MCID: MCR103
MIFTS: 39

Microtia

Categories: Ear diseases, Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia

MalaCards integrated aliases for Microtia:

Name: Microtia 24 56 29 52

Characteristics:

Orphanet epidemiological data:

56
microtia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 56 ORPHA83463
MESH via Orphanet 43 C537772
UMLS via Orphanet 70 C0152423
ICD10 via Orphanet 34 Q17.2
ICD10 33 Q17.2

Summaries for Microtia

MalaCards based summary : Microtia is related to meier-gorlin syndrome 1 and microtia-anotia. 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 Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and hearing/vestibular/ear

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 70)
id Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 31.4 ORC4 ORC6
2 microtia-anotia 12.3
3 microtia, hearing impairment, and cleft palate 12.2
4 deafness, congenital with inner ear agenesis, microtia, and microdontia 12.2
5 hypertelorism, microtia, facial clefting syndrome 12.1
6 microtia with nasolacrimal duct imperforation and eye coloboma 12.0
7 deafness with labyrinthine aplasia microtia and microdontia 12.0
8 microphthalmia microtia fetal akinesia 11.8
9 cutaneous mastocytosis, conductive hearing loss and microtia 11.7
10 mastocytosis cutaneous with short stature conductive hearing loss and microtia 11.7
11 even-plus syndrome 11.4
12 gupta patton syndrome 11.1
13 hemifacial microsomia 11.0
14 isotretinoin embryopathy-like syndrome 10.9
15 meier-gorlin syndrome 2 10.8
16 ablepharon-macrostomia syndrome 10.8
17 meier-gorlin syndrome 6 10.8
18 meier-gorlin syndrome 3 10.8
19 meier-gorlin syndrome 4 10.8
20 meier-gorlin syndrome 5 10.8
21 mandibulofacial dysostosis, guion-almeida type 10.8
22 meier-gorlin syndrome 7 10.8
23 diamond blackfan anemia 15 with mandibulofacial dysostosis 10.7
24 samson viljoen syndrome 10.7
25 wisconsin syndrome 10.7
26 treacher collins syndrome 1 10.7
27 johnson neuroectodermal syndrome 10.7
28 oculoauriculofrontonasal syndrome 10.7
29 craniofacial microsomia 10.7
30 fetal thalidomide syndrome 10.7
31 mastoiditis 9.9
32 dysostosis 9.9
33 mental retardation, autosomal recessive 46 9.9 HOXA2 TCOF1
34 cholesteatoma 9.9
35 oculo-auriculo-vertebral spectrum 9.9
36 microcephaly 9.8
37 situs inversus 9.8
38 obesity 9.6
39 androgen insensitivity 9.6
40 fryns syndrome 9.6
41 alopecia 9.6
42 diamond-blackfan anemia 9.6
43 walker-warburg syndrome 9.6
44 acrofacial dysostosis 9.6
45 tonsillitis 9.6
46 rickets 9.6
47 microphthalmia 9.6
48 cornelia de lange syndrome 9.6
49 esophagitis 9.6
50 coloboma 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:

26
id 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 TCOF1 FGF3
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:

44
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Pharmaceutical Solutions
3 Anesthetics
4 Anesthetics, Local
5 Antipruritics
6 Dermatologic Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Silicone Gel to Improve Scar in Microtia Patients Recruiting NCT02518035 Phase 4 Silicone Gel
2 Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo Studies Completed NCT00958802 Early Phase 1
3 Use of Platelet-enriched Plasma During Auricular Reconstruction Recruiting NCT03215979
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
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

Search NIH Clinical Center for Microtia

Genetic Tests for Microtia

Genetic tests related to Microtia:

id Genetic test Affiliating Genes
1 Microtia 29 24

Anatomical Context for Microtia

MalaCards organs/tissues related to Microtia:

39
Skin, Bone, Testes, Heart, Tonsil, Salivary Gland, Kidney

Publications for Microtia

Articles related to Microtia:

(show top 50) (show all 435)
id Title Authors Year
1
Long-Term Comparison between Human Normal Conchal and Microtia Chondrocytes Regenerated by Tissue Engineering on Nanofiber Polyglycolic Acid Scaffolds. ( 28350666 )
2017
2
Microtia and Social Media: Patient Versus Physician Perspective of Quality of Information. ( 28468140 )
2017
3
Effect of availability of video laryngoscopy on the use of fiberoptic intubation in school-aged children with microtia. ( 28940719 )
2017
4
Differential expression of long noncoding RNAs in congenital microtia. ( 28625897 )
2017
5
Sternal Development and Variations and Anomalies in Patients With Microtia: Evaluation Using 3-Dimensional Computed Tomography. ( 28296686 )
2017
6
Microtia in All the Siblings of a Family: A Rare Case. ( 28764250 )
2017
7
Active transcutaneous bone conduction implant: audiological results in paediatric patients with bilateral microtia associated with external auditory canal atresia. ( 28857620 )
2017
8
Otologic and Audiology Concerns of Microtia Repair. ( 28798546 )
2017
9
Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing. ( 28538573 )
2017
10
Uncovering the pathogenesis of microtia using bioinformatics approach. ( 28688561 )
2017
11
A New Microtia Reconstruction Method Using Delayed Postauricular Skin Flap. ( 28350674 )
2017
12
Combining Virtual Surgical Planning, Intraoperative Navigation, and 3-Dimensional Printing in Prosthetic-Based Bilateral Microtia Reconstruction. ( 28137637 )
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
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia. ( 28109504 )
2017
15
Patient Satisfaction and Its Influencing Factors of Microtia Reconstruction Using Autologous Cartilage. ( 28643009 )
2017
16
Costal Cartilage Assessment in Surgical Timing of Microtia Reconstruction. ( 28692518 )
2017
17
Implantation and positioning of a transcutaneous magnetic bone conduction hearing system for children with microtia in preparation for auricular reconstruction. ( 28326677 )
2017
18
Cost analysis of microtia treatment in the Netherlands. ( 28734754 )
2017
19
Bilateral microtia, canal atresia and aplasia of cochleovestibular nerve. ( 28473682 )
2017
20
A New Classification of Helix Fabrication Methods with Autogenous Costal Cartilage in Microtia Reconstruction. ( 28198774 )
2017
21
Correlation among external auditory canal anomaly, temporal bone malformation, and hearing levels in patients with microtia. ( 28636731 )
2017
22
Autologous Costochondral Microtia Reconstruction. ( 27097140 )
2016
23
Fabrication of three-dimensional scan-to-print ear model for microtia reconstruction. ( 27884347 )
2016
24
Genome-wide association scan suggests basis for microtia in Awassi sheep. ( 26990958 )
2016
25
Associated anomalies in cases with anotia and microtia. ( 27818252 )
2016
26
Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China. ( 26681129 )
2016
27
An Alternative Posterosuperior Auricular Fascia Flap for Ear Elevation During Microtia Reconstruction. ( 28032165 )
2016
28
Could 3D bioprinted tissues offer future hope for microtia treatment? ( 27353851 )
2016
29
Sound lateralization test in patients with unilateral microtia and atresia after reconstruction of the auricle and external canal and fitting of canal-type hearing aids. ( 27049537 )
2016
30
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. ( 27088280 )
2016
31
Three-dimensional autologous cartilage framework fabrication assisted by new additive manufactured ear-shaped templates for microtia reconstruction. ( 27496290 )
2016
32
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
33
Investigation of Microsurgical Technique Combined With Skin Flap Expansion for Ear Reconstruction in Treating Hunter Type III Congenital Microtia. ( 27759585 )
2016
34
Paravertebral Nerve Block for Donor Site Pain in Stage I Microtia Reconstruction: A Pilot Study. ( 26908556 )
2016
35
Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. ( 27632762 )
2016
36
Clinical Efficacy of a Modified Nagata Method That Retains the Fascia Pedicle of the Mastoid Skin Flap in Auricular Reconstruction of Chinese Microtia Patients. ( 26910682 )
2016
37
Postoperative pain control by preventive intercostal nerve block under direct vision followed by catheter-based infusion of local analgesics in rib cartilage harvest for auricular reconstruction in children with microtia: A randomized controlled trial. ( 27430605 )
2016
38
Satisfactory surgical option for cartilage graft absorption in microtia reconstruction. ( 26857756 )
2016
39
Chondrogenesis of human adipose derived stem cells for future microtia repair using co-culture technique. ( 27900891 )
2016
40
A Temporoparietal Fascia Pocket Method in Elevation of Reconstructed Auricle for Microtia. ( 28002245 )
2016
41
Genetic Advances in the Understanding of Microtia. ( 27895971 )
2016
42
Continuous wound infiltration with 0.2% ropivacaine versus a single intercostal nerve block with 0.75% ropivacaine for postoperative pain management after reconstructive surgery for microtia. ( 27350268 )
2016
43
Microtia Reconstruction. ( 27712823 )
2016
44
Analysis of Rib Cartilages Anomalies in Patients With Microtia. ( 27192635 )
2016
45
Accurate Measurements of the Skin Surface Area of the Healthy Auricle and Skin Deficiency in Microtia Patients. ( 28293505 )
2016
46
Chondrocytes from congenital microtia possess an inferior capacity for in vivo cartilage regeneration to healthy ear chondrocytes. ( 27860439 )
2016
47
Teasing in younger and older children with microtia before and after ear reconstruction. ( 27609237 )
2016
48
Characterization of pediatric microtia cartilage: a reservoir of chondrocytes for auricular reconstruction using tissue engineering strategies. ( 27566509 )
2016
49
Patient reported outcome measures in microtia surgery. ( 28041938 )
2016
50
Public Perception of the Burden of Microtia. ( 27438446 )
2016

Variations for Microtia

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:

id Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 9.16 ORC6 TCOF1
2 nuclear origin of replication recognition complex GO:0005664 8.96 ORC4 ORC6
3 origin recognition complex GO:0000808 8.62 ORC4 ORC6

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

id Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 ORC4 ORC6
2 G1/S transition of mitotic cell cycle GO:0000082 8.96 ORC4 ORC6
3 DNA replication initiation GO:0006270 8.62 ORC4 ORC6

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

id Name GO ID Score Top Affiliating Genes
1 DNA replication origin binding GO:0003688 8.62 ORC4 ORC6

Sources for Microtia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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