Details of Disease

General Information of Disease (ID: DIS8MC59)

Disease Name Joubert syndrome 10
Synonyms JBTS10; OFD1 Joubert syndrome; Joubert syndrome caused by mutation in OFD1; Joubert syndrome type 10; Joubert syndrome 10, X-linked recessive; Joubert syndrome 10
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.
Disease Hierarchy
DIS7P5CO: Joubert syndrome
DIS8MC59: Joubert syndrome 10
Disease Identifiers
MONDO ID
MONDO_0010431
MESH ID
C567582
UMLS CUI
C2749019
OMIM ID
300804
MedGen ID
440688

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
OFD1 OTAZW5TK Definitive X-linked recessive [1]
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References

1 OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002.