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 53 29 6
Congenital Absence of Nose and Anterior Nasopharynx 53
Arhinia, Choanal Atresia, and Microphthalmia 72
Bosma Arhinia Microphthalmia Syndrome 53
Bosma Henkin Christiansen Syndrome 53

Classifications:



External Ids:

UMLS 72 C1863878

Summaries for Arhinia Choanal Atresia Microphthalmia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1135DefinitionA 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).

Related Diseases for Arhinia Choanal Atresia Microphthalmia

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 bosma arhinia microphthalmia syndrome 12.1
2 microphthalmia 10.9
3 muscular dystrophy 10.8
4 facioscapulohumeral muscular dystrophy 1 10.7
5 facioscapulohumeral muscular dystrophy 2 10.7
6 hypogonadotropic hypogonadism 10.6
7 hypogonadism 10.6
8 hypogonadotropism 10.6
9 coloboma of macula 10.4
10 cryptorchidism, unilateral or bilateral 10.4
11 inguinal hernia 10.4
12 colobomatous microphthalmia 10.4

Graphical network of the top 20 diseases related to Arhinia Choanal Atresia Microphthalmia:



Diseases related to Arhinia Choanal Atresia Microphthalmia

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 29 SMCHD1

Anatomical Context for Arhinia Choanal Atresia Microphthalmia

Publications for Arhinia Choanal Atresia Microphthalmia

Articles related to Arhinia Choanal Atresia Microphthalmia:

# Title Authors PMID Year
1
Familial arhinia, choanal atresia, and microphthalmia. 38
8723126 1996

Variations for Arhinia Choanal Atresia Microphthalmia

ClinVar genetic disease variations for Arhinia Choanal Atresia Microphthalmia:

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

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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73 UMLS via Orphanet
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