Disease (ID: DIS0NIDC)

Disease Name Infantile osteopetrosis with neuroaxonal dysplasia
Synonyms osteopetrosis and infantile neuroaxonal dystrophy
Definition This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Disease Hierarchy
DIS7GHNM: Osteopetrosis
DIS0NIDC: Infantile osteopetrosis with neuroaxonal dysplasia
Disease Identifiers
MONDO ID
MONDO_0010866
MESH ID
C536055
UMLS CUI
C1838258
OMIM ID
600329
MedGen ID
373924
Orphanet ID
85179

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
OSTM1 OTKNJDH7 Supportive Autosomal recessive [1]
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References

1 Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. Bone. 2013 Aug;55(2):292-7. doi: 10.1016/j.bone.2013.04.007. Epub 2013 Apr 17.