MCID: MCR103
MIFTS: 37

Microtia malady

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

Aliases & Classifications for Microtia

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Sources:
24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 40MESH via Orphanet, 50Novoseek, 54Orphanet
See all MalaCards sources

Aliases & Descriptions for Microtia:

Name: Microtia 24 54 27 50

Characteristics:

Orphanet epidemiological data:

54
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet54 ORPHA83463
MESH via Orphanet40 C537772
ICD10 via Orphanet31 Q17.2
ICD1030 Q17.2

Summaries for Microtia

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Wikipedia:71 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 microtia-anotia. An important gene associated with Microtia is HOXA2 (Homeobox A2), and among its related pathways are E2F mediated regulation of DNA replication and Cell cycle_Role of APC in cell cycle regulation. Affiliated tissues include skin, bone and testes, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Synthetic lethal with MLN4924 (a NAE inhibitor).

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 61)
idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 131.6GMNN, ORC1
2microtia-anotia12.3
3microtia, hearing impairment, and cleft palate12.2
4deafness, congenital with inner ear agenesis, microtia, and microdontia12.2
5hypertelorism, microtia, facial clefting syndrome12.1
6deafness with labyrinthine aplasia microtia and microdontia12.0
7microtia with nasolacrimal duct imperforation and eye coloboma11.8
8microphthalmia microtia fetal akinesia11.8
9cutaneous mastocytosis, conductive hearing loss and microtia11.7
10mastocytosis cutaneous with short stature conductive hearing loss and microtia11.7
11even-plus syndrome11.3
12gupta patton syndrome11.1
13hemifacial microsomia11.1
14isotretinoin embryopathy-like syndrome10.9
15meier-gorlin syndrome 210.9
16ablepharon-macrostomia syndrome10.9
17meier-gorlin syndrome 310.9
18meier-gorlin syndrome 410.9
19meier-gorlin syndrome 510.9
20mandibulofacial dysostosis, guion-almeida type10.9
21meier-gorlin syndrome 610.9
22treacher collins syndrome 110.7
23diamond blackfan anemia 15 with mandibulofacial dysostosis10.7
24oculoauriculofrontonasal syndrome10.7
25samson viljoen syndrome10.7
26wisconsin syndrome10.7
27mastoiditis9.9
28dysostosis9.9
29cholesteatoma9.9
30oculo-auriculo-vertebral spectrum9.9
31microcephaly9.8
32mastocytosis9.8
33obesity9.6
34androgen insensitivity9.6
35fryns syndrome9.6
36alopecia9.6
37diamond-blackfan anemia9.6
38acrofacial dysostosis9.6
39tonsillitis9.6
40rickets9.6
41microphthalmia9.6
42esophagitis9.6
43keratosis9.6
44pharyngitis9.6
45cervicitis9.6
46cerebritis9.6
47cutaneous mastocytosis9.6
48congenital diaphragmatic hernia9.6
49cleft lip9.6
50bronchiectasis9.6

Graphical network of the top 20 diseases related to Microtia:



Diseases related to microtia

Symptoms & Phenotypes for Microtia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-3510.1FGF3, TCOF1
2GR00250-A-16.5GMNN, ORC1, TCOF1, GMNN, ORC1, TCOF1

MGI Mouse Phenotypes related to Microtia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.8FGF3, HOXA2, TCOF1
2MP:00053809.2FGF3, GMNN, HOXA2, TCOF1
3MP:00107688.3FGF3, GMNN, HOXA2, ORC1, TCOF1

Drugs & Therapeutics for Microtia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved23532216-51-516666
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
2Dermatologic Agents5674
3Antipruritics864
4Anesthetics, Local3272
5Anesthetics9001

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 StudiesCompletedNCT00958802Early Phase 1
4Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
5Gold Laser Vs. Micro-Debriders for Functional Endoscopic Sinus SurgeryRecruitingNCT02900794

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 Microtia27 24

Anatomical Context for Microtia

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MalaCards organs/tissues related to Microtia:

36
Skin, Bone, Testes, Heart, Tonsil, Salivary gland, Kidney

Publications for Microtia

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Articles related to Microtia:

(show top 50)    (show all 414)
idTitleAuthorsYear
1
Management of chest deformity caused by microtia reconstruction: Comparison of autogenous diced cartilage versus cadaver cartilage graft partial filling techniques. (27777177)
2017
2
Public Perception of the Burden of Microtia. (27438446)
2016
3
Chondrogenesis of human adipose derived stem cells for future microtia repair using co-culture technique. (27900891)
2016
4
Analysis of Rib Cartilages Anomalies in Patients With Microtia. (27192635)
2016
5
Prevalence of Renal and Cervical Vertebral Anomalies in Patients With Isolated Microtia and/or Aural Atresia. (27632762)
2016
6
Patient reported outcome measures in microtia surgery. (28041938)
2016
7
Investigation of Microsurgical Technique Combined With Skin Flap Expansion for Ear Reconstruction in Treating Hunter Type III Congenital Microtia. (27759585)
2016
8
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
9
Genetic Advances in the Understanding of Microtia. (27895971)
2016
10
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
11
Congenital Microtia Treated at Sapporo Medical University Hospital: Clinical Characteristics and Associated Anomalies. (27115402)
2016
12
Paravertebral Nerve Block for Donor Site Pain in Stage I Microtia Reconstruction: A Pilot Study. (26908556)
2016
13
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
14
Associated anomalies in cases with anotia and microtia. (27818252)
2016
15
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. (27503514)
2016
16
Autologous Costochondral Microtia Reconstruction. (27097140)
2016
17
Teasing in younger and older children with microtia before and after ear reconstruction. (27609237)
2016
18
A Temporoparietal Fascia Pocket Method in Elevation of Reconstructed Auricle for Microtia. (28002245)
2016
19
Modular Component Assembly Approach to Microtia Reconstruction. (26720326)
2016
20
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
21
Microtia Reconstruction. (27712823)
2016
22
Could 3D bioprinted tissues offer future hope for microtia treatment? (27353851)
2016
23
Microtia in Cornelia de Lange syndrome: a case from Democratic Republic of the Congo. (27088280)
2016
24
Reconstruction of low hairline microtia of Treacher Collins syndrome with a hinged mastoid fascial flap. (26744099)
2016
25
Satisfactory surgical option for cartilage graft absorption in microtia reconstruction. (26857756)
2016
26
22q13 deletion syndrome in a fetus associated with microtia, hemivertebrae, and congenital heart defects on prenatal ultrasound. (27343339)
2016
27
Fabrication of three-dimensional scan-to-print ear model for microtia reconstruction. (27884347)
2016
28
Characterization of pediatric microtia cartilage: a reservoir of chondrocytes for auricular reconstruction using tissue engineering strategies. (27566509)
2016
29
Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China. (26681129)
2016
30
Genome-wide association scan suggests basis for microtia in Awassi sheep. (26990958)
2016
31
The Association of External and Middle Ear Anomaly and Mandibular Morphology in Congenital Microtia. (27093034)
2016
32
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
33
An Alternative Posterosuperior Auricular Fascia Flap for Ear Elevation During Microtia Reconstruction. (28032165)
2016
34
Chondrocytes from congenital microtia possess an inferior capacity for in vivo cartilage regeneration to healthy ear chondrocytes. (27860439)
2016
35
Three-dimensional autologous cartilage framework fabrication assisted by new additive manufactured ear-shaped templates for microtia reconstruction. (27496290)
2016
36
Aesthetic auricular reconstruction with autologous rib cartilage grafts in adult microtia patients. (26026221)
2015
37
Cartilage engineering using chondrocyte cell sheets and its application in reconstruction of microtia. (25755694)
2015
38
Precision of three-dimensional stereo-photogrammetry (3dMDa8c) in anthropometry of the auricle and its application in microtia reconstruction. (25892285)
2015
39
Response to "Congenital microtia in a neonate suspected of isotretinoin exposure one month before pregnancy: A case report". (26310204)
2015
40
A New Flap Technique for Reconstruction of Microtia and Congenital Aural Atresia. (27011544)
2015
41
Response to "Letter to Congenital microtia in a neonate suspected of isotretinoin exposure one month before pregnancy: A case report". (26420276)
2015
42
Pre and post-operative psychological functioning in younger and older children with microtia. (25573811)
2015
43
Bioinformatics analysis of microRNA comprehensive regulatory network in congenital microtia. (26282502)
2015
44
Online support groups for Microtia. (26454529)
2015
45
Estimation of eighth costal cartilage in surgical timing of microtia reconstruction. (25569388)
2015
46
A simple ear splint for microtia patients. (26096122)
2015
47
Two stage ear/microtia reconstruction using costal cartilage. (26981464)
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
The Rib Cartilage Concept in Microtia. (26667633)
2015
50
Chondrogenesis of Human Adipose-Derived Stem Cells by In Vivo Co-graft with Auricular Chondrocytes from Microtia. (25861768)
2015

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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Sources for Microtia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet