MCID: ARH001
MIFTS: 15

Arhinia Choanal Atresia Microphthalmia

Categories: Rare diseases, Smell/Taste diseases

Aliases & Classifications for Arhinia Choanal Atresia Microphthalmia

MalaCards integrated aliases for Arhinia Choanal Atresia Microphthalmia:

Name: Arhinia Choanal Atresia Microphthalmia 54 30 6
Congenital Absence of Nose and Anterior Nasopharynx 54
Arhinia, Choanal Atresia, and Microphthalmia 74
Bosma Arhinia Microphthalmia Syndrome 54
Bosma Henkin Christiansen Syndrome 54

Classifications:



External Ids:

UMLS 74 C1863878

Summaries for Arhinia Choanal Atresia Microphthalmia

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1135Disease definitionArhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.Visit the Orphanet disease page for more resources.

MalaCards based summary : Arhinia Choanal Atresia Microphthalmia, also known as congenital absence of nose and anterior nasopharynx, is related to bosma arhinia microphthalmia syndrome and microphthalmia. An important gene associated with Arhinia Choanal Atresia Microphthalmia is SMCHD1 (Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 1). Affiliated tissues include eye.

Related Diseases for Arhinia Choanal Atresia Microphthalmia

Diseases related to Arhinia Choanal Atresia Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bosma arhinia microphthalmia syndrome 12.0
2 microphthalmia 10.8
3 facioscapulohumeral muscular dystrophy 2 10.6
4 muscular dystrophy 10.6

Symptoms & Phenotypes for Arhinia Choanal Atresia Microphthalmia

Drugs & Therapeutics for Arhinia Choanal Atresia Microphthalmia

Search Clinical Trials , NIH Clinical Center for Arhinia Choanal Atresia Microphthalmia

Genetic Tests for Arhinia Choanal Atresia Microphthalmia

Genetic tests related to Arhinia Choanal Atresia Microphthalmia:

# Genetic test Affiliating Genes
1 Arhinia Choanal Atresia Microphthalmia 30 SMCHD1

Anatomical Context for Arhinia Choanal Atresia Microphthalmia

MalaCards organs/tissues related to Arhinia Choanal Atresia Microphthalmia:

42
Eye

Publications for Arhinia Choanal Atresia Microphthalmia

Articles related to Arhinia Choanal Atresia Microphthalmia:

(show all 14)
# Title Authors Year
1
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. ( 28067909 )
2017
2
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. ( 28067911 )
2017
3
Bosma arrhinia microphthalmia syndrome in a Mexican patient with a molecular analysis of PAX6. ( 26440771 )
2016
4
Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. ( 26842768 )
2016
5
Congenital arhinia. ( 23852095 )
2014
6
Hypogonadotropic hypogonadism presenting with arhinia: a case report. ( 23432817 )
2013
7
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. ( 23143600 )
2012
8
Bosma arhinia microphthalmia syndrome. ( 16353241 )
2006
9
Congenital absence of the nose: a case report and literature review. ( 11321738 )
2001
10
Familial arhinia, choanal atresia, and microphthalmia. ( 8723126 )
1996
11
Simultaneous construction of an internal and external nose in an infant with arhinia. ( 8446727 )
1993
12
Hypoplasia of the nose and eyes, hyposmia, hypogeusia, and hypogonadotrophic hypogonadism in two males. ( 6802865 )
1981
13
[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)]. ( 672092 )
1978
14
Congenital absence of the nose and anterior nasopharynx. Report of two cases. ( 5032329 )
1972

Variations for Arhinia Choanal Atresia Microphthalmia

ClinVar genetic disease variations for Arhinia Choanal Atresia Microphthalmia:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 SMCHD1 NM_015295.2(SMCHD1): c.1655G> A (p.Arg552Gln) single nucleotide variant Uncertain significance rs886042392 GRCh37 Chromosome 18, 2703697: 2703697
2 SMCHD1 NM_015295.2(SMCHD1): c.1655G> A (p.Arg552Gln) single nucleotide variant Uncertain significance rs886042392 GRCh38 Chromosome 18, 2703699: 2703699
3 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh38 Chromosome 18, 2694687: 2694687
4 SMCHD1 NM_015295.2(SMCHD1): c.1034A> G (p.Gln345Arg) single nucleotide variant Pathogenic rs1057519639 GRCh37 Chromosome 18, 2694685: 2694685
5 SMCHD1 NM_015295.2(SMCHD1): c.1043A> G (p.His348Arg) single nucleotide variant Pathogenic rs1057519640 GRCh38 Chromosome 18, 2697034: 2697034
6 SMCHD1 NM_015295.2(SMCHD1): c.1043A> G (p.His348Arg) single nucleotide variant Pathogenic rs1057519640 GRCh37 Chromosome 18, 2697032: 2697032
7 SMCHD1 NM_015295.2(SMCHD1): c.423G> C (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
8 SMCHD1 NM_015295.2(SMCHD1): c.423G> C (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh37 Chromosome 18, 2667029: 2667029
9 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh38 Chromosome 18, 2697898: 2697898
10 SMCHD1 NM_015295.2(SMCHD1): c.1199A> T (p.Gln400Leu) single nucleotide variant Pathogenic rs1057519642 GRCh37 Chromosome 18, 2697896: 2697896
11 SMCHD1 NM_015295.2(SMCHD1): c.408A> C (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519643 GRCh38 Chromosome 18, 2667015: 2667015
12 SMCHD1 NM_015295.2(SMCHD1): c.408A> C (p.Glu136Asp) single nucleotide variant Pathogenic rs1057519643 GRCh37 Chromosome 18, 2667014: 2667014
13 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh38 Chromosome 18, 2667017: 2667017
14 SMCHD1 NM_015295.2(SMCHD1): c.410G> A (p.Gly137Glu) single nucleotide variant Pathogenic rs1057519644 GRCh37 Chromosome 18, 2667016: 2667016
15 SMCHD1 NM_015295.2(SMCHD1): c.403A> T (p.Ser135Cys) single nucleotide variant Pathogenic rs1057519645 GRCh38 Chromosome 18, 2667010: 2667010
16 SMCHD1 NM_015295.2(SMCHD1): c.403A> T (p.Ser135Cys) single nucleotide variant Pathogenic rs1057519645 GRCh37 Chromosome 18, 2667009: 2667009
17 SMCHD1 NM_015295.2(SMCHD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
18 SMCHD1 NM_015295.2(SMCHD1): c.404G> A (p.Ser135Asn) single nucleotide variant Pathogenic rs1057519646 GRCh37 Chromosome 18, 2667010: 2667010
19 SMCHD1 NM_015295.2(SMCHD1): c.404G> T (p.Ser135Ile) single nucleotide variant Pathogenic rs1057519646 GRCh38 Chromosome 18, 2667011: 2667011
20 SMCHD1 NM_015295.2(SMCHD1): c.404G> T (p.Ser135Ile) single nucleotide variant Pathogenic rs1057519646 GRCh37 Chromosome 18, 2667010: 2667010
21 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh38 Chromosome 18, 2666927: 2666927
22 SMCHD1 NM_015295.2(SMCHD1): c.320T> C (p.Leu107Pro) single nucleotide variant Pathogenic rs1135402737 GRCh37 Chromosome 18, 2666926: 2666926
23 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh38 Chromosome 18, 2666993: 2666993
24 SMCHD1 NM_015295.2(SMCHD1): c.386T> A (p.Met129Lys) single nucleotide variant Pathogenic rs1135402738 GRCh37 Chromosome 18, 2666992: 2666992
25 SMCHD1 NM_015295.2(SMCHD1): c.415A> C (p.Asn139His) single nucleotide variant Pathogenic rs1135402739 GRCh38 Chromosome 18, 2667022: 2667022
26 SMCHD1 NM_015295.2(SMCHD1): c.415A> C (p.Asn139His) single nucleotide variant Pathogenic rs1135402739 GRCh37 Chromosome 18, 2667021: 2667021
27 SMCHD1 NM_015295.2(SMCHD1): c.423G> T (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh38 Chromosome 18, 2667030: 2667030
28 SMCHD1 NM_015295.2(SMCHD1): c.423G> T (p.Leu141Phe) single nucleotide variant Pathogenic rs1057519641 GRCh37 Chromosome 18, 2667029: 2667029
29 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh38 Chromosome 18, 2674018: 2674018
30 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh37 Chromosome 18, 2674017: 2674017
31 SMCHD1 NM_015295.2(SMCHD1): c.725C> G (p.Ala242Gly) single nucleotide variant Pathogenic rs1135402741 GRCh37 Chromosome 18, 2688478: 2688478
32 SMCHD1 NM_015295.2(SMCHD1): c.725C> G (p.Ala242Gly) single nucleotide variant Pathogenic rs1135402741 GRCh38 Chromosome 18, 2688480: 2688480
33 SMCHD1 NM_015295.2(SMCHD1): c.1259A> T (p.Asp420Val) single nucleotide variant Pathogenic rs1135402742 GRCh38 Chromosome 18, 2697958: 2697958
34 SMCHD1 NM_015295.2(SMCHD1): c.1259A> T (p.Asp420Val) single nucleotide variant Pathogenic rs1135402742 GRCh37 Chromosome 18, 2697956: 2697956
35 SMCHD1 NM_015295.2(SMCHD1): c.1417G> C (p.Glu473Gln) single nucleotide variant Pathogenic rs1135402743 GRCh38 Chromosome 18, 2700613: 2700613
36 SMCHD1 NM_015295.2(SMCHD1): c.1417G> C (p.Glu473Gln) single nucleotide variant Pathogenic rs1135402743 GRCh37 Chromosome 18, 2700611: 2700611
37 SMCHD1 NM_015295.2(SMCHD1): c.1568C> A (p.Thr523Lys) single nucleotide variant Pathogenic rs1135402744 GRCh37 Chromosome 18, 2700837: 2700837
38 SMCHD1 NM_015295.2(SMCHD1): c.1568C> A (p.Thr523Lys) single nucleotide variant Pathogenic rs1135402744 GRCh38 Chromosome 18, 2700839: 2700839
39 SMCHD1 NM_015295.2(SMCHD1): c.1571A> G (p.Asn524Ser) single nucleotide variant Pathogenic rs1135402745 GRCh37 Chromosome 18, 2700840: 2700840
40 SMCHD1 NM_015295.2(SMCHD1): c.1571A> G (p.Asn524Ser) single nucleotide variant Pathogenic rs1135402745 GRCh38 Chromosome 18, 2700842: 2700842

Expression for Arhinia Choanal Atresia Microphthalmia

Search GEO for disease gene expression data for Arhinia Choanal Atresia Microphthalmia.

Pathways for Arhinia Choanal Atresia Microphthalmia

GO Terms for Arhinia Choanal Atresia Microphthalmia

Sources for Arhinia Choanal Atresia Microphthalmia

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