MCID: MCR103
MIFTS: 39

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 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 Cell Cycle Checkpoints and Mitotic G1-G1/S phases. 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 85)
# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 32.2 MCM5 ORC4 ORC6
2 treacher collins syndrome 1 31.9 HOXA2 TCOF1
3 deafness, congenital, with inner ear agenesis, microtia, and microdontia 12.6
4 microtia-anotia 12.5
5 microtia with meatal atresia and conductive deafness 12.5
6 microtia, hearing impairment, and cleft palate 12.5
7 hypertelorism, microtia, facial clefting syndrome 12.5
8 microtia with nasolacrimal duct imperforation and eye coloboma 12.3
9 deafness with labyrinthine aplasia microtia and microdontia 12.3
10 microphthalmia microtia fetal akinesia 12.2
11 cutaneous mastocytosis, conductive hearing loss and microtia 12.0
12 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.0
13 even-plus syndrome 11.7
14 isotretinoin embryopathy-like syndrome 11.6
15 gupta patton syndrome 11.5
16 hemifacial microsomia 11.3
17 samson viljoen syndrome 11.3
18 johnson neuroectodermal syndrome 11.3
19 mandibulofacial dysostosis, guion-almeida type 11.2
20 ablepharon-macrostomia syndrome 11.1
21 oculoauriculofrontonasal syndrome 11.1
22 meier-gorlin syndrome 2 11.1
23 meier-gorlin syndrome 3 11.1
24 meier-gorlin syndrome 4 11.1
25 meier-gorlin syndrome 5 11.1
26 meier-gorlin syndrome 6 11.1
27 meier-gorlin syndrome 7 11.1
28 meier-gorlin syndrome 8 11.1
29 diamond-blackfan anemia 15 with mandibulofacial dysostosis 11.0
30 wisconsin syndrome 11.0
31 craniofacial microsomia 10.9
32 fetal thalidomide syndrome 10.9
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
34 aural atresia, congenital 10.3
35 hypertelorism 10.2
36 dysostosis 10.1
37 cleft palate, isolated 10.0
38 renal hypodysplasia/aplasia 1 10.0
39 lung agenesis 10.0
40 microcephaly 10.0
41 mastocytosis 10.0
42 situs inversus 10.0
43 ear malformation 9.8
44 hemifacial microsomia with radial defects 9.8
45 diaphragmatic hernia, congenital 9.8
46 kabuki syndrome 1 9.8
47 keratosis, seborrheic 9.8
48 supravalvular aortic stenosis 9.8
49 torticollis 9.8
50 tracheoesophageal fistula with or without esophageal atresia 9.8

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 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 FGF3 HOXA2 TCOF1

Drugs & Therapeutics for Microtia

Search Clinical Trials , 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, Lung, Eye

Publications for Microtia

Articles related to Microtia:

(show top 50) (show all 503)
# Title Authors Year
1
Autologous cartilage microtia reconstruction: Complications and risk factors. ( 30554677 )
2019
2
A New Microtia Reconstruction Method Using Delayed Postauricular Skin Flap. ( 29608527 )
2018
3
Parental preferences for the first consultation for microtia. ( 29447879 )
2018
4
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
5
Auricular Prostheses in Microtia. ( 29153193 )
2018
6
Smartphones for frugal three-dimensional scanning of the external ear with application to microtia<sup>a88</sup>. ( 29937369 )
2018
7
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
8
Reconstruction of Tragus and External Auditory Meatus using Remnant Auricle during Microtia Reconstruction. ( 29433146 )
2018
9
Reconstruction of Microtia Using a Single Expanded Postauricular Flap without Skin Grafting: Experience of 683 Cases. ( 29952898 )
2018
10
Surgical-Based Classification for Microtia. ( 29927826 )
2018
11
A Bone Conduction Implantable Device as a Functional Treatment Option in Unilateral Microtia with Bilateral Stapes Ankylosis: A Report of Two Cases. ( 29358571 )
2018
12
Auricular Retentive Prosthetic Conformer Post Brent's Stage III Surgery in Microtia Repair: A Clinical Report. ( 29508486 )
2018
13
A new technique for transcutaneous fixation of the costal cartilage block utilized in reconstructed ear elevation for microtia. ( 29545031 )
2018
14
Pursuing Mirror Image Reconstruction in Unilateral Microtia: Customizing Auricular Framework by Application of Three-Dimensional Imaging and Three-Dimensional Printing. ( 29608529 )
2018
15
Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia. ( 29664868 )
2018
16
Hearing improvement with softband and implanted bone-anchored hearing devices and modified implantation surgery in patients with bilateral microtia-atresia. ( 29287851 )
2018
17
Using Four-Layer Sculpted Rib Cartilage Framework to Increase Transverse Height of the Reconstructive Ear in One Operative Stage for Microtia Patients. ( 29214334 )
2018
18
New Strategies for Remnant Ear Treatment in Lobule-Type Microtia Reconstruction. ( 29870510 )
2018
19
Predictors for Unfavorable Projection of the Constructed Auricle following Ear Elevation Surgery in Microtia Reconstruction. ( 29595733 )
2018
20
Pediatric Microtia Reconstruction with Autologous Rib: Personal Experience and Technique with 1000 Pediatric Patients with Microtia. ( 29153189 )
2018
21
Tragus formation during concha-type microtia repair using a chondrocutaneous island flap. ( 29609440 )
2018
22
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
23
Autologous Rib Microtia Construction: Nagata Technique. ( 29153188 )
2018
24
Patient Perception and Satisfaction Questionnaire for Microtia Reconstruction: A New Clinical Tool to Improve Patient Outcome. ( 29303853 )
2018
25
Microtia Reconstruction in Hemifacial Microsomia Patients: Three Framework Coverage Techniques. ( 30489529 )
2018
26
Cartilage exposure following autologous microtia reconstruction: An algorithmic treatment approach✰. ( 30528282 )
2018
27
Anatomy of the superficial temporal artery in patients with unilateral microtia. ( 30528867 )
2018
28
CRC16: Prosthetic Rehabilitation of a Microtia Patient: A Challenging Wax Sculpture Technique. ( 30532468 )
2018
29
Abnormal soft palate movements in patients with microtia. ( 30001915 )
2018
30
Assessment of MRI safety issues for stainless steel sutures used for microtia reconstruction. ( 30007538 )
2018
31
Seasonal Variations in Microtia of Chinese Population. ( 30095570 )
2018
32
Auricular reconstruction of congenital microtia by using the modified Nagata method: Personal 10-Year experience with 1350 cases. ( 30097399 )
2018
33
Genome-wide association study reveals the locus responsible for microtia in Valle del Belice sheep breed. ( 30160299 )
2018
34
Renal ultrasound abnormalities in children with syndromic and non-syndromic microtia. ( 30173979 )
2018
35
Simultaneous auricular reconstruction combined with bone bridge implantation-optimal surgical techniques in bilateral microtia with severe hearing impairment. ( 30174016 )
2018
36
Maternal risk factors for severe microtia/atresia in China: A case-control study. ( 30368374 )
2018
37
Microtia and Related Facial Anomalies. ( 30396412 )
2018
38
Analysis of Inner Ear Anomalies in Unilateral Congenital Aural Atresia Combined With Microtia. ( 30403837 )
2018
39
Simultaneous Bilateral Microtia Reconstruction Using Single-Expanded Postauricular Flap Without Skin Grafting. ( 30412057 )
2018
40
Epidemiologic Assessment of Microtia in Over 23 Million Consecutive United States Births. ( 30418290 )
2018
41
Preliminary Analysis on Characteristics of Rib Cartilage Calcification in Patients With Congenital Microtia. ( 30444766 )
2018
42
Soft Palate Dysfunction in Children With Microtia. ( 30444789 )
2018
43
Ultrasonographic assessment of costochondral cartilage for microtia reconstruction. ( 30450547 )
2018
44
Use of innovative negative pressure therapy for cartilage exposure in microtia reconstruction. ( 30470674 )
2018
45
Microtia patients: Auricular chondrocyte ECM is promoted by CGF through IGF-1 activation of the IGF-1R/PI3K/AKT pathway. ( 30471105 )
2018
46
Microtia in a Chinese Specialty Clinic Population: Clinical Heterogeneity and Associated Congenital Anomalies. ( 30489530 )
2018
47
Patient Satisfaction and Its Influencing Factors of Microtia Reconstruction Using Autologous Cartilage. ( 28643009 )
2017
48
Differential expression of long noncoding RNAs in congenital microtia. ( 28625897 )
2017
49
Evaluation of 4 Outcomes Measures in Microtia Treatment: Exposures, Infections, Aesthetics, and Psychosocial Ramifications. ( 29062641 )
2017
50
Aesthetic and hearing rehabilitation in patients with bilateral microtia-atresia. ( 28964287 )
2017

Variations for Microtia

ClinVar genetic disease variations for Microtia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLXNA3 NM_017514.4(PLXNA3): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs149367480 GRCh37 Chromosome X, 153688737: 153688737
2 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 9.26 ORC6 TCOF1
2 nuclear chromosome, telomeric region GO:0000784 9.16 MCM5 ORC4
3 nuclear origin of replication recognition complex GO:0005664 8.96 ORC4 ORC6
4 origin recognition complex GO:0000808 8.62 ORC4 ORC6

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.33 MCM5 ORC4 ORC6
2 G1/S transition of mitotic cell cycle GO:0000082 9.13 MCM5 ORC4 ORC6
3 DNA replication initiation GO:0006270 8.8 MCM5 ORC4 ORC6

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.26 HOXA2 MCM5 ORC4 ORC6
2 DNA replication origin binding GO:0003688 8.8 MCM5 ORC4 ORC6

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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