MCID: ARR002
MIFTS: 12

Arrhinia

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Arrhinia

MalaCards integrated aliases for Arrhinia:

Name: Arrhinia 20 6
Congenital Absence of the Nose 20
Nose Agenesia 20

Classifications:



Summaries for Arrhinia

MalaCards based summary : Arrhinia, also known as congenital absence of the nose, is related to microphthalmia and bosma arhinia microphthalmia syndrome. An important gene associated with Arrhinia is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Related phenotype is pigmentation.

Wikipedia : 73 Arhinia is the congenital partial or complete absence of the nose at birth. It is an extremely rare... 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 microphthalmia 29.1 SMCHD1 PAX6
2 bosma arhinia microphthalmia syndrome 11.4
3 isolated arrhinia 11.0
4 coloboma of macula 10.0
5 cryptorchidism, unilateral or bilateral 10.0
6 fryns microphthalmia syndrome 9.9
7 hypogonadism 9.9

Graphical network of the top 20 diseases related to Arrhinia:



Diseases related to Arrhinia

Symptoms & Phenotypes for Arrhinia

MGI Mouse Phenotypes related to Arrhinia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 PAX6 SMCHD1

Drugs & Therapeutics for Arrhinia

Search Clinical Trials , NIH Clinical Center for Arrhinia

Genetic Tests for Arrhinia

Anatomical Context for Arrhinia

Publications for Arrhinia

Articles related to Arrhinia:

(show all 17)
# Title Authors PMID Year
1
Congenital arrhinia: A case report and literature review. 61
32417666 2020
2
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
3
The arrhinias: Proboscis lateralis literature review and surgical update. 61
31420283 2019
4
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. 61
26440771 2016
5
Diagnostic imaging features of congenital nose and nasal cavity lesions. 61
25095909 2015
6
Use of distraction osteogenesis in arrhinia. 61
24670275 2014
7
Holoprosencephaly spectrum among Egyptian patients: clinical and cytogenetic study. 61
25804014 2014
8
Synophthalmia in a Holstein cross calf. 61
25610588 2014
9
Holoprosencephaly with multiple anomalies of the craniofacial bones-an autopsy report. 61
24086891 2013
10
Persistence of a monosomic cell line in a fetus with mosaic trisomy 8. 61
21932320 2011
11
The Arrhinias. 61
19401938 2009
12
Atypical cyclopia in a brown swiss cross calf: a case report. 61
16677208 2006
13
[The rare malformation of nasal aplasia]. 61
16496112 2006
14
Mosaic trisomy 9 and lobar holoprosencephaly. 61
12210326 2002
15
Surgical and prosthetic treatment of congenital absence of the nose: a case report. 61
9695167 1998
16
Holoprosencephalic synophthalmia (cyclopia) in an 8 week fetus. 61
3597723 1987
17
Congenital respiratory tract defects in lambs. 61
1180774 1975

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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