MCID: MCR103
MIFTS: 37

Microtia malady

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

Aliases & Classifications for Microtia

Aliases & Descriptions 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
ICD10 via Orphanet 34 Q17.2
ICD10 33 Q17.2

Summaries for Microtia

MalaCards based summary : Microtia is related to microtia-anotia and microtia, hearing impairment, and cleft palate. 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_Role of APC in cell cycle regulation. The drugs Menthol and Anesthetics 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 embryo

Wikipedia : 71 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 67)
id Related Disease Score Top Affiliating Genes
1 microtia-anotia 12.3
2 microtia, hearing impairment, and cleft palate 12.2
3 deafness, congenital with inner ear agenesis, microtia, and microdontia 12.2
4 hypertelorism, microtia, facial clefting syndrome 12.1
5 deafness with labyrinthine aplasia microtia and microdontia 12.0
6 microtia with nasolacrimal duct imperforation and eye coloboma 11.8
7 microphthalmia microtia fetal akinesia 11.8
8 cutaneous mastocytosis, conductive hearing loss and microtia 11.7
9 mastocytosis cutaneous with short stature conductive hearing loss and microtia 11.7
10 meier-gorlin syndrome 1 11.6
11 even-plus syndrome 11.3
12 gupta patton syndrome 11.1
13 hemifacial microsomia 11.1
14 isotretinoin embryopathy-like syndrome 10.9
15 meier-gorlin syndrome 4 10.9
16 meier-gorlin syndrome 5 10.9
17 mandibulofacial dysostosis, guion-almeida type 10.9
18 meier-gorlin syndrome 6 10.9
19 meier-gorlin syndrome 2 10.9
20 ablepharon-macrostomia syndrome 10.9
21 meier-gorlin syndrome 3 10.9
22 samson viljoen syndrome 10.7
23 diamond blackfan anemia 15 with mandibulofacial dysostosis 10.7
24 wisconsin syndrome 10.7
25 craniofacial microsomia 10.7
26 oculoauriculofrontonasal syndrome 10.7
27 treacher collins syndrome 1 10.7
28 dysostosis 9.9
29 mastoiditis 9.9
30 oculo-auriculo-vertebral spectrum 9.8
31 cholesteatoma 9.8
32 parkinson disease 10 9.8 GMNN ORC1
33 ichthyosis, congenital, autosomal recessive 6 9.8 HOXA2 TCOF1
34 microcephaly 9.8
35 mastocytosis 9.8
36 situs inversus 9.8
37 tonsillitis 9.6
38 cleft lip 9.6
39 rickets 9.6
40 bronchiectasis 9.6
41 microphthalmia 9.6
42 dextrocardia 9.6
43 trisomy 22 9.6
44 periostitis 9.6
45 androgen insensitivity 9.6
46 syndactyly 9.6
47 cornelia de lange syndrome 9.6
48 polymicrogyria 9.6
49 fryns syndrome 9.6
50 esophagitis 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 9.89 FGF3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.89 FGF3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.89 FGF3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.89 TCOF1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.89 TCOF1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.89 TCOF1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.89 FGF3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.89 TCOF1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.89 FGF3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.89 TCOF1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.89 FGF3 TCOF1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.89 TCOF1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.89 TCOF1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.89 FGF3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.89 FGF3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.89 FGF3
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 GMNN ORC1 TCOF1
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 GMNN ORC1 TCOF1

MGI Mouse Phenotypes related to Microtia:

44
id 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 mortality/aging MP:0010768 9.02 FGF3 GMNN HOXA2 ORC1 TCOF1

Drugs & Therapeutics for Microtia

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Anesthetics
3 Anesthetics, Local

Interventional clinical trials:


id Name Status NCT ID Phase
1 Silicone Gel to Improve Scar in Microtia Patients Recruiting NCT02518035 Phase 4
2 Perinatal Nurse Home Visiting Enhanced With mHealth Technology Unknown status NCT01688427 Phase 2
3 Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo Studies Completed NCT00958802 Early Phase 1
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

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 415)
id Title Authors Year
1
Management of chest deformity caused by microtia reconstruction: Comparison of autogenous diced cartilage versus cadaver cartilage graft partial filling techniques. ( 27777177 )
2017
2
Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia. ( 28109504 )
2017
3
An Alternative Posterosuperior Auricular Fascia Flap for Ear Elevation During Microtia Reconstruction. ( 28032165 )
2016
4
Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China. ( 26681129 )
2016
5
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. ( 27503514 )
2016
6
Teasing in younger and older children with microtia before and after ear reconstruction. ( 27609237 )
2016
7
Associated anomalies in cases with anotia and microtia. ( 27818252 )
2016
8
Characterization of pediatric microtia cartilage: a reservoir of chondrocytes for auricular reconstruction using tissue engineering strategies. ( 27566509 )
2016
9
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
10
Satisfactory surgical option for cartilage graft absorption in microtia reconstruction. ( 26857756 )
2016
11
Public Perception of the Burden of Microtia. ( 27438446 )
2016
12
Analysis of Rib Cartilages Anomalies in Patients With Microtia. ( 27192635 )
2016
13
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
14
Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. ( 27632762 )
2016
15
Fabrication of three-dimensional scan-to-print ear model for microtia reconstruction. ( 27884347 )
2016
16
Genetic Advances in the Understanding of Microtia. ( 27895971 )
2016
17
Paravertebral Nerve Block for Donor Site Pain in Stage I Microtia Reconstruction: A Pilot Study. ( 26908556 )
2016
18
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. ( 27088280 )
2016
19
The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia. ( 27093034 )
2016
20
Could 3D bioprinted tissues offer future hope for microtia treatment? ( 27353851 )
2016
21
Patient reported outcome measures in microtia surgery. ( 28041938 )
2016
22
Investigation of Microsurgical Technique Combined With Skin Flap Expansion for Ear Reconstruction in Treating Hunter Type III Congenital Microtia. ( 27759585 )
2016
23
A Temporoparietal Fascia Pocket Method in Elevation of Reconstructed Auricle for Microtia. ( 28002245 )
2016
24
Chondrocytes from congenital microtia possess an inferior capacity for in vivo cartilage regeneration to healthy ear chondrocytes. ( 27860439 )
2016
25
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. ( 26744099 )
2016
26
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
27
Sound lateralization ability of patients with bilateral microtia and atresia after bilateral reconstruction of auricles and external auditory canals and fitting of new canal-type hearing aids to replace a bone conduction hearing aid. ( 27834100 )
2016
28
Three-dimensional autologous cartilage framework fabrication assisted by new additive manufactured ear-shaped templates for microtia reconstruction. ( 27496290 )
2016
29
Genome-wide association scan suggests basis for microtia in Awassi sheep. ( 26990958 )
2016
30
Autologous Costochondral Microtia Reconstruction. ( 27097140 )
2016
31
22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound. ( 27343339 )
2016
32
Congenital Microtia Treated at Sapporo Medical University Hospital: Clinical Characteristics and Associated Anomalies. ( 27115402 )
2016
33
Modular Component Assembly Approach to Microtia Reconstruction. ( 26720326 )
2016
34
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
35
Chondrogenesis of human adipose derived stem cells for future microtia repair using co-culture technique. ( 27900891 )
2016
36
Microtia Reconstruction. ( 27712823 )
2016
37
Congenital microtia in a neonate due to maternal isotretinoin exposure 1 month before pregnancy: Case Report. ( 25773513 )
2015
38
Periosteal Flap Technique for Elevation of the Pinna in Microtia. ( 26181759 )
2015
39
Rib Cartilage Assessment Relative to the Healthy Ear in Young Children with Microtia Guiding Operative Timing. ( 26265615 )
2015
40
The Rib Cartilage Concept in Microtia. ( 26667633 )
2015
41
Aesthetic auricular reconstruction with autologous rib cartilage grafts in adult microtia patients. ( 26026221 )
2015
42
Unlilateral microtia, dextrocardia and situs inversus totalis: a possible new association. ( 25455296 )
2015
43
Three-dimensional chest computed tomography analysis of thoracic deformities in patients with microtia. ( 25665490 )
2015
44
Management of hearing loss and the normal ear in cases of unilateral Microtia with aural atresia. ( 26256547 )
2015
45
A simple ear splint for microtia patients. ( 26096122 )
2015
46
Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome. ( 26035869 )
2015
47
A New Flap Technique for Reconstruction of Microtia and Congenital Aural Atresia. ( 27011544 )
2015
48
Microtia Combined With Split Sole of Feet, Deformed Middle Fingers and Care-au-lait Spots on the Trunk: A New Association. ( 26517464 )
2015
49
Estimation of eighth costal cartilage in surgical timing of microtia reconstruction. ( 25569388 )
2015
50
Two stage ear/microtia reconstruction using costal cartilage. ( 26981464 )
2015

Variations for Microtia

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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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