Details of Disease | DrugMAP

General Information of Disease (ID: DISQ5VD8)

Disease Name	Meckel syndrome, type 5
Synonyms	Meckel syndrome 5; Meckel syndrome, type 5; MKS5; Meckel syndrome caused by mutation in RPGRIP1L; RPGRIP1L Meckel syndrome; Meckel-Gruber syndrome, type 5
Definition	Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
Disease Hierarchy	DISFLSDF: Polydactyly-syndactyly-triphalangism DISXPHOY: Meckel syndrome DISQ5VD8: Meckel syndrome, type 5
Disease Identifiers	MONDO ID MONDO_0012695 UMLS CUI C1969052 OMIM ID 611561 MedGen ID 409740

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
RPGRIP1L	OT6Z069I	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28.