Details of Disease

General Information of Disease (ID: DISJCA0A)

Disease Name Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Synonyms
short stature, optic nerve atrophy, and Pelger-Huet anomaly; short stature with optic atrophy and Pelger-Hut anomaly syndrome; short stature-optic atrophy-Pelger-Hut anomaly syndrome; soph; soph syndrome; short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DISJCA0A: Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
Disease Identifiers
MONDO ID
MONDO_0013889
UMLS CUI
C3541319
OMIM ID
614800
MedGen ID
762020
Orphanet ID
391677

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
NBAS OTW9IBRI Definitive Autosomal recessive [1]
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References

1 Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023. Epub 2016 Oct 24.