CAA
MCID: ARL004
MIFTS: 32

Aural Atresia, Congenital (CAA)

Categories: Ear diseases, 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
Congenital Aural Atresia 37

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
KEGG 37 H02115
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). Affiliated tissues include bone, skin and brain, and 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 62)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 12.0
2 cerebral amyloid angiopathy, app-related 11.7
3 lysinuric protein intolerance 11.4
4 congenital analbuminemia 11.4
5 hereditary cerebral amyloid angiopathy 11.4
6 microtia 10.5
7 schizophrenia 10.2
8 autosomal dominant cerebellar ataxia 10.2
9 chromosome 22q11.2 duplication syndrome 10.0
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
11 osteopetrosis 10.0
12 mastoiditis 10.0
13 thrombosis 10.0
14 sensorineural hearing loss 10.0
15 alzheimer disease 10.0
16 breast cancer 10.0
17 colorectal cancer 10.0
18 prostate cancer 10.0
19 spinocerebellar ataxia 2 10.0
20 gastric cancer 10.0
21 thalassemia 10.0
22 catecholaminergic polymorphic ventricular tachycardia 10.0
23 ischemia 10.0
24 hepatocellular carcinoma 9.8
25 carney complex, type 1 9.8
26 pancreatic cancer 9.8
27 ataxia and polyneuropathy, adult-onset 9.8
28 aging 9.8
29 cardiomyopathy, dilated, 1b 9.8
30 timothy syndrome 9.8
31 alpha-thalassemia 9.8
32 caronte 9.8
33 muscular dystrophy, congenital, 1b 9.8
34 gastrointestinal stromal tumor 9.8
35 pulmonary disease, chronic obstructive 9.8
36 spinocerebellar ataxia 17 9.8
37 coronary heart disease 1 9.8
38 myocardial infarction 9.8
39 acute myocardial infarction 9.8
40 bipolar disorder 9.8
41 brain ischemia 9.8
42 diabetes mellitus 9.8
43 dilated cardiomyopathy 9.8
44 hereditary spastic paraplegia 9.8
45 ameloblastoma 9.8
46 siderosis 9.8
47 heart disease 9.8
48 palindromic rheumatism 9.8
49 neonatal diabetes mellitus 9.8
50 schistosomiasis 9.8

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 Nose:
hyposmia
decreased odor sensitivity
decreased odor discrimination
normal odor identification

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)


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

MalaCards organs/tissues related to Aural Atresia, Congenital:

41
Bone, Skin, Brain, Testes, Heart, Breast, Prostate

Publications for Aural Atresia, Congenital

Articles related to Aural Atresia, Congenital:

(show top 50) (show all 112)
# Title Authors Year
1
Analysis of Inner Ear Anomalies in Unilateral Congenital Aural Atresia Combined With Microtia. ( 30403837 )
2018
2
Vibrant SoundBridge combined with auricle reconstruction for bilateral congenital aural atresia. ( 27260613 )
2016
3
Contemporary solutions for patients with microtia and congenital aural atresia - Hong Kong experience. ( 29937825 )
2016
4
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy. ( 27170934 )
2016
5
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. ( 25655429 )
2015
6
Objective and Subjective Improvement of Hearing in Noise After Surgical Correction of Unilateral Congenital Aural Atresia in Pediatric Patients: A Prospective Study Using the Hearing in Noise Test, the Sound-Spatial-Quality Questionnaire, and the Glasgow Benefit Inventory. ( 25695924 )
2015
7
A New Flap Technique for Reconstruction of Microtia and Congenital Aural Atresia. ( 27011544 )
2015
8
The positional relationship between facial nerve and round window niche in patients with congenital aural atresia and stenosis. ( 25762353 )
2015
9
Surgical treatment of congenital aural atresia - is it still justified? ( 25625335 )
2015
10
The round window diameter in congenital aural atresia and comparison with sensorineural hearing loss and control group. ( 24681859 )
2014
11
Congenital aural atresia and stenosis: surgery strategies and long-term results. ( 24909697 )
2014
12
Acquired ear canal cholesteatoma in congenital aural atresia/stenosis. ( 25080039 )
2014
13
Bone-Anchored Hearing Aid vs. Reconstruction of the External Auditory Canal in Children and Adolescents with Congenital Aural Atresia: A Comparison Study of Outcomes. ( 24479110 )
2014
14
Sound localization performance improves after canaloplasty in unilateral congenital aural atresia patients. ( 24557035 )
2014
15
Fibrous incudostapedial joint in congenital aural atresia. ( 24449795 )
2014
16
Vibrant Soundbridge implantation via the third window in two Chinese patients with severe bilateral congenital aural atresia. ( 24102227 )
2014
17
Applications of titanium mesh tubing in external ear canal reconstruction in congenital aural atresia. ( 24442665 )
2014
18
Hearing stimulation of the pediatric patient with congenital aural atresia: Surgical and audiological evaluation of 38 patients. ( 25818960 )
2014
19
The "boomerang" malleus-incus complex in congenital aural atresia. ( 24994825 )
2014
20
Prognostic factors for long-term hearing preservation after canal-tympanoplasty for congenital aural atresia. ( 25323150 )
2014
21
Supermicrosurgical reconstruction for congenital aural atresia using a pure skin perforator flap: concept and long-term results. ( 23714796 )
2013
22
Canalization and maintaining the patency of external auditory canal in a congenital aural atresia patient: a multidisciplinary approach. ( 24431722 )
2013
23
Congenital aural atresia. ( 23851888 )
2013
24
Hearing outcomes of atresia surgery versus osseointegrated bone conduction device in patients with congenital aural atresia: a systematic review. ( 24005171 )
2013
25
The location of the mastoid portion of the facial nerve in patients with congenital aural atresia. ( 23793597 )
2013
26
Grading system for the selection of patients with congenital aural atresia for active middle ear implants. ( 23604757 )
2013
27
Anatomic variants on computed tomography in congenital aural atresia. ( 22467282 )
2012
28
Development and validation of a multidimensional quality of life questionnaire for congenital aural atresia. ( 22497585 )
2012
29
Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report. ( 22731118 )
2012
30
Congenital aural atresia surgery: transmastoid approach, complications and outcomes. ( 21984060 )
2012
31
22q11.2 microduplication syndrome with congenital aural atresia: a family report. ( 22429940 )
2012
32
Congenital aural atresia: bone-anchored hearing aid vs. external auditory canal reconstruction. ( 22177319 )
2012
33
Microtia and congenital aural atresia. ( 23147281 )
2012
34
Congenital aural atresia treated with floating mass transducer on the round window: 5 years of imaging experience. ( 22095420 )
2012
35
Long-term stent use can prevent postoperative canal stenosis in patients with congenital aural atresia. ( 22020788 )
2012
36
Strategies of active middle ear implants for hearing rehabilitation in congenital aural atresia. ( 21436753 )
2011
37
Bone-anchored hearing aids (Baha) in congenital aural atresia: personal experience. ( 21236498 )
2011
38
Pure skin perforator flap for microtia and congenital aural atresia using supermicrosurgical techniques. ( 21900061 )
2011
39
Middle ear volume as an adjunct measure in congenital aural atresia. ( 21570132 )
2011
40
Congenital aural atresia with ectopic tooth. ( 21436755 )
2011
41
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. ( 22152683 )
2011
42
Facial nerve lying lateral to ossicles in one case of congenital aural atresia. ( 21281971 )
2011
43
Atresiaplasty versus BAHA for congenital aural atresia. ( 21181977 )
2011
44
Continuity of the incudostapedial joint: a novel prognostic factor in postoperative hearing outcomes in congenital aural atresia. ( 21351820 )
2011
45
Inner ear anomalies in congenital aural atresia. ( 21113986 )
2010
46
Congenital aural atresia reconstruction: a surgical procedure with a long history. ( 19345624 )
2010
47
Malleus bar: an unusual ossicular abnormality in the setting of congenital aural atresia. ( 20061990 )
2010
48
Hearing rehabilitation in congenital aural atresia using the bone-anchored hearing aid: audiological and satisfaction results. ( 20735185 )
2010
49
Middle ear dimensions in congenital aural atresia and hearing outcomes after atresiaplasty. ( 20684058 )
2010
50
Partial ossicular replacement versus type II tympanoplasty in congenital aural atresia surgery: a matched group study. ( 19503009 )
2009

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 GRCh38 Chromosome 18, 75211150: 75211150
16 TSHZ1 NM_005786.5(TSHZ1): c.-189G> A single nucleotide variant Uncertain significance rs762506031 GRCh37 Chromosome 18, 72923105: 72923105
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 GRCh38 Chromosome 18, 75286467: 75286467
30 TSHZ1 NM_005786.5(TSHZ1): c.925C> T (p.Arg309Trp) single nucleotide variant Likely benign rs144240769 GRCh37 Chromosome 18, 72998422: 72998422
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.1402G> A (p.Ala468Thr) single nucleotide variant Benign rs33930274 GRCh38 Chromosome 18, 75286944: 75286944
38 TSHZ1 NM_005786.5(TSHZ1): c.1402G> A (p.Ala468Thr) single nucleotide variant Benign rs33930274 GRCh37 Chromosome 18, 72998899: 72998899
39 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh38 Chromosome 18, 75287805: 75287805
40 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh37 Chromosome 18, 72999760: 72999760
41 TSHZ1 NM_005786.5(TSHZ1): c.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh38 Chromosome 18, 75287250: 75287250
42 TSHZ1 NM_005786.5(TSHZ1): c.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh37 Chromosome 18, 72999205: 72999205
43 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh38 Chromosome 18, 75287404: 75287404
44 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh37 Chromosome 18, 72999359: 72999359
45 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh38 Chromosome 18, 75287620: 75287620
46 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh37 Chromosome 18, 72999575: 72999575
47 TSHZ1 NM_005786.5(TSHZ1): c.2322G> A (p.Pro774=) single nucleotide variant Likely benign rs139943074 GRCh38 Chromosome 18, 75287864: 75287864
48 TSHZ1 NM_005786.5(TSHZ1): c.2322G> A (p.Pro774=) single nucleotide variant Likely benign rs139943074 GRCh37 Chromosome 18, 72999819: 72999819
49 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh38 Chromosome 18, 75287915: 75287915
50 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh37 Chromosome 18, 72999870: 72999870

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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