KEGG DISEASE: Bifid nose with or without anorectal and renal anomalies

KEGG

DISEASE: Bifid nose with or without anorectal and renal anomalies

Entry

H00685                      Disease

Name

Bifid nose with or without anorectal and renal anomalies;
BNAR syndrome

Description

BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00685  Bifid nose with or without anorectal and renal anomalies
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06548  Integrin signaling
   H00685  Bifid nose with or without anorectal and renal anomalies

Pathway

hsa04518 Integrin signaling

Network

nt06548 Integrin signaling

Gene

FREM1 [HSA:158326] [KO:K23380]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS

Title

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Journal

Am J Hum Genet 85:414-8 (2009)
DOI:10.1016/j.ajhg.2009.08.010

Reference

Authors

Al-Gazali LI, Bakir M, Hamud OA, Gerami S

Title

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

Journal

Clin Dysmorphol 11:33-8 (2002)
DOI:10.1097/00019605-200201000-00007

LinkDB

» Japanese version

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