Details of Disease

General Information of Disease (ID: DIS8J9SD)

Disease Name Spinal muscular atrophy with congenital bone fractures 2
Synonyms
ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures; spinal muscular atrophy with congenital bone fractures 2; spinal muscular atrophy with congenital bone fractures type 2; SMABF2; prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1
Definition Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.
Disease Hierarchy
DIS9A4XL: Prenatal-onset spinal muscular atrophy with congenital bone fractures
DIS8J9SD: Spinal muscular atrophy with congenital bone fractures 2
Disease Identifiers
MONDO ID
MONDO_0014807
UMLS CUI
C4225176
OMIM ID
616867
MedGen ID
907910

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
ASCC1 OTH4VAP9 Definitive Autosomal recessive [1]
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References

1 Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-489. doi: 10.1016/j.ajhg.2016.01.006. Epub 2016 Feb 25.