MCID: ARL004
MIFTS: 20

Aural Atresia, Congenital

Categories: Genetic diseases

Aliases & Classifications for Aural Atresia, Congenital

MalaCards integrated aliases for Aural Atresia, Congenital:

Name: Aural Atresia, Congenital 57 75 29 13 6 40
Aural Atresia, Congenital, with Hyposmia 57 75
Caa 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
nonpenetrance has been observed


HPO:

32
aural atresia, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 607842
MedGen 42 C1842937
MeSH 44 D006314
SNOMED-CT via HPO 69 263681008 44057004 83156004

Summaries for Aural Atresia, Congenital

UniProtKB/Swiss-Prot : 75 Aural atresia, congenital: A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity.

MalaCards based summary : Aural Atresia, Congenital, also known as aural atresia, congenital, with hyposmia, is related to cerebral amyloid angiopathy, cst3-related and cerebral amyloid angiopathy, app-related. An important gene associated with Aural Atresia, Congenital is TSHZ1 (Teashirt Zinc Finger Homeobox 1). Related phenotypes are conductive hearing impairment and atresia of the external auditory canal

OMIM : 57 Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer et al., 1992). In CAA type I, there is bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity (summary by Feenstra et al., 2011). (607842)

Related Diseases for Aural Atresia, Congenital

Diseases related to Aural Atresia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 11.9
2 cerebral amyloid angiopathy, app-related 11.6
3 lysinuric protein intolerance 11.2
4 congenital analbuminemia 11.2
5 hereditary cerebral amyloid angiopathy 11.2
6 cerebritis 10.1
7 endotheliitis 10.1
8 schizophrenia 10.0
9 autosomal dominant cerebellar ataxia 9.9
10 neuronitis 9.9
11 mastoiditis 9.9
12 prostatitis 9.9
13 alzheimer disease 9.8
14 breast cancer 9.8
15 colorectal cancer 9.8
16 prostate cancer 9.8
17 aging 9.8
18 gastric cancer 9.8
19 thalassemia 9.8
20 catecholaminergic polymorphic ventricular tachycardia 9.8
21 ischemia 9.8
22 spinocerebellar ataxia 2 9.6
23 pancreatic cancer 9.6
24 cardiomyopathy, dilated, 1b 9.6
25 timothy syndrome 9.6
26 alpha-thalassemia 9.6
27 muscular dystrophy, congenital, 1b 9.6
28 gastrointestinal stromal tumor 9.6
29 pulmonary disease, chronic obstructive 9.6
30 spinocerebellar ataxia 17 9.6
31 coronary heart disease 1 9.6
32 myocardial infarction 9.6
33 acute myocardial infarction 9.6
34 bipolar disorder 9.6
35 brain ischemia 9.6
36 diabetes mellitus 9.6
37 dilated cardiomyopathy 9.6
38 hereditary spastic paraplegia 9.6
39 ameloblastoma 9.6
40 siderosis 9.6
41 heart disease 9.6
42 palindromic rheumatism 9.6
43 neonatal diabetes mellitus 9.6
44 urethritis 9.6
45 liposarcoma 9.6
46 pancreatitis 9.6
47 paraplegia 9.6
48 vasculitis 9.6
49 muscular dystrophy 9.6
50 sickle cell disease 9.6

Graphical network of the top 20 diseases related to Aural Atresia, Congenital:



Diseases related to Aural Atresia, Congenital

Symptoms & Phenotypes for Aural Atresia, Congenital

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
conductive hearing loss, bilateral
complete bony atresia of medial portion of external auditory canal (in some patients)
partial aplasia of external auditory canal ending in blind fistula (in some patients)
rudimentary tympanic membrane (in some patients)

Head And Neck Nose:
hyposmia
decreased odor sensitivity
decreased odor discrimination
normal odor identification


Clinical features from OMIM:

607842

Human phenotypes related to Aural Atresia, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 32 HP:0000405
2 atresia of the external auditory canal 32 HP:0000413
3 hyposmia 32 HP:0004409

Drugs & Therapeutics for Aural Atresia, Congenital

Search Clinical Trials , NIH Clinical Center for Aural Atresia, Congenital

Genetic Tests for Aural Atresia, Congenital

Genetic tests related to Aural Atresia, Congenital:

# Genetic test Affiliating Genes
1 Aural Atresia, Congenital 29 TSHZ1

Anatomical Context for Aural Atresia, Congenital

Publications for Aural Atresia, Congenital

Variations for Aural Atresia, Congenital

ClinVar genetic disease variations for Aural Atresia, Congenital:

6
(show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSHZ1 NM_005786.5(TSHZ1): c.946_947insA (p.Pro316Hisfs) insertion Pathogenic rs730882069 GRCh38 Chromosome 18, 75286488: 75286489
2 TSHZ1 NM_005786.5(TSHZ1): c.946_947insA (p.Pro316Hisfs) insertion Pathogenic rs730882069 GRCh37 Chromosome 18, 72998443: 72998444
3 TSHZ1 NM_005786.5(TSHZ1): c.723G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs730882070 GRCh37 Chromosome 18, 72998220: 72998220
4 TSHZ1 NM_005786.5(TSHZ1): c.723G> A (p.Trp241Ter) single nucleotide variant Pathogenic rs730882070 GRCh38 Chromosome 18, 75286265: 75286265
5 TSHZ1 NM_005786.5(TSHZ1): c.-443_-442dupAG duplication Uncertain significance rs376458726 GRCh38 Chromosome 18, 75210896: 75210897
6 TSHZ1 NM_005786.5(TSHZ1): c.-443_-442dupAG duplication Uncertain significance rs376458726 GRCh37 Chromosome 18, 72922851: 72922852
7 TSHZ1 NM_005786.5(TSHZ1): c.-443delA deletion Uncertain significance rs886054105 GRCh38 Chromosome 18, 75210896: 75210896
8 TSHZ1 NM_005786.5(TSHZ1): c.-443delA deletion Uncertain significance rs886054105 GRCh37 Chromosome 18, 72922851: 72922851
9 TSHZ1 NM_005786.5(TSHZ1): c.-439G> T single nucleotide variant Uncertain significance rs530328522 GRCh38 Chromosome 18, 75210900: 75210900
10 TSHZ1 NM_005786.5(TSHZ1): c.-439G> T single nucleotide variant Uncertain significance rs530328522 GRCh37 Chromosome 18, 72922855: 72922855
11 TSHZ1 NM_005786.5(TSHZ1): c.-336A> G single nucleotide variant Uncertain significance rs372174307 GRCh38 Chromosome 18, 75211003: 75211003
12 TSHZ1 NM_005786.5(TSHZ1): c.-336A> G single nucleotide variant Uncertain significance rs372174307 GRCh37 Chromosome 18, 72922958: 72922958
13 TSHZ1 NM_005786.5(TSHZ1): c.-328dupG duplication Uncertain significance rs376375268 GRCh38 Chromosome 18, 75211011: 75211011
14 TSHZ1 NM_005786.5(TSHZ1): c.-328dupG duplication Uncertain significance rs376375268 GRCh37 Chromosome 18, 72922966: 72922966
15 TSHZ1 NM_005786.5(TSHZ1): c.-189G> A single nucleotide variant Uncertain significance rs762506031 GRCh37 Chromosome 18, 72923105: 72923105
16 TSHZ1 NM_005786.5(TSHZ1): c.-189G> A single nucleotide variant Uncertain significance rs762506031 GRCh38 Chromosome 18, 75211150: 75211150
17 TSHZ1 NM_005786.5(TSHZ1): c.65C> T (p.Ala22Val) single nucleotide variant Likely benign rs543956737 GRCh38 Chromosome 18, 75285607: 75285607
18 TSHZ1 NM_005786.5(TSHZ1): c.65C> T (p.Ala22Val) single nucleotide variant Likely benign rs543956737 GRCh37 Chromosome 18, 72997562: 72997562
19 TSHZ1 NM_005786.5(TSHZ1): c.169T> G (p.Cys57Gly) single nucleotide variant Uncertain significance rs886054112 GRCh38 Chromosome 18, 75285711: 75285711
20 TSHZ1 NM_005786.5(TSHZ1): c.169T> G (p.Cys57Gly) single nucleotide variant Uncertain significance rs886054112 GRCh37 Chromosome 18, 72997666: 72997666
21 TSHZ1 NM_005786.5(TSHZ1): c.474A> G (p.Ala158=) single nucleotide variant Likely benign rs148319172 GRCh38 Chromosome 18, 75286016: 75286016
22 TSHZ1 NM_005786.5(TSHZ1): c.474A> G (p.Ala158=) single nucleotide variant Likely benign rs148319172 GRCh37 Chromosome 18, 72997971: 72997971
23 TSHZ1 NM_005786.5(TSHZ1): c.642G> A (p.Val214=) single nucleotide variant Likely benign rs148422389 GRCh38 Chromosome 18, 75286184: 75286184
24 TSHZ1 NM_005786.5(TSHZ1): c.642G> A (p.Val214=) single nucleotide variant Likely benign rs148422389 GRCh37 Chromosome 18, 72998139: 72998139
25 TSHZ1 NM_005786.5(TSHZ1): c.714C> G (p.Thr238=) single nucleotide variant Likely benign rs140283079 GRCh38 Chromosome 18, 75286256: 75286256
26 TSHZ1 NM_005786.5(TSHZ1): c.714C> G (p.Thr238=) single nucleotide variant Likely benign rs140283079 GRCh37 Chromosome 18, 72998211: 72998211
27 TSHZ1 NM_005786.5(TSHZ1): c.771T> C (p.Asp257=) single nucleotide variant Benign rs3744909 GRCh38 Chromosome 18, 75286313: 75286313
28 TSHZ1 NM_005786.5(TSHZ1): c.771T> C (p.Asp257=) single nucleotide variant Benign rs3744909 GRCh37 Chromosome 18, 72998268: 72998268
29 TSHZ1 NM_005786.5(TSHZ1): c.925C> T (p.Arg309Trp) single nucleotide variant Likely benign rs144240769 GRCh37 Chromosome 18, 72998422: 72998422
30 TSHZ1 NM_005786.5(TSHZ1): c.925C> T (p.Arg309Trp) single nucleotide variant Likely benign rs144240769 GRCh38 Chromosome 18, 75286467: 75286467
31 TSHZ1 NM_005786.5(TSHZ1): c.930G> A (p.Ala310=) single nucleotide variant Likely benign rs147846116 GRCh38 Chromosome 18, 75286472: 75286472
32 TSHZ1 NM_005786.5(TSHZ1): c.930G> A (p.Ala310=) single nucleotide variant Likely benign rs147846116 GRCh37 Chromosome 18, 72998427: 72998427
33 TSHZ1 NM_005786.5(TSHZ1): c.1179C> T (p.Thr393=) single nucleotide variant Likely benign rs73484103 GRCh38 Chromosome 18, 75286721: 75286721
34 TSHZ1 NM_005786.5(TSHZ1): c.1179C> T (p.Thr393=) single nucleotide variant Likely benign rs73484103 GRCh37 Chromosome 18, 72998676: 72998676
35 TSHZ1 NM_005786.5(TSHZ1): c.1390G> A (p.Val464Met) single nucleotide variant Likely benign rs199588905 GRCh38 Chromosome 18, 75286932: 75286932
36 TSHZ1 NM_005786.5(TSHZ1): c.1390G> A (p.Val464Met) single nucleotide variant Likely benign rs199588905 GRCh37 Chromosome 18, 72998887: 72998887
37 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh38 Chromosome 18, 75287915: 75287915
38 TSHZ1 NM_005786.5(TSHZ1): c.1402G> A (p.Ala468Thr) single nucleotide variant Benign rs33930274 GRCh38 Chromosome 18, 75286944: 75286944
39 TSHZ1 NM_005786.5(TSHZ1): c.1402G> A (p.Ala468Thr) single nucleotide variant Benign rs33930274 GRCh37 Chromosome 18, 72998899: 72998899
40 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh37 Chromosome 18, 72999870: 72999870
41 TSHZ1 NM_005786.5(TSHZ1): c.*975G> T single nucleotide variant Benign rs80211274 GRCh38 Chromosome 18, 75289616: 75289616
42 TSHZ1 NM_005786.5(TSHZ1): c.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh38 Chromosome 18, 75287250: 75287250
43 TSHZ1 NM_005786.5(TSHZ1): c.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh37 Chromosome 18, 72999205: 72999205
44 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh38 Chromosome 18, 75287404: 75287404
45 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh37 Chromosome 18, 72999359: 72999359
46 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh38 Chromosome 18, 75287620: 75287620
47 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh37 Chromosome 18, 72999575: 72999575
48 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh38 Chromosome 18, 75287805: 75287805
49 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh37 Chromosome 18, 72999760: 72999760
50 TSHZ1 NM_005786.5(TSHZ1): c.*975G> T single nucleotide variant Benign rs80211274 GRCh37 Chromosome 18, 73001571: 73001571

Expression for Aural Atresia, Congenital

Search GEO for disease gene expression data for Aural Atresia, Congenital.

Pathways for Aural Atresia, Congenital

GO Terms for Aural Atresia, Congenital

Sources for Aural Atresia, Congenital

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