MCID: MCR103
MIFTS: 37

Microtia malady

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

Aliases & Classifications for Microtia

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Sources:
23GeneTests, 52Orphanet, 25GTR, 48Novoseek, 29ICD10 via Orphanet, 38MESH via Orphanet, 28ICD10
See all MalaCards sources

Aliases & Descriptions for Microtia:

Name: Microtia 23 52 25 48

Characteristics:

Orphanet epidemiological data:

52
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet52 ORPHA83463
ICD10 via Orphanet29 Q17.2
MESH via Orphanet38 C537772
ICD1028 Q17.2

Summaries for Microtia

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Wikipedia:69 Microtia is a congenital deformity where the pinna (external ear) is underdeveloped. A completely... more...

MalaCards based summary: Microtia is related to meier-gorlin syndrome 1 and deafness, congenital with inner ear agenesis, microtia, and microdontia. An important gene associated with Microtia is HOXA2 (Homeobox A2), and among its related pathways are Cell cycle and Cell Cycle Control of Chromosomal Replication. Affiliated tissues include skin, bone and testes.

Related Diseases for Microtia

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Diseases related to Microtia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 130.5GMNN, ORC1, ORC6
2deafness, congenital with inner ear agenesis, microtia, and microdontia12.2
3microtia, hearing impairment, and cleft palate12.2
4microtia-anotia12.2
5hypertelorism, microtia, facial clefting syndrome12.1
6deafness with labyrinthine aplasia microtia and microdontia12.1
7microtia, meatal atresia and conductive deafness12.0
8microtia with nasolacrimal duct imperforation and eye coloboma11.9
9microphthalmia microtia fetal akinesia11.9
10cutaneous mastocytosis, conductive hearing loss and microtia11.8
11mastocytosis cutaneous with short stature conductive hearing loss and microtia11.8
12isotretinoin embryopathy-like syndrome11.1
13gupta patton syndrome11.1
14diamond blackfan anemia 15 with mandibulofacial dysostosis10.8
15wisconsin syndrome10.8
16samson viljoen syndrome10.8
17hemifacial microsomia10.5
18mastoiditis10.0
19dysostosis10.0
20meier-gorlin syndrome 210.0
21ablepharon-macrostomia syndrome10.0
22meier-gorlin syndrome 310.0
23meier-gorlin syndrome 410.0
24meier-gorlin syndrome 510.0
25mandibulofacial dysostosis, guion-almeida type10.0
26meier-gorlin syndrome 610.0
27cholesteatoma10.0
28oculo-auriculo-vertebral spectrum10.0
29microcephaly9.9
30situs inversus9.9
31mastocytosis9.9
32treacher collins syndrome 19.8
33oculoauriculofrontonasal syndrome9.8
34craniofacial microsomia9.8
35obesity9.7
36androgen insensitivity9.7
37fryns syndrome9.7
38alopecia9.7
39diamond-blackfan anemia9.7
40walker-warburg syndrome9.7
41acrofacial dysostosis9.7
42tonsillitis9.7
43rickets9.7
44microphthalmia9.7
45syndactyly9.7
46cornelia de lange syndrome9.7
47esophagitis9.7
48keratosis9.7
49pharyngitis9.7
50cervicitis9.7

Graphical network of the top 20 diseases related to Microtia:



Diseases related to microtia

Symptoms for Microtia

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Drugs & Therapeutics for Microtia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Silicone Gel to Improve Scar in Microtia PatientsRecruitingNCT02518035Phase 4
2Perinatal Nurse Home Visiting Enhanced With mHealth TechnologyRecruitingNCT01688427Phase 2
3Tissue Engineering Microtia Auricular Reconstruction: in Vitro and in Vivo StudiesCompletedNCT00958802Phase 0
4Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
5Gold Laser Vs. Micro-Debriders for Functional Endoscopic Sinus SurgeryNot yet recruitingNCT02900794

Search NIH Clinical Center for Microtia

Genetic Tests for Microtia

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Genetic tests related to Microtia:

id Genetic test Affiliating Genes
1 Microtia25 23

Anatomical Context for Microtia

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MalaCards organs/tissues related to Microtia:

34
Skin, Bone, Testes, Heart, Tonsil, Salivary gland, Kidney

Animal Models for Microtia or affiliated genes

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Publications for Microtia

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Articles related to Microtia:

(show top 50)    (show all 402)
idTitleAuthorsYear
1
Public Perception of the Burden of Microtia. (27438446)
2016
2
Analysis of Rib Cartilages Anomalies in Patients With Microtia. (27192635)
2016
3
Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. (27632762)
2016
4
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
5
Aesthetic auricular reconstruction with autologous rib cartilage grafts in adult microtia patients. (26026221)
2015
6
Cartilage engineering using chondrocyte cell sheets and its application in reconstruction of microtia. (25755694)
2015
7
Precision of three-dimensional stereo-photogrammetry (3dMDa8c) in anthropometry of the auricle and its application in microtia reconstruction. (25892285)
2015
8
Response to "Congenital microtia in a neonate suspected of isotretinoin exposure one month before pregnancy: A case report". (26310204)
2015
9
Phenotypic characterization and risk factors for microtia in East China, a case-control study. (25281337)
2014
10
Comparison of microtia reconstruction outcomes using rib cartilage vs porous polyethylene implant. (24763669)
2014
11
Salvage of a costochondral graft for microtia after postoperative infection. (23429219)
2014
12
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
13
The LA1beck flowchart for functional and aesthetic rehabilitation of aural atresia and microtia. (22918112)
2012
14
Mutational analysis of PACT gene in Chinese patients with microtia. (21595004)
2011
15
Microtia-anotia: a global review of prevalence rates. (21656661)
2011
16
An update on auricular reconstruction: three major auricular malformations of microtia, prominent ear and cryptotia. (20856117)
2010
17
Secondary revisions due to unfavourable results after microtia reconstruction. (19451041)
2010
18
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
19
Generating ears from cultured autologous auricular chondrocytes by using two-stage implantation in treatment of microtia. (19730300)
2009
20
Atresia repair before microtia reconstruction: comparison of early with standard surgical timing. (19704362)
2009
21
Soft-tissue reconstruction for atypical microtia malformations and trauma. (18711064)
2008
22
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
23
A new syndrome of microtia with mixed type hearing loss, renal agenesis, and multiple skeletal anomalies. (16502432)
2006
24
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
25
Microtia chondrocytes as a donor source for tissue-engineered cartilage. (15564842)
2004
26
Ipsilateral microtia in monozygotic twins: an unusual concordant phenotype. (15083051)
2004
27
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
28
Microtia reconstruction: an update. (14515077)
2003
29
Aural atresia, microtia, complex heart defect, and hearing loss syndrome: additional case. (12548746)
2003
30
Auricular reconstruction for microtia: Part II. Surgical techniques. (12087261)
2002
31
Do not forget the fundamental merits of microtia repair using a tissue expander. (11818882)
2002
32
Microtia repair with rib cartilage grafts: a review of personal experience with 1000 cases. (12120682)
2002
33
Bone-conducted sound lateralization of interaural time difference and interaural intensity difference in children and a young adult with bilateral microtia and atresia of the ears. (11349795)
2001
34
Clinical and radiological evaluation in children with microtia. (10890145)
1999
35
Resonance imaging of the eustachian tube cartilage in microtia. (9482220)
1998
36
Combined aesthetic and functional treatment of microtia. (9204175)
1997
37
Residual problems in chest donor sites after microtia reconstruction: a long-term study. (7732143)
1995
38
A case of lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia. (7551163)
1995
39
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. (7666397)
1995
40
Microtia repair. (9046614)
1995
41
Modification of the stages in total reconstruction of the auricle: Part III. Grafting the three-dimensional costal cartilage framework for small concha-type microtia. (8310016)
1994
42
Modification of the stages in total reconstruction of the auricle: Part I. Grafting the three-dimensional costal cartilage framework for lobule-type microtia. (8310014)
1994
43
Modification of the stages in total reconstruction of the auricle: Part II. Grafting the three-dimensional costal cartilage framework for concha-type microtia. (8310015)
1994
44
Unilateral microtia reconstruction: is the position symmetrical? (8415966)
1993
45
Microtia as an autosomal dominant mutation in a transgenic mouse line: a possible animal model of branchial arch anomalies. (2031565)
1991
46
Microtia and associated anomalies: statistical analysis. (2624271)
1989
47
Syndrome of microtia and aortic arch anomalies resembling isotretinoin embryopathy. (3478461)
1987
48
Craniofacial changes in unilateral microtia: I. An anthropometric study. (6736223)
1984
49
Classification and multidisciplinary management of microtia. (7335362)
1981
50
Prosthetic management of microtia. (5726671)
1968

Variations for Microtia

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Expression for genes affiliated with Microtia

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Search GEO for disease gene expression data for Microtia.

Pathways for genes affiliated with Microtia

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GO Terms for genes affiliated with Microtia

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Cellular components related to Microtia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:000080810.0ORC1, ORC6
2nuclear origin of replication recognition complexGO:000566410.0ORC1, ORC6
3nucleoplasmGO:00056548.1GMNN, HOXA2, ORC1, ORC6

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

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:00062609.3ORC1, ORC6
2G1/S transition of mitotic cell cycleGO:00000829.2ORC1, ORC6

Sources for Microtia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet