Details of Disease

General Information of Disease (ID: DISFGV8H)

Disease Name Nephronophthisis 11
Synonyms nephronophthisis type 11; nephronophthisis 11; NPHP11
Definition A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISQ4EJN: Senior-Boichis syndrome
DISFGV8H: Nephronophthisis 11
Disease Identifiers
MONDO ID
MONDO_0013302
UMLS CUI
C3150796
OMIM ID
613550
MedGen ID
462146

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
TMEM67 OTME92T5 Definitive Autosomal recessive [1]
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References

1 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.