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 58 76 30 13 6 41
Aural Atresia, Congenital, with Hyposmia 58 76
Caa 58 76
Congenital Aural Atresia 38

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonpenetrance has been observed


HPO:

33
aural atresia, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607842
KEGG 38 H02115
MeSH 45 D006314
MedGen 43 C1842937
SNOMED-CT via HPO 70 263681008 44057004 83156004

Summaries for Aural Atresia, Congenital

UniProtKB/Swiss-Prot : 76 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 heart, prostate and skin, and related phenotypes are conductive hearing impairment and atresia of the external auditory canal

OMIM : 58 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 all 44)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 12.1
2 cerebral amyloid angiopathy, app-related 11.8
3 hereditary cerebral amyloid angiopathy 11.4
4 lysinuric protein intolerance 11.4
5 congenital analbuminemia 11.4
6 microtia 10.5
7 cholesteatoma of middle ear 10.4
8 schistosomiasis 10.3
9 schizophrenia 10.3
10 mastoiditis 10.3
11 autosomal dominant cerebellar ataxia 10.3
12 spinocerebellar ataxia 17 10.1
13 thalassemia 10.1
14 alzheimer disease 10.1
15 spinocerebellar ataxia 2 10.1
16 ataxia and polyneuropathy, adult-onset 10.1
17 helix syndrome 10.1
18 siderosis 10.1
19 superficial siderosis 10.1
20 chromosome 18p deletion syndrome 10.1
21 chromosome 22q11.2 duplication syndrome 10.1
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
23 osteopetrosis 10.1
24 thrombosis 10.1
25 sensorineural hearing loss 10.1
26 facial paralysis 10.1
27 hepatocellular carcinoma 9.9
28 carney complex, type 1 9.9
29 prostate cancer 9.9
30 prostate cancer, hereditary, 8 9.9
31 alpha-thalassemia 9.9
32 caronte 9.9
33 coronary heart disease 1 9.9
34 prostate cancer, hereditary, 6 9.9
35 beta-thalassemia 9.9
36 bipolar disorder 9.9
37 hereditary spastic paraplegia 9.9
38 ameloblastoma 9.9
39 heart disease 9.9
40 paraplegia 9.9
41 vasculitis 9.9
42 coronary artery aneurysm 9.9
43 depression 9.9
44 paresthesia 9.9

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



Diseases related to Aural Atresia, Congenital

Symptoms & Phenotypes for Aural Atresia, Congenital

Human phenotypes related to Aural Atresia, Congenital:

33
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 33 HP:0000405
2 atresia of the external auditory canal 33 HP:0000413
3 hyposmia 33 HP:0004409

Symptoms via clinical synopsis from OMIM:

58
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

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 30 TSHZ1

Anatomical Context for Aural Atresia, Congenital

MalaCards organs/tissues related to Aural Atresia, Congenital:

42
Heart, Prostate, Skin, Brain, Testes, Liver, Cortex

Publications for Aural Atresia, Congenital

Articles related to Aural Atresia, Congenital:

(show top 50) (show all 283)
# Title Authors Year
1
Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy. ( 30868685 )
2019
2
Analysis of Inner Ear Anomalies in Unilateral Congenital Aural Atresia Combined With Microtia. ( 30403837 )
2019
3
Implications of cortical superficial siderosis in CAA: Superficial relationships. ( 30674588 )
2019
4
Carvedilol (CAR) combined with carnosic acid (CAA) attenuates doxorubicin-induced cardiotoxicity by suppressing excessive oxidative stress, inflammation, apoptosis and autophagy. ( 30396094 )
2019
5
A variable temperature infrared spectroscopy study of CaA zeolite dehydration and carbonate formation. ( 30237130 )
2019
6
Performance of an Ultra-Sensitive Assay Targeting the Circulating Anodic Antigen (CAA) for Detection of Schistosoma mansoni Infection in a Low Endemic Area in Brazil. ( 31019510 )
2019
7
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
8
Intravenous injection of beta-amyloid seeds promotes cerebral amyloid angiopathy (CAA). ( 29506560 )
2018
9
Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2. ( 29756284 )
2018
10
Association of CAA and TATC Insertion/Deletion Genetic Polymorphisms in RTN4 3'-UTR with Hepatocellular Carcinoma Risk. ( 28144881 )
2018
11
Modification of the cellular antioxidant activity (CAA) assay to study phenolic antioxidants in a Caco-2 cell line. ( 29120793 )
2018
12
CT scanning to diagnose CAA: back to the future? ( 29331632 )
2018
13
Improved diagnosis of active Schistosoma infection in travellers and migrants using the ultra-sensitive in-house lateral flow test for detection of circulating anodic antigen (CAA) in serum. ( 29974279 )
2018
14
Time estimations by network of beta globin gene cluster haplotypes linked with Hb D-Los Angeles [β121 (GH4) Glu → Gln GAA → CAA] mutation in the world populations. ( 30417580 )
2018
15
Teaching Neuroimages: Inflammatory CAA. ( 30542759 )
2018
16
Clinical Characterization of Canine Acanthomatous Ameloblastoma (CAA) in 263 dogs and the Influence of Postsurgical Histopathological Margin on Local Recurrence. ( 28978273 )
2017
17
Ischemic lesions and superficial siderosis in CAA: Partners in crime or innocent bystanders? ( 29070660 )
2017
18
Defining early CAA: insights from a rare monogenic disorder. ( 27989552 )
2017
19
Can brain impermeable BACE1 inhibitors serve as anti-CAA medicine? ( 28841840 )
2017
20
Utilizing the ultrasensitive Schistosoma up-converting phosphor lateral flow circulating anodic antigen (UCP-LF CAA) assay for sample pooling-strategies. ( 29089064 )
2017
21
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. ( 27000221 )
2016
22
Contemporary solutions for patients with microtia and congenital aural atresia - Hong Kong experience. ( 29937825 )
2016
23
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy. ( 27170934 )
2016
24
Cerebral Amyloid Angiopathy (CAA)-Related Inflammation: Comparison of Inflammatory CAA and Amyloid-β-Related Angiitis. ( 26890776 )
2016
25
Analysis of the population genetic structure of Hb D-Los Angeles [β121 (GH4) Glu→Gln GAA→CAA] in Denizli, Turkey; genetic diversity, historical demography and estimation of the mutation rates based on haplotype variation. ( 26680249 )
2016
26
Cardiolipin deficiency causes a dissociation of the b 6 c:caa 3 megacomplex in B. subtilis membranes. ( 27503613 )
2016
27
From Caá-ehé to a commercial sweetener - the diterpenoid glycosides of Stevia rebaudiana. ( 28742480 )
2016
28
The positional relationship between facial nerve and round window niche in patients with congenital aural atresia and stenosis. ( 25762353 )
2016
29
Vibrant SoundBridge combined with auricle reconstruction for bilateral congenital aural atresia. ( 27260613 )
2016
30
A New Flap Technique for Reconstruction of Microtia and Congenital Aural Atresia. ( 27011544 )
2015
31
An elderly patient with recurrent episodes of hemi-paresthesia. Cerebral amyloid angiopathy (CAA). ( 25592722 )
2015
32
The CAA repeat polymorphism in the ZFHX3 gene is associated with risk of coronary heart disease in a Chinese population. ( 25797214 )
2015
33
Cross-talk between Aβ and endothelial SSAO/VAP-1 accelerates vascular damage and Aβ aggregation related to CAA-AD. ( 25457560 )
2015
34
Answering the call for improved chemical alternatives assessments (CAA). ( 25625882 )
2015
35
Improved sensitivity of the urine CAA lateral-flow assay for diagnosing active Schistosoma infections by using larger sample volumes. ( 25896512 )
2015
36
Effect of consecutive alternating administration (CAA) of a triple anti-enteroviral combination on Coxsackievirus B1 neuroinfection in mice. ( 26196747 )
2015
37
In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats. ( 26270660 )
2015
38
Applications of titanium mesh tubing in external ear canal reconstruction in congenital aural atresia. ( 24442665 )
2015
39
Prognostic factors for long-term hearing preservation after canal-tympanoplasty for congenital aural atresia. ( 25323150 )
2015
40
Surgical treatment of congenital aural atresia - is it still justified? ( 25625335 )
2015
41
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletion. ( 25655429 )
2015
42
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
43
The round window diameter in congenital aural atresia and comparison with sensorineural hearing loss and control group. ( 24681859 )
2014
44
APOE associations with severe CAA-associated vasculopathic changes: collaborative meta-analysis. ( 24163429 )
2014
45
Steven Greenberg: putting CAA on the map. ( 24646870 )
2014
46
Acquired ear canal cholesteatoma in congenital aural atresia/stenosis. ( 25080039 )
2014
47
The extent of inferior displacement of the mastoid tegmen is related to the severity of congenital aural atresia. ( 24433058 )
2014
48
The location of the mastoid portion of the facial nerve in patients with congenital aural atresia. ( 23793597 )
2014
49
Fibrous incudostapedial joint in congenital aural atresia. ( 24449795 )
2014
50
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

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 rs66582660 GRCh38 Chromosome 18, 75211011: 75211011
14 TSHZ1 NM_005786.5(TSHZ1): c.-328dupG duplication Uncertain significance rs66582660 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.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh38 Chromosome 18, 75287250: 75287250
40 TSHZ1 NM_005786.5(TSHZ1): c.1708G> A (p.Ala570Thr) single nucleotide variant Likely benign rs149729975 GRCh37 Chromosome 18, 72999205: 72999205
41 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh38 Chromosome 18, 75287404: 75287404
42 TSHZ1 NM_005786.5(TSHZ1): c.1862T> C (p.Leu621Pro) single nucleotide variant Benign rs55679337 GRCh37 Chromosome 18, 72999359: 72999359
43 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh38 Chromosome 18, 75287620: 75287620
44 TSHZ1 NM_005786.5(TSHZ1): c.2078C> T (p.Pro693Leu) single nucleotide variant Uncertain significance rs370322226 GRCh37 Chromosome 18, 72999575: 72999575
45 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh38 Chromosome 18, 75287805: 75287805
46 TSHZ1 NM_005786.5(TSHZ1): c.2263C> T (p.Arg755Cys) single nucleotide variant Likely benign rs199676563 GRCh37 Chromosome 18, 72999760: 72999760
47 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh38 Chromosome 18, 75287915: 75287915
48 TSHZ1 NM_005786.5(TSHZ1): c.2373A> G (p.Ala791=) single nucleotide variant Likely benign rs78961991 GRCh37 Chromosome 18, 72999870: 72999870
49 TSHZ1 NM_005786.5(TSHZ1): c.*975G> T single nucleotide variant Benign rs80211274 GRCh38 Chromosome 18, 75289616: 75289616
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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