BNAR
MCID: BFD002
MIFTS: 24

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 53 59 37 29 13 6 40 73
Bnar Syndrome 53 59
Bnar 57 75
Bifid Nose Renal Agenesis and Anorectal Malformations Syndrome 75
Bifid Nose, with or Without Anorectal and Renal Anomalies 75

Characteristics:

Orphanet epidemiological data:

59
bnar syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

32
bifid nose with or without anorectal and renal anomalies:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608980
Orphanet 59 ORPHA217266
UMLS via Orphanet 74 C2750433
ICD10 via Orphanet 34 Q87.8
MedGen 42 C2750433
KEGG 37 H00685
UMLS 73 C2750433

Summaries for Bifid Nose with or Without Anorectal and Renal Anomalies

NIH Rare Diseases : 53 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 vaccinia. 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 anteriorly placed anus and anal stenosis

UniProtKB/Swiss-Prot : 75 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 10.0
2 vaccinia 10.0
3 smallpox 10.0
4 bifid nose 10.0

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

Clinical features from OMIM:

608980

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

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteriorly placed anus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001545
2 anal stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002025
3 renal agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0000104
4 bifid nose 59 32 obligate (100%) Obligate (100%) HP:0011803
5 short lingual frenulum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000200
6 abnormality of the 5th toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010322
7 abnormal respiratory system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012252
8 short philtrum 32 HP:0000322
9 abnormality of the kidney 32 HP:0000077
10 bulbous nose 32 HP:0000414
11 rectovaginal fistula 32 HP:0000143

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 29 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:

41
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

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:

75
# 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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