BNAR
MCID: BFD002
MIFTS: 22

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 58 54 60 38 30 13 6 41 74
Bnar Syndrome 54 60
Bnar 58 76
Bifid Nose Renal Agenesis and Anorectal Malformations Syndrome 76
Bifid Nose, with or Without Anorectal and Renal Anomalies 76

Characteristics:

Orphanet epidemiological data:

60
bnar syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

33
bifid nose with or without anorectal and renal anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 608980
KEGG 38 H00685
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2750433
Orphanet 60 ORPHA217266
MedGen 43 C2750433
UMLS 74 C2750433

Summaries for Bifid Nose with or Without Anorectal and Renal Anomalies

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217266Disease definitionBNAR 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).Visit the Orphanet disease page for more resources.

MalaCards based summary : Bifid Nose with or Without Anorectal and Renal Anomalies, also known as bnar syndrome, is related to renal hypodysplasia/aplasia 1 and bifid nose. An important gene associated with Bifid Nose with or Without Anorectal and Renal Anomalies is FREM1 (FRAS1 Related Extracellular Matrix 1). Affiliated tissues include kidney, and related phenotypes are bifid nose and anteriorly placed anus

UniProtKB/Swiss-Prot : 76 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.

Description 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 renal hypodysplasia/aplasia 1 10.1
2 bifid nose 10.1

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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bifid nose 60 33 obligate (100%) Obligate (100%) HP:0011803
2 anteriorly placed anus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001545
3 anal stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002025
4 short lingual frenulum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000200
5 abnormality of the 5th toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010322
6 renal agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0000104
7 abnormal respiratory system morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012252
8 short philtrum 33 HP:0000322
9 abnormality of the kidney 33 HP:0000077
10 bulbous nose 33 HP:0000414
11 rectovaginal fistula 33 HP:0000143

Clinical features from OMIM:

608980

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 Bifid Nose with or Without Anorectal and Renal Anomalies 30 FREM1

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

MalaCards organs/tissues related to Bifid Nose with or Without Anorectal and Renal Anomalies:

42
Kidney

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 Year
1
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. ( 23401257 )
2013
2
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. ( 19732862 )
2009
3
An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. ( 11822703 )
2002

Variations for Bifid Nose with or Without Anorectal and Renal Anomalies

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

76
# Symbol AA change Variation ID SNP ID
1 FREM1 p.Arg649Trp VAR_063422 rs121912609
2 FREM1 p.Gly1440Ser VAR_063423 rs121912610

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FREM1 FREM1, 1-BP DEL, 2721G deletion Pathogenic
2 FREM1 NM_144966.5(FREM1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs121912609 GRCh37 Chromosome 9, 14824927: 14824927
3 FREM1 NM_144966.5(FREM1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs121912609 GRCh38 Chromosome 9, 14824929: 14824929
4 FREM1 NM_144966.5(FREM1): c.4318G> A (p.Gly1440Ser) single nucleotide variant Pathogenic rs121912610 GRCh37 Chromosome 9, 14784492: 14784492
5 FREM1 NM_144966.5(FREM1): c.4318G> A (p.Gly1440Ser) single nucleotide variant Pathogenic rs121912610 GRCh38 Chromosome 9, 14784494: 14784494
6 FREM1 NM_144966.5(FREM1): c.578C> G (p.Pro193Arg) single nucleotide variant Uncertain significance rs377565472 GRCh38 Chromosome 9, 14859236: 14859236
7 FREM1 NM_144966.5(FREM1): c.578C> G (p.Pro193Arg) single nucleotide variant Uncertain significance rs377565472 GRCh37 Chromosome 9, 14859234: 14859234

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
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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46 MESH via Orphanet
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50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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