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 72 29 13 6 39
Aural Atresia, Congenital, with Hyposmia 57 72
Caa 57 72
Congenital Aural Atresia 36

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
nonpenetrance has been observed


HPO:

31
aural atresia, congenital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 607842
KEGG 36 H02115
MeSH 44 D006314
MedGen 41 C1842937
SNOMED-CT via HPO 68 263681008 44057004 83156004

Summaries for Aural Atresia, Congenital

UniProtKB/Swiss-Prot : 72 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, heart and olfactory bulb, 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) (Updated 20-May-2021)

KEGG : 36 Congenital aural atresia (CAA) is an autosomal dominant defect that is characterized by hypoplasia of the external auditory canal, often in association with dysmorphic features of auricle, middle ear, and, occasionally, the inner ear structures. Recently, heterozygous mutations in TSHZ1 was described to cause CAA in human. TSHZ1 has been shown to be important for murine middle-ear development.

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 110)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 11.5
2 cerebral amyloid angiopathy, app-related 11.3
3 lysinuric protein intolerance 11.3
4 analbuminemia 11.3
5 hereditary cerebral amyloid angiopathy 11.0
6 cerebral amyloid angiopathy, itm2b-related, 2 10.9
7 cerebral amyloid angiopathy, itm2b-related, 1 10.9
8 microtia 10.7
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
10 sensorineural hearing loss 10.5
11 facial paralysis 10.5
12 cholesteatoma of middle ear 10.4
13 ear malformation 10.3
14 schistosoma mansoni infection, susceptibility/ 10.3
15 schistosomiasis 10.3
16 ataxia and polyneuropathy, adult-onset 10.3
17 autosomal dominant cerebellar ataxia 10.3
18 mastoiditis 10.3
19 thalassemia 10.2
20 treacher collins syndrome 1 10.2
21 otitis media 10.2
22 spinocerebellar ataxia 2 10.2
23 alzheimer disease 10.1
24 huntington disease 10.1
25 spinocerebellar ataxia 17 10.1
26 amyloidosis 10.1
27 parkinson disease, late-onset 10.1
28 parkinsonism 10.1
29 siderosis 10.1
30 superficial siderosis 10.1
31 branchial cleft anomalies 10.0
32 external auditory canal, bilateral atresia of, with congenital vertical talus 10.0
33 hemifacial microsomia 10.0
34 chromosome 18q deletion syndrome 10.0
35 branchiootic syndrome 1 10.0
36 cholesteatoma, congenital 10.0
37 human immunodeficiency virus type 1 10.0
38 alacrima, achalasia, and mental retardation syndrome 10.0
39 osteopetrosis 10.0
40 osteochondrodysplasia 10.0
41 dermatitis 10.0
42 alopecia 10.0
43 48,xyyy 10.0
44 craniofacial microsomia 10.0
45 internal carotid agenesis 10.0
46 lateral sclerosis 10.0
47 amyotrophic lateral sclerosis 1 9.9
48 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9
49 alpha-thalassemia 9.9
50 helix syndrome 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:

31
# Description HPO Frequency HPO Source Accession
1 conductive hearing impairment 31 HP:0000405
2 atresia of the external auditory canal 31 HP:0000413
3 hyposmia 31 HP:0004409

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Bone, Heart, Olfactory Bulb, Skin, Brain

Publications for Aural Atresia, Congenital

Articles related to Aural Atresia, Congenital:

(show top 50) (show all 272)
# Title Authors PMID Year
1
TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction. 61 6 57
24487590 2014
2
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. 61 6 57
22152683 2011
3
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. 57 61
12740760 2003
4
Grading system for the selection of patients with congenital aural atresia. 61 57
1598988 1992
5
Congenital aural atresia. 57 61
2770382 1989
6
Classification of congenital aural atresia and results of reconstructive surgery. 57 61
3389235 1988
7
Congenital atresia of the ear in man and animals. 57
13259384 1955
8
When to Say When-Reasons to Abort Surgery for Congenital Aural Atresia. 61
33534387 2021
9
Hearing-related quality of life, developmental outcomes and performance in children and young adults with unilateral conductive hearing loss due to aural atresia. 61
33385661 2021
10
Application of retrosigmoid sinus approach in Bonebridge implantation. 61
33140681 2021
11
[Hearing rehabilitation with the Vibrant Soundbridge in patients with congenital middle ear malformation]. 61
33599810 2021
12
Behavioural performance and self-report measures in children with unilateral hearing loss due to congenital aural atresia. 61
32736886 2021
13
Bone conduction hearing device adherence in relationship to age in pediatric unilateral congenital aural atresia. 61
33340984 2021
14
Active middle ear implant (vibrant soundbridge) in children with unilateral congenital aural atresia. 61
33043753 2021
15
Acoustic Reflexes in Aural Atresia Patients: Evidence of an Intact Efferent System? 61
33491463 2021
16
Long-term Outcomes of Clip Coupler Implantation in Patients with Unilateral Congenital Aural Atresia. 61
32500728 2020
17
Current Treatments for Congenital Aural Atresia. 61
33070563 2020
18
Is There a Coexistence of Peritemporal Wormian Bones and Congenital Aural Atresia? 61
32697526 2020
19
Replica on prevalence of congenital aural atresia in Argentina. 61
32171438 2020
20
Compliments to Dr. Zernotti et al. in describing rates of congenital aural atresia in ethnic groups - A complementary elaboration. 61
32143839 2020
21
High-resolution computed tomography evaluation of congenital aural atresia - how useful is this? 61
32686623 2020
22
Acquisition limitations of bone conduction hearing devices in children with unilateral microtia and atresia. 61
32361150 2020
23
Location of the stapedius muscle with reference to the facial nerve in patients with unilateral congenital aural atresia: implication for active middle ear implants surgery. 61
32068476 2020
24
[Surgical management of high-grade ear malformations in childhood]. 61
32130456 2020
25
Long-term Audiometric Outcomes After Atresiaplasty for Congenital Aural Atresia. 61
31821263 2020
26
Effects of FM system fitted into the normal hearing ear orcartilage conduction hearing aid fitted into the affected ear on speech-in-noise recognition in Japanese children with unilateral congenital aural atresia. 61
32378596 2020
27
Evaluation of appearance-related distress after canaloplasty using the DAS-24 questionnaire. 61
31671044 2020
28
Is there a role for computed tomography scanning in microtia with complete aural atresia to rule out cholesteatoma? 61
31374385 2019
29
International Consensus Recommendations on Microtia, Aural Atresia and Functional Ear Reconstruction. 61
31418720 2019
30
Functional and Aesthetic Reconstruction for Microtia Using the Combination of Superficial Circumflex Iliac Artery Perforator Superthin Flap Transfer and Skin Grafting. 61
31942344 2019
31
Relationship Between Middle Ear Volume and Long-term Audiological Outcomes in Congenital Aural Atresia Repair. 61
31135676 2019
32
Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal. 61
31225822 2019
33
[Congenital microtia with aural atresia or stenosis accompany with first branchial cleft anomaly: report of 5 cases]. 61
31137094 2019
34
Analysis of Inner Ear Anomalies in Unilateral Congenital Aural Atresia Combined With Microtia. 61
30403837 2019
35
Audiological outcomes in patients with congenital aural atresia implanted with transcutaneous active bone conduction hearing implant. 61
30665177 2019
36
Vibrant Soundbridge implantation via a retrofacial approach in a patient with congenital aural atresia. 61
30201227 2019
37
Medical and Audiological Indications for Implantable Auditory Devices. 61
30827358 2019
38
Congenital Aural Atresia prevalence in the Argentinian population. 61
29571523 2019
39
Aural Atresia with Cholesteotoma and Its Management Strategies. 61
30464921 2018
40
Impact of unilateral congenital aural atresia on academic Performance: A systematic review. 61
30262360 2018
41
Bonebridge transcutaneous bone conduction implant in children with congenital aural atresia: surgical and audiological outcomes. 61
30008276 2018
42
Long-term results of atresiaplasty in patients with congenital aural atresia. 61
29426271 2018
43
Jugular dominance is unrelated to isolated unilateral congenital aural atresia in children. 61
29859571 2018
44
Long-term Hearing Outcome of Canaloplasty With Partial Ossicular Replacement in Congenital Aural Atresia. 61
29664866 2018
45
Mandibular condylar hypoplasia in children with isolated unilateral congenital aural atresia. 61
28671284 2018
46
Semiautomated Middle Ear Volume Measurement as a Predictor of Postsurgical Outcomes for Congenital Aural Atresia. 61
29217746 2018
47
Atresiaplasty in Congenital Aural Atresia: What the Facial Plastic Surgeon Needs to Know. 61
29153191 2018
48
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases. 61
29358571 2018
49
Preoperative evaluation and intraoperative protection of the facial nerve in congenital aural atresia. 61
29236281 2017
50
Check-list for the assessment of functional impairment in children with congenital aural atresia. 61
29106869 2017

Variations for Aural Atresia, Congenital

ClinVar genetic disease variations for Aural Atresia, Congenital:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSHZ1 NM_005786.6(TSHZ1):c.946_947insA (p.Pro316fs) Insertion Pathogenic 31185 rs730882069 GRCh37: 18:72998443-72998444
GRCh38: 18:75286488-75286489
2 TSHZ1 NM_001308210.2(TSHZ1):c.137T>C (p.Met46Thr) SNV Pathogenic 1031573 GRCh37: 18:72997499-72997499
GRCh38: 18:75285544-75285544
3 TSHZ1 NM_005786.6(TSHZ1):c.723G>A (p.Trp241Ter) SNV Pathogenic 31186 rs730882070 GRCh37: 18:72998220-72998220
GRCh38: 18:75286265-75286265
4 TSHZ1 NM_001308210.2(TSHZ1):c.1892C>T (p.Pro631Leu) SNV Uncertain significance 1049280 GRCh37: 18:72999254-72999254
GRCh38: 18:75287299-75287299
5 TSHZ1 NM_005786.6(TSHZ1):c.-329_-328dup Duplication Uncertain significance 327779 rs66582660 GRCh37: 18:72922958-72922959
GRCh38: 18:75211003-75211004
6 TSHZ1 NM_005786.6(TSHZ1):c.*442_*445del Deletion Uncertain significance 327862 rs886054119 GRCh37: 18:73001036-73001039
GRCh38: 18:75289081-75289084
7 TSHZ1 NM_005786.6(TSHZ1):c.-444dup Duplication Uncertain significance 327765 rs767833741 GRCh37: 18:72922849-72922850
GRCh38: 18:75210894-75210895
8 TSHZ1 NM_005786.6(TSHZ1):c.-432dup Duplication Uncertain significance 327771 rs372787732 GRCh37: 18:72922851-72922852
GRCh38: 18:75210896-75210897
9 TSHZ1 NM_005786.6(TSHZ1):c.-443_-442del Deletion Uncertain significance 327768 rs376458726 GRCh37: 18:72922850-72922851
GRCh38: 18:75210895-75210896
10 TSHZ1 NM_005786.6(TSHZ1):c.1849_1851del (p.Glu617del) Deletion Uncertain significance 327831 rs756583304 GRCh37: 18:72999344-72999346
GRCh38: 18:75287389-75287391
11 TSHZ1 NM_005786.6(TSHZ1):c.-189G>A SNV Uncertain significance 327786 rs762506031 GRCh37: 18:72923105-72923105
GRCh38: 18:75211150-75211150
12 TSHZ1 NM_005786.6(TSHZ1):c.-443_-441del Deletion Uncertain significance 327769 rs886054104 GRCh37: 18:72922850-72922852
GRCh38: 18:75210895-75210897
13 TSHZ1 NM_005786.6(TSHZ1):c.-443_-442dup Duplication Uncertain significance 327766 rs376458726 GRCh37: 18:72922849-72922850
GRCh38: 18:75210894-75210895
14 TSHZ1 NM_005786.6(TSHZ1):c.-433_-432dup Duplication Uncertain significance 327772 rs372787732 GRCh37: 18:72922851-72922852
GRCh38: 18:75210896-75210897
15 TSHZ1 NM_005786.6(TSHZ1):c.*441_*442dup Duplication Uncertain significance 327861 rs777123658 GRCh37: 18:73001026-73001027
GRCh38: 18:75289071-75289072
16 TSHZ1 NM_005786.6(TSHZ1):c.-328dup Duplication Uncertain significance 327778 rs66582660 GRCh37: 18:72922958-72922959
GRCh38: 18:75211003-75211004
17 TSHZ1 NM_005786.6(TSHZ1):c.-445dup Duplication Uncertain significance 327764 rs886054103 GRCh37: 18:72922846-72922847
GRCh38: 18:75210891-75210892
18 TSHZ1 NM_005786.6(TSHZ1):c.-444_-443insGG Insertion Uncertain significance 327767 rs767833741 GRCh37: 18:72922849-72922850
GRCh38: 18:75210894-75210895
19 TSHZ1 NM_005786.6(TSHZ1):c.-188C>G SNV Uncertain significance 327787 rs763707409 GRCh37: 18:72923106-72923106
GRCh38: 18:75211151-75211151
20 TSHZ1 NM_005786.6(TSHZ1):c.-443del Deletion Uncertain significance 327770 rs886054105 GRCh37: 18:72922851-72922851
GRCh38: 18:75210896-75210896
21 TSHZ1 NM_001308210.2(TSHZ1):c.2127C>G (p.Asp709Glu) SNV Uncertain significance 930291 GRCh37: 18:72999489-72999489
GRCh38: 18:75287534-75287534
22 TSHZ1 NM_005786.6(TSHZ1):c.-200dup Duplication Likely benign 327785 rs369841992 GRCh37: 18:72923088-72923089
GRCh38: 18:75211133-75211134

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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