BNAR
MCID: BFD002
MIFTS: 27

Bifid Nose with or Without Anorectal and Renal Anomalies (BNAR)

Categories: Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bifid Nose with or Without Anorectal and Renal Anomalies

MalaCards integrated aliases for Bifid Nose with or Without Anorectal and Renal Anomalies:

Name: Bifid Nose with or Without Anorectal and Renal Anomalies 57 20 58 36 13 39 70
Bnar Syndrome 20 58 29 6
Bnar 57 72
Bifid Nose Renal Agenesis and Anorectal Malformations Syndrome 72
Bifid Nose, with or Without Anorectal and Renal Anomalies 72

Characteristics:

Orphanet epidemiological data:

58
bnar syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

31
bifid nose with or without anorectal and renal anomalies:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 608980
KEGG 36 H00685
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C2750433
Orphanet 58 ORPHA217266
MedGen 41 C2750433
UMLS 70 C2750433

Summaries for Bifid Nose with or Without Anorectal and Renal Anomalies

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 217266 Definition BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (see this term) (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis, see these terms) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome (see these terms).

MalaCards based summary : Bifid Nose with or Without Anorectal and Renal Anomalies, also known as bnar syndrome, is related to alar cleft, isolated and bifid nose. An important gene associated with Bifid Nose with or Without Anorectal and Renal Anomalies is FREM1 (FRAS1 Related Extracellular Matrix 1). Related phenotypes are bifid nose and anteriorly placed anus

KEGG : 36 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.

UniProtKB/Swiss-Prot : 72 Bifid nose, with or without anorectal and renal anomalies: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.

More information from OMIM: 608980

Related Diseases for Bifid Nose with or Without Anorectal and Renal Anomalies

Diseases related to Bifid Nose with or Without Anorectal and Renal Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alar cleft, isolated 10.4
2 bifid nose 10.1
3 renal hypodysplasia/aplasia 1 9.9
4 fraser syndrome 1 9.9
5 frem1 autosomal recessive disorders 9.9
6 vaginal atresia 9.9
7 renal dysplasia 9.9

Graphical network of the top 20 diseases related to Bifid Nose with or Without Anorectal and Renal Anomalies:



Diseases related to Bifid Nose with or Without Anorectal and Renal Anomalies

Symptoms & Phenotypes for Bifid Nose with or Without Anorectal and Renal Anomalies

Human phenotypes related to Bifid Nose with or Without Anorectal and Renal Anomalies:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid nose 58 31 very rare (1%) Obligate (100%) HP:0011803
2 anteriorly placed anus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001545
3 anal stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002025
4 short lingual frenulum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000200
5 abnormality of the 5th toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010322
6 renal agenesis 58 31 very rare (1%) Frequent (79-30%) HP:0000104
7 abnormal respiratory system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012252
8 short philtrum 31 HP:0000322
9 bulbous nose 31 HP:0000414
10 rectovaginal fistula 31 HP:0000143

Clinical features from OMIM®:

608980 (Updated 20-May-2021)

Drugs & Therapeutics for Bifid Nose with or Without Anorectal and Renal Anomalies

Search Clinical Trials , NIH Clinical Center for Bifid Nose with or Without Anorectal and Renal Anomalies

Genetic Tests for Bifid Nose with or Without Anorectal and Renal Anomalies

Genetic tests related to Bifid Nose with or Without Anorectal and Renal Anomalies:

# Genetic test Affiliating Genes
1 Bnar Syndrome 29

Anatomical Context for Bifid Nose with or Without Anorectal and Renal Anomalies

Publications for Bifid Nose with or Without Anorectal and Renal Anomalies

Articles related to Bifid Nose with or Without Anorectal and Renal Anomalies:

# Title Authors PMID Year
1
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 6 57
19732862 2009
2
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. 6 57
11822703 2002
3
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. 61 57
21507892 2011
4
Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. 61
33038106 2021
5
Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition. 61
32926405 2020
6
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. 61
23401257 2013
7
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. 61
23221805 2013
8
FREM1 Autosomal Recessive Disorders 61
20301721 2008

Variations for Bifid Nose with or Without Anorectal and Renal Anomalies

ClinVar genetic disease variations for Bifid Nose with or Without Anorectal and Renal Anomalies:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FREM1 NM_144966.5(FREM1):c.2722del (p.Val908fs) Deletion Pathogenic 1988 rs1588131370 GRCh37: 9:14812981-14812981
GRCh38: 9:14812983-14812983
2 FREM1 NM_144966.5(FREM1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 1989 rs121912609 GRCh37: 9:14824927-14824927
GRCh38: 9:14824929-14824929
3 FREM1 NM_144966.5(FREM1):c.4318G>A (p.Gly1440Ser) SNV Pathogenic 1990 rs121912610 GRCh37: 9:14784492-14784492
GRCh38: 9:14784494-14784494
4 FREM1 NM_001379081.2(FREM1):c.990del (p.Leu331fs) Deletion Pathogenic 1033109 GRCh37: 9:14851444-14851444
GRCh38: 9:14851446-14851446
5 FREM1 NM_144966.5(FREM1):c.578C>G (p.Pro193Arg) SNV Uncertain significance 425454 rs377565472 GRCh37: 9:14859234-14859234
GRCh38: 9:14859236-14859236
6 FREM1 NM_144966.5(FREM1):c.100G>T (p.Val34Leu) SNV Uncertain significance 366176 rs749978636 GRCh37: 9:14868876-14868876
GRCh38: 9:14868878-14868878
7 FREM1 NM_001379081.2(FREM1):c.1786A>G (p.Ile596Val) SNV Uncertain significance 1030226 GRCh37: 9:14841540-14841540
GRCh38: 9:14841542-14841542
8 FREM1 NM_001379081.2(FREM1):c.2042C>T (p.Thr681Ile) SNV Uncertain significance 1030227 GRCh37: 9:14824830-14824830
GRCh38: 9:14824832-14824832

UniProtKB/Swiss-Prot genetic disease variations for Bifid Nose with or Without Anorectal and Renal Anomalies:

72
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Arg649Trp VAR_063422 rs121912609
2 FREM1 p.Gly1440Ser VAR_063423 rs121912610

Expression for Bifid Nose with or Without Anorectal and Renal Anomalies

Search GEO for disease gene expression data for Bifid Nose with or Without Anorectal and Renal Anomalies.

Pathways for Bifid Nose with or Without Anorectal and Renal Anomalies

GO Terms for Bifid Nose with or Without Anorectal and Renal Anomalies

Sources for Bifid Nose with or Without Anorectal and Renal Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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