Senior-Boichis syndrome

MedGen UID:: 902988
•Concept ID:: C4274018
•: Disease or Syndrome

Synonyms:	Boichis disease; Boichis syndrome; Nephronophthisis hepatic fibrosis syndrome; Nephronophthisis-hepatic fibrosis syndrome; nephronophthisis-hepatic fibrosis syndrome
SNOMED CT:	Boichis disease (717187000); Nephronophthisis hepatic fibrosis syndrome (717187000); Boichis syndrome (717187000)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0019394
Orphanet:	ORPHA84081

Definition

This 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. [from SNOMEDCT_US]