MCID: MCR103
MIFTS: 40

Microtia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microtia

MalaCards integrated aliases for Microtia:

Name: Microtia 58 29 54 6 32

Characteristics:

Orphanet epidemiological data:

58
microtia
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q17.2
MESH via Orphanet 45 C537772
ICD10 via Orphanet 33 Q17.2
UMLS via Orphanet 71 C0152423
Orphanet 58 ORPHA83463

Summaries for Microtia

MalaCards based summary : Microtia is related to deafness, congenital, with inner ear agenesis, microtia, and microdontia and treacher collins syndrome 1. An important gene associated with Microtia is HOXA2 (Homeobox A2). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related phenotypes are microtia and delayed speech and language development

Wikipedia : 73 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 173)
# Related Disease Score Top Affiliating Genes
1 deafness, congenital, with inner ear agenesis, microtia, and microdontia 32.6 LOC109115964 FGF3
2 treacher collins syndrome 1 30.9 TCOF1 EFTUD2
3 hemifacial microsomia 30.8 TCOF1 HOXA2 EFTUD2
4 dysostosis 29.9 TCOF1 EFTUD2
5 choanal atresia, posterior 29.6 TCOF1 EFTUD2
6 acrofacial dysostosis 1, nager type 29.6 TCOF1 EFTUD2
7 esophageal atresia 29.5 TCOF1 EFTUD2
8 postaxial acrofacial dysostosis 29.4 TCOF1 EFTUD2
9 charge syndrome 29.4 TCOF1 EFTUD2
10 coloboma of macula 29.3 TCOF1 EFTUD2
11 cleft palate, isolated 29.2 TCOF1 HOXA2 FGF3 EFTUD2
12 acrofacial dysostosis 29.2 TCOF1 EFTUD2
13 microtia, hearing impairment, and cleft palate 11.7
14 microtia with meatal atresia and conductive deafness 11.6
15 hypertelorism, microtia, facial clefting syndrome 11.5
16 meier-gorlin syndrome 1 11.5
17 microtia-anotia 11.5
18 microtia with nasolacrimal duct imperforation and eye coloboma 11.4
19 even-plus syndrome 11.3
20 microphthalmia microtia fetal akinesia 11.2
21 isotretinoin embryopathy-like syndrome 11.2
22 mandibulofacial dysostosis, guion-almeida type 11.1
23 craniofacial microsomia 11.1
24 johnson neuroectodermal syndrome 11.0
25 ablepharon-macrostomia syndrome 11.0
26 oculoauriculofrontonasal syndrome 11.0
27 meier-gorlin syndrome 2 11.0
28 meier-gorlin syndrome 3 11.0
29 meier-gorlin syndrome 4 11.0
30 meier-gorlin syndrome 5 11.0
31 meier-gorlin syndrome 6 11.0
32 meier-gorlin syndrome 7 11.0
33 meier-gorlin syndrome 8 11.0
34 treacher collins syndrome 4 11.0
35 mastocytosis cutaneous with short stature conductive hearing loss and microtia 10.9
36 cutaneous mastocytosis, conductive hearing loss and microtia 10.9
37 diamond-blackfan anemia 15 with mandibulofacial dysostosis 10.9
38 samson viljoen syndrome 10.9
39 wisconsin syndrome 10.9
40 diamond-blackfan anemia 14 with mandibulofacial dysostosis 10.9
41 mullegama-klein-martinez syndrome 10.8
42 townes-brocks syndrome 10.8
43 fetal thalidomide syndrome 10.8
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
45 aural atresia, congenital 10.4
46 branchiootic syndrome 1 10.3
47 ear malformation 10.3
48 helix syndrome 10.2
49 cholesteatoma of middle ear 10.2
50 cleft lip 10.2

Graphical network of the top 20 diseases related to Microtia:



Diseases related to Microtia

Symptoms & Phenotypes for Microtia

Human phenotypes related to Microtia:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microtia 58 31 obligate (100%) Obligate (100%) HP:0008551
2 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
3 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
4 anotia 58 31 frequent (33%) Frequent (79-30%) HP:0009892
5 hypoplastic helices 58 31 frequent (33%) Frequent (79-30%) HP:0008589
6 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
7 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
8 abnormality of the pinna 58 Frequent (79-30%)

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

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.47 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.47 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.47 FGF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.47 TCOF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.47 TCOF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.47 TCOF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.47 TCOF1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.47 FGF3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.47 FGF3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.47 TCOF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.47 TCOF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.47 FGF3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.47 FGF3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.47 FGF3

MGI Mouse Phenotypes related to Microtia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 EFTUD2 FGF3 HOXA2 TCOF1
2 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 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4 Epinephryl borate Phase 4
5 Analgesics Phase 4
6
Levoleucovorin Approved, Investigational Early Phase 1 68538-85-2 149436
7
Sulfamethoxazole Approved Early Phase 1 723-46-6 5329
8
Trimethoprim Approved, Vet_approved Early Phase 1 738-70-5 5578
9
Folic acid Approved, Nutraceutical, Vet_approved Early Phase 1 59-30-3 6037
10
Bisphenol A Experimental 80-05-7 6623
11 Pharmaceutical Solutions
12 insulin
13 Hormone Antagonists
14 Hormones
15 Estrogens
16 Antioxidants
17 Protective Agents
18 Insulin, Globin Zinc
19 Vitamin B9 Early Phase 1
20 Antibiotics, Antitubercular Early Phase 1
21 Folic Acid Antagonists Early Phase 1
22 Cytochrome P-450 Enzyme Inhibitors Early Phase 1
23 Anti-Bacterial Agents Early Phase 1
24 Vitamin B Complex Early Phase 1
25 Antiparasitic Agents Early Phase 1
26 Trimethoprim, Sulfamethoxazole Drug Combination Early Phase 1
27 Antiprotozoal Agents Early Phase 1
28 Anti-Infective Agents Early Phase 1
29 Folate Early Phase 1
30 Antimalarials Early Phase 1

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Use of Silicone Gel to Improve Retroauricular Scar in Microtia Patients Unknown status NCT02518035 Phase 4 Silicone Gel
2 Study of Analgesic Efficacy of Different Kinds of Nerve Blocks on Otoplastic Surgery Recruiting NCT04192708 Phase 4
3 A Multicenter, Single Arm, Prospective, Open-Label, Staged Study of the Safety and Efficacy of the AuriNovo Construct for Auricular Reconstruction in Subjects With Unilateral Microtia Not yet recruiting NCT04399239 Phase 1, Phase 2
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
5 Use of Platelet-enriched Plasma to Improve the Percentage of Integration of the Cutaneous Graft During Second Stage of Auricular Reconstruction in Children Aged 8-12 Years; A Controlled Clinical Trial Unknown status NCT03215979
6 Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo Studies Completed NCT00958802 Early Phase 1
7 Evaluation of the Benefits of Bilateral Fitting in Bone-anchored Hearing System Users Completed NCT04006132
8 Assessing Listening Effort at Different Signal-to-noise Ratios in Bone-anchored Users Recruiting NCT04242940
9 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Recruiting NCT04351893
10 Evaluation of the Auryzon Family of Cartilage Processing Devices in the Optimization of Cartilaginous Reconstructions Recruiting NCT03624608
11 Randomized Trial Examining Oral Consumption of Bisphenol A on Type 2 Diabetes Risk Markers Recruiting NCT03771066
12 Demonstration of the Prebiotic-like Effects of Camu-camu Consumption Against Obesity-related Disorders in Humans Recruiting NCT04130321
13 Erector Spinae Plane Block for Rib Cartilage Graft Reconstruction Surgery Not yet recruiting NCT03729427
14 Effect of Antibiotics on Urinary Microbiome: Randomized Trial Not yet recruiting NCT04230746 Early Phase 1 Bactrim DS 800Mg-160Mg Tablet;Placebo oral tablet

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:

40
Eye, Bone, Skin, Lung, Tongue, Salivary Gland, Tonsil

Publications for Microtia

Articles related to Microtia:

(show top 50) (show all 1368)
# Title Authors PMID Year
1
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. 61 54
15770127 2005
2
Microtia and cholesteatoma: Implications for the reconstructive surgeon. 61
33718565 2021
3
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. 61
33639314 2021
4
[Obstructive sleep apnea in microtia children with maxillofacial dysostosis]. 61
33794641 2021
5
Whole-exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities. 61
33811463 2021
6
Ear Abnormalities. 61
33795464 2021
7
Stack-Up Technique to Create a Three-Dimensional Costal Cartilage Framework in Ear Reconstruction. 61
33705020 2021
8
Epidemiological Analysis and the Nomogram for Possible Risk Factors for Severe Microtia. 61
33705069 2021
9
Bioinformatics analysis of candidate genes involved in ethanol-induced microtia pathogenesis based on a human genome database: GeneCards. 61
33418206 2021
10
Birth prevalence of congenital anomalies in Argentina, according to socioeconomic level. 61
33786756 2021
11
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. 61
33338304 2021
12
Case of oculo-auriculo-vertebral spectrum: rare clinical features. 61
33658211 2021
13
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss. 61
33552643 2021
14
Instant Auditory Benefit of an Adhesive BCHD on Children with Bilateral Congenital Microtia. 61
33768714 2021
15
Adoption of Telemedicine for Multidisciplinary Care in Pediatric Otolaryngology. 61
33629600 2021
16
Socioeconomic and clinical factors influencing treatment selection in microtia and aural atresia. 61
33338703 2021
17
Congenital heart defects in patients with isolated microtia: evaluation using colour Doppler echocardiographic image. 61
33198842 2021
18
Bone conduction hearing device adherence in relationship to age in pediatric unilateral congenital aural atresia. 61
33340984 2021
19
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome. 61
33640901 2021
20
Assessment of cost and Health-Related quality of life following three different methods of microtia reconstruction in 30 patients. 61
33533194 2021
21
Postoperative Safety and Satisfaction in Patients With Microtia. 61
33010219 2021
22
Reply to "Ultrasonographic evaluation of costal cartilage for microtia reconstruction surgery". 61
33358468 2021
23
Fabrication of chondrocytes/chondrocyte-microtissues laden fibrin gel auricular scaffold for microtia reconstruction. 61
32875937 2021
24
An international study to develop the EAR-Q patient-reported outcome measure for children and young adults with ear conditions. 61
33637465 2021
25
PLLA Porous Microsphere-Reinforced Silk-Based Scaffolds for Auricular Cartilage Regeneration. 61
33553955 2021
26
The Interchondral Joints of Thorax in Microtia Surgery: Classification and Fabrication Strategies. 61
33538499 2021
27
A novel two-stage strategy combing tissue expansion and Nagata`s technique for total auricular reconstruction. 61
33551357 2021
28
Temporoparietal fascia flap for auricular reconstruction. 61
33507646 2021
29
3D Technique-Based Nonsurgical Correction of Deformational Congenital Auricular Deformities. 61
33440397 2021
30
Improving In Vitro Cartilage Generation by Co-Culturing Adipose-Derived Stem Cells and Chondrocytes on an Allograft Adipose Matrix Framework. 61
33002984 2021
31
3D Printing of a BAHA Protective Cap. 61
33459563 2021
32
The Social Perception of Microtia and Auricular Reconstruction. 61
32275329 2021
33
Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia. 61
32783465 2021
34
Sound-localisation performance in patients with congenital unilateral microtia and atresia fitted with an active middle ear implant. 61
32449028 2021
35
Repair of damage to the skin flap during total auricular reconstruction with tissue expansion. 61
33120106 2020
36
Comparisons of performance in pediatric bone conduction implant recipients using remote microphone technology. 61
33070059 2020
37
Long-term Outcomes of Clip Coupler Implantation in Patients with Unilateral Congenital Aural Atresia. 61
32500728 2020
38
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein. 61
33037049 2020
39
Image-guided surgical navigation for bone-conduction hearing device implant placement. 61
33068944 2020
40
Auricular reconstruction with modified expanded two-flap method in Goldenhar Syndrome: 7-Year experiences. 61
33022554 2020
41
Cognitive, Motor, and Language Development of Preschool Children With Craniofacial Microsomia. 61
33322943 2020
42
Three-dimensional scanning technique in the congenital microtia reconstruction with tissue expander. 61
33278091 2020
43
Posterior auricular artery free flap reconstruction of the retroauricular sulcus in microtia repair. 61
33518502 2020
44
Engaging stakeholders in bioprinting research: Views and concerns of microtia patients' parents on bioprinted auricular cartilage. 61
32527668 2020
45
Comparison of Two Surgical Epilation Procedures Based on the Nagata Method in All Degrees of Low Hairline Microtia. 61
33259731 2020
46
Influential factors when considering reconstruction and post-operative outcomes: A survey of microtia patients and parents. 61
33422496 2020
47
Modification of the cartilaginous framework for autologous ear reconstruction: Construction of a stable complete ring framework with grander highs and lows. 61
33451946 2020
48
Commentary on "Comparison of Two Surgical Epilation Procedures Based on the Nagata Method in All Degrees of Low Hairline Microtia" by Wang et al. 61
33259741 2020
49
Identification of a novel CYP26A1 mutation in a Chinese family with congenital microtia. 61
33197841 2020
50
Treatment of Ectopic Earlobe in Microtia Reconstruction Using Delayed Postauricular Skin Flap. 61
33295223 2020

Variations for Microtia

ClinVar genetic disease variations for Microtia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLXNA3 NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) SNV Uncertain significance 417914 rs149367480 GRCh37: X:153688737-153688737
GRCh38: X:154460397-154460397

Expression for Microtia

Search GEO for disease gene expression data for Microtia.

Pathways for Microtia

GO Terms for Microtia

Sources for Microtia

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....