MCID: MCR103
MIFTS: 39

Microtia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia

MalaCards integrated aliases for Microtia:

Name: Microtia 55 28 51

Characteristics:

Orphanet epidemiological data:

55
microtia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 55 ORPHA83463
MESH via Orphanet 42 C537772
UMLS via Orphanet 70 C0152423
ICD10 via Orphanet 33 Q17.2
ICD10 32 Q17.2

Summaries for Microtia

MalaCards based summary : Microtia is related to meier-gorlin syndrome 1 and treacher collins syndrome 1. An important gene associated with Microtia is HOXA2 (Homeobox A2), and among its related pathways/superpathways are E2F mediated regulation of DNA replication and Cell cycle. 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 : 72 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 105)
# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 31.5 MCM5 ORC4
2 treacher collins syndrome 1 31.4 HOXA2 TCOF1
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 hypertelorism, microtia, facial clefting syndrome 12.3
7 microtia, hearing impairment, and cleft palate 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 samson viljoen syndrome 11.2
17 hemifacial microsomia 11.2
18 johnson neuroectodermal syndrome 11.1
19 mandibulofacial dysostosis, guion-almeida type 11.0
20 ablepharon-macrostomia syndrome 10.9
21 meier-gorlin syndrome 2 10.9
22 meier-gorlin syndrome 3 10.9
23 meier-gorlin syndrome 4 10.9
24 meier-gorlin syndrome 5 10.9
25 meier-gorlin syndrome 6 10.9
26 meier-gorlin syndrome 7 10.9
27 meier-gorlin syndrome 8 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 branchiootic syndrome 1 10.1
35 hypertelorism 10.0
36 mastoiditis 9.9
37 dysostosis 9.9
38 cholesteatoma 9.9
39 episodic pain syndrome, familial, 1 9.9
40 aging 9.9
41 renal hypodysplasia/aplasia 1 9.8
42 situs inversus 9.8
43 blood group, i system 9.8
44 cleft palate, isolated 9.8
45 ear malformation 9.8
46 microcephaly 9.8
47 lung agenesis 9.8
48 torticollis 9.6
49 body mass index quantitative trait locus 12 9.6
50 diamond-blackfan anemia 9.6

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:

25 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.55 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.55 FGF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.55 TCOF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.55 TCOF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.55 TCOF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.55 FGF3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.55 TCOF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.55 FGF3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.55 TCOF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.55 FGF3 TCOF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 TCOF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.55 TCOF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.55 FGF3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.55 FGF3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.55 FGF3

MGI Mouse Phenotypes related to Microtia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 FGF3 HOXA2 TCOF1

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 2216-51-5 16666
2 Anesthetics
3 Dermatologic Agents
4 Anesthetics, Local
5 Pharmaceutical Solutions
6 Antipruritics

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
5 Gold Laser Vs. Micro-Debriders for Functional Endoscopic Sinus Surgery Recruiting NCT02900794
6 Perinatal Nurse Home Visiting Enhanced With mHealth Technology Active, not recruiting NCT01688427
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 28

Anatomical Context for Microtia

MalaCards organs/tissues related to Microtia:

38
Bone, Skin, Testes, Heart, Tonsil, Salivary Gland, Kidney

Publications for Microtia

Articles related to Microtia:

(show top 50) (show all 454)
# Title Authors Year
1
Parental preferences for the first consultation for microtia. ( 29447879 )
2018
2
Autologous Rib Microtia Construction: Nagata Technique. ( 29153188 )
2018
3
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
4
Pediatric Microtia Reconstruction with Autologous Rib: Personal Experience and Technique with 1000 Pediatric Patients with Microtia. ( 29153189 )
2018
5
Using Four-Layer Sculpted Rib Cartilage Framework to Increase Transverse Height of the Reconstructive Ear in One Operative Stage for Microtia Patients. ( 29214334 )
2018
6
Hearing improvement with softband and implanted bone-anchored hearing devices and modified implantation surgery in patients with bilateral microtia-atresia. ( 29287851 )
2018
7
Patient Perception and Satisfaction Questionnaire for Microtia Reconstruction: A New Clinical Tool to Improve Patient Outcome. ( 29303853 )
2018
8
Reconstruction of Tragus and External Auditory Meatus using Remnant Auricle during Microtia Reconstruction. ( 29433146 )
2018
9
Auricular Prostheses in Microtia. ( 29153193 )
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
Caudal Regression Syndrome with Bilateral Microtia. ( 28969749 )
2017
12
Effect of availability of video laryngoscopy on the use of fiberoptic intubation in school-aged children with microtia. ( 28940719 )
2017
13
Management of chest deformity caused by microtia reconstruction: Comparison of autogenous diced cartilage versus cadaver cartilage graft partial filling techniques. ( 27777177 )
2017
14
Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing. ( 28538573 )
2017
15
Costal Cartilage Assessment in Surgical Timing of Microtia Reconstruction. ( 28692518 )
2017
16
Long-Term Comparison between Human Normal Conchal and Microtia Chondrocytes Regenerated by Tissue Engineering on Nanofiber Polyglycolic Acid Scaffolds. ( 28350666 )
2017
17
Differential expression of long noncoding RNAs in congenital microtia. ( 28625897 )
2017
18
Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. ( 29062641 )
2017
19
Rehabilitation of Unilateral Congenital Microtia by Implant-retained Prosthesis. ( 29264301 )
2017
20
Aesthetic and hearing rehabilitation in patients with bilateral microtia-atresia. ( 28964287 )
2017
21
Firm Elevation of Reconstructed Auricle Using Polydactyly Digit in Microtia. ( 29135725 )
2017
22
Ectopic Preauricular Sinus in a Facial Cleft and Microtia Patient. ( 29349057 )
2017
23
Cost analysis of microtia treatment in the Netherlands. ( 28734754 )
2017
24
Active transcutaneous bone conduction implant: audiological results in paediatric patients with bilateral microtia associated with external auditory canal atresia. ( 28857620 )
2017
25
A New Microtia Reconstruction Method Using Delayed Postauricular Skin Flap. ( 28350674 )
2017
26
A New Classification of Helix Fabrication Methods with Autogenous Costal Cartilage in Microtia Reconstruction. ( 28198774 )
2017
27
Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. ( 28968992 )
2017
28
Uncovering the pathogenesis of microtia using bioinformatics approach. ( 28688561 )
2017
29
Sternal Development and Variations and Anomalies in Patients With Microtia: Evaluation Using 3-Dimensional Computed Tomography. ( 28296686 )
2017
30
Otologic and Audiology Concerns of Microtia Repair. ( 28798546 )
2017
31
Evaluation of tracheobronchial branching abnormalities in patients with microtia using chest computed tomography. ( 29106873 )
2017
32
Correlation among external auditory canal anomaly, temporal bone malformation, and hearing levels in patients with microtia. ( 28636731 )
2017
33
Implantation and positioning of a transcutaneous magnetic bone conduction hearing system for children with microtia in preparation for auricular reconstruction. ( 28326677 )
2017
34
Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve. ( 28473682 )
2017
35
Combining Virtual Surgical Planning, Intraoperative Navigation, and 3-Dimensional Printing in Prosthetic-Based Bilateral Microtia Reconstruction. ( 28137637 )
2017
36
Microtia and Social Media: Patient Versus Physician Perspective of Quality of Information. ( 28468140 )
2017
37
Patient Satisfaction and Its Influencing Factors of Microtia Reconstruction Using Autologous Cartilage. ( 28643009 )
2017
38
Microtia in All the Siblings of a Family: A Rare Case. ( 28764250 )
2017
39
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia. ( 28109504 )
2017
40
Early Familial Experiences With Microtia: Psychosocial Implications for Pediatric Providers. ( 28959893 )
2017
41
Analysis of Rib Cartilages Anomalies in Patients With Microtia. ( 27192635 )
2016
42
Patient reported outcome measures in microtia surgery. ( 28041938 )
2016
43
Satisfactory surgical option for cartilage graft absorption in microtia reconstruction. ( 26857756 )
2016
44
Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. ( 27632762 )
2016
45
Modular Component Assembly Approach to Microtia Reconstruction. ( 26720326 )
2016
46
Teasing in younger and older children with microtia before and after ear reconstruction. ( 27609237 )
2016
47
Genetic Advances in the Understanding of Microtia. ( 27895971 )
2016
48
Chondrogenesis of human adipose derived stem cells for future microtia repair using co-culture technique. ( 27900891 )
2016
49
Three-dimensional autologous cartilage framework fabrication assisted by new additive manufactured ear-shaped templates for microtia reconstruction. ( 27496290 )
2016
50
Accurate Measurements of the Skin Surface Area of the Healthy Auricle and Skin Deficiency in Microtia Patients. ( 28293505 )
2016

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

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 nuclear chromosome, telomeric region GO:0000784 8.62 MCM5 ORC4

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 MCM5 ORC4
2 G1/S transition of mitotic cell cycle GO:0000082 8.96 MCM5 ORC4
3 DNA replication initiation GO:0006270 8.62 MCM5 ORC4

Molecular functions related to Microtia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication origin binding GO:0003688 8.62 MCM5 ORC4

Sources for Microtia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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