Details of Disease

General Information of Disease (ID: DIS6DGTX)

Disease Name Joubert syndrome 21
Synonyms Joubert syndrome 21; CSPP1 Joubert syndrome; Joubert syndrome type 21; Joubert syndrome caused by mutation in CSPP1; JBTS21
Definition Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene.
Disease Hierarchy
DIS0AZCT: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
DIS7P5CO: Joubert syndrome
DIS6DGTX: Joubert syndrome 21
Disease Identifiers
MONDO ID
MONDO_0014288
UMLS CUI
C3810212
OMIM ID
615636
MedGen ID
816542

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ARFGEF1 OTPAU0L4 Definitive CausalMutation [1]
CSPP1 OTNX7GD4 Definitive Autosomal recessive [2]
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References

1 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.