MCID: MCR103
MIFTS: 41

Microtia malady

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

Aliases & Classifications for Microtia

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Sources:
22GeneTests, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10
See all MalaCards sources

Aliases & Descriptions for Microtia:

Name: Microtia 22 47 51

Characteristics:

Orphanet epidemiological data:

51
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:



External Ids:

Orphanet51 83463
ICD10 via Orphanet28 Q17.2
MESH via Orphanet37 C537772
ICD1027 Q17.2

Summaries for Microtia

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Wikipedia:68 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 E2F transcription factor network and Cell cycle. Affiliated tissues include thyroid, breast and t cells, and related mouse phenotypes are embryo and limbs/digits/tail.

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 73)
idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 130.8BMP5, CDC6, CDT1, ORC1, ORC4, ORC6
2deafness, congenital with inner ear agenesis, microtia, and microdontia12.2
3microtia, hearing impairment, and cleft palate12.1
4microtia-anotia12.1
5deafness with labyrinthine aplasia microtia and microdontia12.1
6hypertelorism, microtia, facial clefting syndrome12.1
7microtia with nasolacrimal duct imperforation and eye coloboma11.9
8microphthalmia microtia fetal akinesia11.9
9mastocytosis cutaneous with short stature conductive hearing loss and microtia11.8
10bilateral microtia-deafness-cleft palate syndrome11.8
11gupta patton syndrome11.2
12diamond blackfan anemia 15 with mandibulofacial dysostosis11.0
13isotretinoin embryopathy like syndrome11.0
14samson viljoen syndrome10.8
15wisconsin syndrome10.8
16isotretinoin-like syndrome10.8
17anotia10.7
18hemifacial microsomia10.5
19neonatal candidiasis10.3EFTUD2, TCOF1
20microphthalmia, isolated 110.2HOXA2, TCOF1
21mental retardation, autosomal recessive 4610.1EFTUD2, HOXA2, TCOF1
22mastoiditis10.0
23dysostosis10.0
24meier-gorlin syndrome 210.0
25ablepharon-macrostomia syndrome10.0
26meier-gorlin syndrome 310.0
27meier-gorlin syndrome 410.0
28meier-gorlin syndrome 510.0
29mandibulofacial dysostosis, guion-almeida type10.0
30cholesteatoma10.0
31oculo-auriculo-vertebral spectrum10.0
32microcephaly9.9
33situs inversus9.9
34mastocytosis9.9
35treacher collins syndrome 19.8
36craniofacial microsomia9.8
37pancreatic and cerebellar agenesis9.8EYA1, HOXA2, SIX2
38obesity9.7
39androgen insensitivity9.7
40alopecia9.7
41diamond-blackfan anemia9.7
42walker-warburg syndrome9.7
43acrofacial dysostosis9.7
44tonsillitis9.7
45rickets9.7
46microphthalmia9.7
47syndactyly9.7
48cornelia de lange syndrome9.7
49esophagitis9.7
50coloboma9.7

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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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

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 Microtia22

Anatomical Context for Microtia

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MalaCards organs/tissues related to Microtia:

33
Thyroid, Breast, T cells, Endothelial, Skin, Heart, Bone

Animal Models for Microtia or affiliated genes

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MGI Mouse Phenotypes related to Microtia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.7BMP5, EYA1, FGF3, GSC, HOXA2, TCOF1
2MP:00053718.6BMP5, FGF3, GSC, PRKRA, RPS19, TWIST2
3MP:00053888.5BMP5, EYA1, GSC, HOXA2, PRKRA, TCOF1
4MP:00053827.7BMP5, EYA1, GSC, HOXA2, PRKRA, TCOF1
5MP:00053777.7BMP5, EYA1, FGF3, GSC, HOXA2, PRKRA
6MP:00053867.0BMP5, ERCC2, EYA1, FGF3, GSC, HOXA2
7MP:00053906.6BMP5, ERCC2, EYA1, FGF3, GSC, HOXA2
8MP:00053786.2BMP5, ERCC2, EYA1, FGF3, GSC, HOXA2
9MP:00107685.0BMP5, CDC6, ERCC2, EYA1, FGF3, GSC

Publications for Microtia

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Articles related to Microtia:

(show top 50)    (show all 394)
idTitleAuthorsYear
1
Analysis of Rib Cartilages Anomalies in Patients With Microtia. (27192635)
2016
2
Chondrogenesis of Human Adipose-Derived Stem Cells by In Vivo Co-graft with Auricular Chondrocytes from Microtia. (25861768)
2015
3
Aesthetic auricular reconstruction with autologous rib cartilage grafts in adult microtia patients. (26026221)
2015
4
Microtia Reconstruction and Postsurgical Grisel's Syndrome: A Rare Cause of Torticollis in a Child. (25289369)
2014
5
Microtia reconstruction. (25158724)
2014
6
Phenotypic characterization and risk factors for microtia in East China, a case-control study. (25281337)
2014
7
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (23775976)
2013
8
Unusual association of bilateral persistent stapedial arteries and microtia with bilateral ossicular anomalies resulting in conductive hearing loss. (23446325)
2013
9
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
10
Mutational analysis of PACT gene in Chinese patients with microtia. (21595004)
2011
11
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. (20542577)
2010
12
An update on auricular reconstruction: three major auricular malformations of microtia, prominent ear and cryptotia. (20856117)
2010
13
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
14
Generating ears from cultured autologous auricular chondrocytes by using two-stage implantation in treatment of microtia. (19730300)
2009
15
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
16
Lifting the reconstructed ear using remnant ear cartilage in lobule-type microtia. (18662899)
2009
17
Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings. (19050404)
2009
18
Ten-year experience in microtia reconstruction using tissue expander and autogenous cartilage. (18572254)
2008
19
Soft-tissue reconstruction for atypical microtia malformations and trauma. (18711064)
2008
20
Salvage of cartilage framework exposure in microtia reconstruction using a mastoid fascial flap. (19095209)
2008
21
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)
2008
22
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
23
Modification of the second stage of auricular elevation in Nagata's technique for treating microtia. (17486515)
2007
24
Atlanto-axial rotatory fixation following ear surgery for microtia. (16462375)
2006
25
Combined microtia and aural atresia: issues in cochlear implantation. (15630363)
2005
26
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
27
Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. (16359491)
2005
28
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
29
Vascular supply of the subcutaneous pedicle of Nagata's method in microtia reconstruction. (15544777)
2004
30
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
31
Microtia reconstruction: an update. (14515077)
2003
32
Auricular reconstruction for microtia: Part II. Surgical techniques. (12087261)
2002
33
Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. (11700460)
2001
34
Computer-aided surgery and tissue expansion in auricular reconstruction for microtia. (11584500)
2001
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
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
39
New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. (8484406)
1993
40
Microtia as an autosomal dominant mutation in a transgenic mouse line: a possible animal model of branchial arch anomalies. (2031565)
1991
41
Microtia and associated anomalies: statistical analysis. (2624271)
1989
42
Craniofacial changes in unilateral microtia: I. An anthropometric study. (6736223)
1984
43
The surgical treatment of microtia: a long-term review of 17 patients. (7082896)
1982
44
Classification and multidisciplinary management of microtia. (7335362)
1981
45
Inheritance of microtia and aural atresia in a family with five affected members. (519905)
1979
46
Reconstruction of microtia using the Silastic frame. (359220)
1978
47
Microtia in New Mexico: evidence for multifactorial causation. (884237)
1977
48
Anatomical variation of ear in microtia. (4412019)
1974
49
The technique of construction of the auricle in congenital microtia. (13695202)
1961
50

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:000007610.4CDC6, CDT1
2mesodermal cell fate specificationGO:000750110.2EYA1, SIX2
3outer ear morphogenesisGO:00424739.8EYA1, PRKRA
4embryonic skeletal system morphogenesisGO:00487049.8GSC, HOXA2, SIX2
5middle ear morphogenesisGO:00424749.6HOXA2, PRKRA, SIX2
6anatomical structure morphogenesisGO:00096539.2EYA1, FGF3, GSC, SIX2
7pattern specification processGO:00073899.0BMP5, EYA1, HOXA2

Sources for Microtia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet