Details of Disease

General Information of Disease (ID: DISL6DKB)

Disease Name Osteogenesis imperfecta type 14
Synonyms
osteogenesis imperfecta, type XIV; OI, type 14; osteogenesis imperfecta, type 14; OI14; osteogenesis imperfecta caused by mutation in TMEM38B; TMEM38B osteogenesis imperfecta; osteogenesis imperfecta type XIV
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DISL6DKB: Osteogenesis imperfecta type 14
Disease Identifiers
MONDO ID
MONDO_0014029
UMLS CUI
C3554428
OMIM ID
615066
MedGen ID
767342

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
TMEM38B OT9NOC9B Strong Autosomal recessive [1]
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References

1 TRIC channels are essential for Ca2+ handling in intracellular stores. Nature. 2007 Jul 5;448(7149):78-82. doi: 10.1038/nature05928.