MCID: ARR002
MIFTS: 12

Arrhinia

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Arrhinia

MalaCards integrated aliases for Arrhinia:

Name: Arrhinia 53
Congenital Absence of the Nose 53
Nose Agenesia 53

Classifications:



Summaries for Arrhinia

MalaCards based summary : Arrhinia, also known as congenital absence of the nose, is related to isolated arrhinia and arhinia choanal atresia microphthalmia. An important gene associated with Arrhinia is PAX6 (Paired Box 6).

Wikipedia : 76 Arhinia, also called nasal agenesis, is the congenital partial or complete absence of the nose at birth.... more...

Related Diseases for Arrhinia

Diseases related to Arrhinia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated arrhinia 12.1
2 arhinia choanal atresia microphthalmia 11.1
3 bosma arhinia microphthalmia syndrome 11.1
4 microphthalmia 10.1

Symptoms & Phenotypes for Arrhinia

Drugs & Therapeutics for Arrhinia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Nasal Reconstruction Using a Customized 3D-printed Nasal Stent for Congenital Arhinia Completed NCT02559050

Search NIH Clinical Center for Arrhinia

Genetic Tests for Arrhinia

Anatomical Context for Arrhinia

Publications for Arrhinia

Articles related to Arrhinia:

# Title Authors Year
1
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. ( 26440771 )
2015
2
Use of distraction osteogenesis in arrhinia. ( 24670275 )
2014
3
Congenital absence of the nose: a case report and literature review. ( 11321738 )
2001
4
Surgical and prosthetic treatment of congenital absence of the nose: a case report. ( 9695167 )
1998
5
Congenital absence of the nose and nasal fossae. ( 2037692 )
1991
6
Congenital absence of the nose: a case report. ( 2759782 )
1989
7
Congenital absence of the nose and anterior nasopharynx. Report of two cases. ( 5032329 )
1972
8
Congenital absence of the nose: a case report. ( 6015674 )
1967

Variations for Arrhinia

Expression for Arrhinia

Search GEO for disease gene expression data for Arrhinia.

Pathways for Arrhinia

GO Terms for Arrhinia

Sources for Arrhinia

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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