Details of Disease

General Information of Disease (ID: DISRQV6E)

Disease Name Bardet-Biedl syndrome 17
Synonyms Bardet-Biedl syndrome 17; Bardet-Biedl syndrome type 17; BBS17; LZTFL1 Bardet-Biedl syndrome; Bardet-Biedl syndrome caused by mutation in LZTFL1
Definition Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.
Disease Hierarchy
DISTBNZW: Bardet biedl syndrome
DISRQV6E: Bardet-Biedl syndrome 17
Disease Identifiers
MONDO ID
MONDO_0014445
UMLS CUI
C3714980
OMIM ID
615994
MedGen ID
811538

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
LZTFL1 OTIEIOEW Strong Autosomal recessive [1]
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References

1 Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Clin Genet. 2014 May;85(5):476-81. doi: 10.1111/cge.12198. Epub 2013 Jun 12.