Details of Disease

General Information of Disease (ID: DISJLM82)

Disease Name Bardet-Biedl syndrome 14
Synonyms Bardet-Biedl syndrome 14; Bardet-Biedl syndrome type 14; BBS14; Bardet-Biedl syndrome 14, modifier of
Definition A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.
Disease Hierarchy
DISUS6C6: CEP290-related ciliopathy
DISTBNZW: Bardet biedl syndrome
DISJLM82: Bardet-Biedl syndrome 14
Disease Identifiers
MONDO ID
MONDO_0014442
MESH ID
C567141
UMLS CUI
C2673874
OMIM ID
615991
MedGen ID
393033

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CEP290 TT3XBOV Strong Autosomal recessive [1]
CEP290 TT3XBOV Strong Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CEP290 OTVN52VH Strong Autosomal recessive [1]
TMEM67 OTME92T5 Strong Biomarker [3]
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References

1 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11.
2 Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Ophthalmology. 2018 Dec;125(12):1937-1952. doi: 10.1016/j.ophtha.2018.05.026. Epub 2018 Jul 25.
3 A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015.