MCID: MCR103
MIFTS: 40

Microtia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia

MalaCards integrated aliases for Microtia:

Name: Microtia 59 29 55 6

Characteristics:

Orphanet epidemiological data:

59
microtia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA83463
UMLS via Orphanet 74 C0152423
MESH via Orphanet 45 C537772
ICD10 via Orphanet 34 Q17.2
ICD10 33 Q17.2

Summaries for Microtia

MalaCards based summary : Microtia is related to treacher collins syndrome 1 and meier-gorlin syndrome 1. An important gene associated with Microtia is HOXA2 (Homeobox A2), and among its related pathways/superpathways are DNA Damage and E2F mediated regulation of DNA replication. The drugs Menthol and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Microtia is a congenital deformity where the pinna (external ear) is underdeveloped. A completely... more...

Related Diseases for Microtia

Diseases related to Microtia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 treacher collins syndrome 1 31.3 HOXA2 TCOF1
2 meier-gorlin syndrome 1 30.5 CDT1 GMNN ORC6
3 deafness, congenital, with inner ear agenesis, microtia, and microdontia 12.4
4 microtia-anotia 12.4
5 microtia with meatal atresia and conductive deafness 12.4
6 microtia, hearing impairment, and cleft palate 12.3
7 hypertelorism, microtia, facial clefting syndrome 12.3
8 microtia with nasolacrimal duct imperforation and eye coloboma 12.1
9 deafness with labyrinthine aplasia microtia and microdontia 12.1
10 microphthalmia microtia fetal akinesia 12.1
11 mastocytosis cutaneous with short stature conductive hearing loss and microtia 11.8
12 cutaneous mastocytosis, conductive hearing loss and microtia 11.8
13 even-plus syndrome 11.6
14 isotretinoin embryopathy-like syndrome 11.4
15 gupta patton syndrome 11.4
16 johnson neuroectodermal syndrome 11.3
17 hemifacial microsomia 11.2
18 samson viljoen syndrome 11.2
19 mandibulofacial dysostosis, guion-almeida type 11.0
20 meier-gorlin syndrome 7 10.9
21 meier-gorlin syndrome 8 10.9
22 ablepharon-macrostomia syndrome 10.9
23 meier-gorlin syndrome 2 10.9
24 meier-gorlin syndrome 3 10.9
25 meier-gorlin syndrome 4 10.9
26 meier-gorlin syndrome 5 10.9
27 meier-gorlin syndrome 6 10.9
28 diamond-blackfan anemia 15 with mandibulofacial dysostosis 10.8
29 wisconsin syndrome 10.8
30 oculoauriculofrontonasal syndrome 10.8
31 fetal thalidomide syndrome 10.8
32 craniofacial microsomia 10.8
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
34 hypertelorism 10.0
35 dysostosis 10.0
36 mastoiditis 10.0
37 aging 9.9
38 renal hypodysplasia/aplasia 1 9.8
39 situs inversus 9.8
40 cleft palate, isolated 9.8
41 ear malformation 9.8
42 type i 9.8
43 lung agenesis 9.8
44 microcephaly 9.8
45 esophagitis 9.8
46 supravalvular aortic stenosis 9.7
47 auriculo-condylar syndrome 9.7
48 isotretinoin syndrome 9.7
49 torticollis 9.7
50 ankylosis 9.7

Graphical network of the top 20 diseases related to Microtia:



Diseases related to Microtia

Symptoms & Phenotypes for Microtia

GenomeRNAi Phenotypes related to Microtia according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.58 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.58 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 TCOF1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.58 FGF3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.58 TCOF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.58 TCOF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.58 TCOF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.58 FGF3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 TCOF1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 FGF3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.58 TCOF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.58 FGF3 TCOF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 TCOF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.58 TCOF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.58 FGF3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.58 FGF3
17 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.58 FGF3

MGI Mouse Phenotypes related to Microtia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 FGF3 GMNN HOXA2 TCOF1
2 hearing/vestibular/ear MP:0005377 9.13 FGF3 HOXA2 TCOF1
3 normal MP:0002873 8.92 CDT1 FGF3 GMNN HOXA2

Drugs & Therapeutics for Microtia

Drugs for Microtia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666
2 Anesthetics Not Applicable
3 Dermatologic Agents Not Applicable
4 Anesthetics, Local Not Applicable
5 Pharmaceutical Solutions Not Applicable
6 Antipruritics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Silicone Gel to Improve Scar in Microtia Patients Recruiting NCT02518035 Phase 4 Silicone Gel
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo Studies Completed NCT00958802 Early Phase 1
4 Use of Platelet-enriched Plasma During Auricular Reconstruction Recruiting NCT03215979 Not Applicable
5 Gold Laser Vs. Micro-Debriders for Functional Endoscopic Sinus Surgery Recruiting NCT02900794 Not Applicable
6 Perinatal Nurse Home Visiting Enhanced With mHealth Technology Active, not recruiting NCT01688427 Not Applicable
7 Gut Microbiome and Serum Metabolome Alterations in ADHD Patients Not yet recruiting NCT03447223

Search NIH Clinical Center for Microtia

Genetic Tests for Microtia

Genetic tests related to Microtia:

# Genetic test Affiliating Genes
1 Microtia 29

Anatomical Context for Microtia

MalaCards organs/tissues related to Microtia:

41
Bone, Skin, Testes, Heart, Kidney, Salivary Gland, Tonsil

Publications for Microtia

Articles related to Microtia:

(show top 50) (show all 470)
# Title Authors Year
1
A New Microtia Reconstruction Method Using Delayed Postauricular Skin Flap. ( 29608527 )
2018
2
Parental preferences for the first consultation for microtia. ( 29447879 )
2018
3
Comparing audiological outcomes between the Bonebridge and bone conduction hearing aid on a hard test band: Our experience in children with atresia and microtia. ( 29501302 )
2018
4
Auricular Prostheses in Microtia. ( 29153193 )
2018
5
Smartphones for frugal three-dimensional scanning of the external ear with application to microtia<sup>a88</sup>. ( 29937369 )
2018
6
Commentary on 'Using Four-Layers Sculpted Rib Cartilage Framework to Increase Transverse Height of the Reconstructive Ear in One Operative Stage for Microtia Patients'. ( 29270690 )
2018
7
Reconstruction of Tragus and External Auditory Meatus using Remnant Auricle during Microtia Reconstruction. ( 29433146 )
2018
8
Reconstruction of Microtia Using a Single Expanded Postauricular Flap without Skin Grafting: Experience of 683 Cases. ( 29952898 )
2018
9
Surgical-Based Classification for Microtia. ( 29927826 )
2018
10
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases. ( 29358571 )
2018
11
Auricular Retentive Prosthetic Conformer Post Brent's Stage III Surgery in Microtia Repair: A Clinical Report. ( 29508486 )
2018
12
A new technique for transcutaneous fixation of the costal cartilage block utilized in reconstructed ear elevation for microtia. ( 29545031 )
2018
13
Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing. ( 29608529 )
2018
14
Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia. ( 29664868 )
2018
15
Hearing improvement with softband and implanted bone-anchored hearing devices and modified implantation surgery in patients with bilateral microtia-atresia. ( 29287851 )
2018
16
Using Four-Layer Sculpted Rib Cartilage Framework to Increase Transverse Height of the Reconstructive Ear in One Operative Stage for Microtia Patients. ( 29214334 )
2018
17
New Strategies for Remnant Ear Treatment in Lobule-Type Microtia Reconstruction. ( 29870510 )
2018
18
Predictors for Unfavorable Projection of the Constructed Auricle following Ear Elevation Surgery in Microtia Reconstruction. ( 29595733 )
2018
19
Pediatric Microtia Reconstruction with Autologous Rib: Personal Experience and Technique with 1000 Pediatric Patients with Microtia. ( 29153189 )
2018
20
Tragus formation during concha-type microtia repair using a chondrocutaneous island flap. ( 29609440 )
2018
21
Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature. ( 29720579 )
2018
22
Autologous Rib Microtia Construction: Nagata Technique. ( 29153188 )
2018
23
Patient Perception and Satisfaction Questionnaire for Microtia Reconstruction: A New Clinical Tool to Improve Patient Outcome. ( 29303853 )
2018
24
Patient Satisfaction and Its Influencing Factors of Microtia Reconstruction Using Autologous Cartilage. ( 28643009 )
2017
25
Differential expression of long noncoding RNAs in congenital microtia. ( 28625897 )
2017
26
Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. ( 29062641 )
2017
27
Aesthetic and hearing rehabilitation in patients with bilateral microtia-atresia. ( 28964287 )
2017
28
Cost analysis of microtia treatment in the Netherlands. ( 28734754 )
2017
29
Management of chest deformity caused by microtia reconstruction: Comparison of autogenous diced cartilage versus cadaver cartilage graft partial filling techniques. ( 27777177 )
2017
30
Ectopic Preauricular Sinus in a Facial Cleft and Microtia Patient. ( 29349057 )
2017
31
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia. ( 28109504 )
2017
32
Early Familial Experiences With Microtia: Psychosocial Implications for Pediatric Providers. ( 28959893 )
2017
33
Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve. ( 28473682 )
2017
34
Costal Cartilage Assessment in Surgical Timing of Microtia Reconstruction. ( 28692518 )
2017
35
Sternal Development and Variations and Anomalies in Patients With Microtia: Evaluation Using 3-Dimensional Computed Tomography. ( 28296686 )
2017
36
Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing. ( 28538573 )
2017
37
Uncovering the pathogenesis of microtia using bioinformatics approach. ( 28688561 )
2017
38
Active transcutaneous bone conduction implant: audiological results in paediatric patients with bilateral microtia associated with external auditory canal atresia. ( 28857620 )
2017
39
Implantation and positioning of a transcutaneous magnetic bone conduction hearing system for children with microtia in preparation for auricular reconstruction. ( 28326677 )
2017
40
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. ( 28968992 )
2017
41
A New Classification of Helix Fabrication Methods with Autogenous Costal Cartilage in Microtia Reconstruction. ( 28198774 )
2017
42
Descriptive Analysis of the Arterial Supply to the Auricle in Patients with Unilateral Microtia. ( 29632773 )
2017
43
Combining Virtual Surgical Planning, Intraoperative Navigation, and 3-Dimensional Printing in Prosthetic-Based Bilateral Microtia Reconstruction. ( 28137637 )
2017
44
Effect of availability of video laryngoscopy on the use of fiberoptic intubation in school-aged children with microtia. ( 28940719 )
2017
45
Otologic and Audiology Concerns of Microtia Repair. ( 28798546 )
2017
46
Correlation among external auditory canal anomaly, temporal bone malformation, and hearing levels in patients with microtia. ( 28636731 )
2017
47
Evaluation of tracheobronchial branching abnormalities in patients with microtia using chest computed tomography. ( 29106873 )
2017
48
Caudal Regression Syndrome with Bilateral Microtia. ( 28969749 )
2017
49
Long-Term Comparison between Human Normal Conchal and Microtia Chondrocytes Regenerated by Tissue Engineering on Nanofiber Polyglycolic Acid Scaffolds. ( 28350666 )
2017
50
Firm Elevation of Reconstructed Auricle Using Polydactyly Digit in Microtia. ( 29135725 )
2017

Variations for Microtia

ClinVar genetic disease variations for Microtia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;X;t(X;17)(q22;p13.3)dn Translocation Pathogenic
2 46;XX;inv(5)(q14q35)dn inversion Pathogenic
3 Translocation Likely pathogenic
4 46;XY;t(12;14)(q15;q13)mat Translocation Uncertain significance
5 46;XX;inv(4)(q34.2q35.2).ish inversion Uncertain significance
6 PLXNA3 NM_017514.4(PLXNA3): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs149367480 GRCh37 Chromosome X, 153688737: 153688737
7 PLXNA3 NM_017514.4(PLXNA3): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs149367480 GRCh38 Chromosome X, 154460397: 154460397

Expression for Microtia

Search GEO for disease gene expression data for Microtia.

Pathways for Microtia

GO Terms for Microtia

Cellular components related to Microtia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 8.62 ORC6 TCOF1

Biological processes related to Microtia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.26 CDT1 ORC6
2 G1/S transition of mitotic cell cycle GO:0000082 9.16 CDT1 ORC6
3 positive regulation of chromatin binding GO:0035563 8.96 CDT1 GMNN
4 DNA replication preinitiation complex assembly GO:0071163 8.62 CDT1 GMNN

Sources for Microtia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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