MCID: ARR002
MIFTS: 12

Arrhinia

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Arrhinia

MalaCards integrated aliases for Arrhinia:

Name: Arrhinia 54
Congenital Absence of the Nose 54
Nose Agenesia 54

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 : 77 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 11.5
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 )
2016
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
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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