Details of Disease

General Information of Disease (ID: DISQ4EJN)

• Disease Name: Senior-Boichis syndrome
• Synonyms: nephronophthisis-hepatic fibrosis syndrome; Boichis disease
• Definition: Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child.
• Disease Hierarchy:
  DISZ75RJ: Inherited renal tubular disease
  DISQ4EJN: Senior-Boichis syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019394
  UMLS CUI: C4274018
  MedGen ID: 902988
  Orphanet ID: 84081
  SNOMED CT ID: 717187000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCDC2	OTSUFH1H	Supportive	Autosomal recessive	[1]
TMEM67	OTME92T5	Supportive	Autosomal recessive	[2]
CYS1	OTUXN7CO	Strong	Genetic Variation	[3]

References

• [1] DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. Am J Hum Genet. 2015 Jan 8;96(1):81-92. doi: 10.1016/j.ajhg.2014.12.002. Epub 2014 Dec 31.
• [2] 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.
• [3] Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.Pediatr Nephrol. 2003 Jun;18(6):498-505. doi: 10.1007/s00467-003-1141-1. Epub 2003 May 6.