MCID: MCR103
MIFTS: 40

Microtia malady

Genetic diseases, Ear diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Microtia

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Sources:
22GeneTests, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 27ICD10
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Aliases & Descriptions for Microtia:

Name: Microtia 22 47 51


Classifications:



Characteristics (Orphanet epidemiological data):

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


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 treacher collins syndrome 1 and meier-gorlin syndrome 1. 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 bone, skin and testes, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

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 167)
idRelated DiseaseScoreTop Affiliating Genes
1treacher collins syndrome 130.1EFTUD2, HOXA2, TCOF1
2meier-gorlin syndrome 130.0BMP5, CDC6, CDT1, ORC1, ORC4, ORC6
3deafness, congenital with inner ear agenesis, microtia, and microdontia10.6
4microtia, hearing impairment, and cleft palate10.5
5deafness with labyrinthine aplasia microtia and microdontia10.5
6microtia-anotia10.5
7microphthalmia microtia fetal akinesia10.4
8hypertelorism, microtia, facial clefting syndrome10.4
9anotia10.4
10microtia with nasolacrimal duct imperforation and eye coloboma10.3
11gupta patton syndrome10.3
12mastocytosis cutaneous with short stature conductive hearing loss and microtia10.3
13hemifacial microsomia10.3
14ablepharon-macrostomia syndrome10.2
15dysostosis10.2
16meier-gorlin syndrome 210.1
17meier-gorlin syndrome 310.1
18meier-gorlin syndrome 410.1
19meier-gorlin syndrome 510.1
20mandibulofacial dysostosis, guion-almeida type10.1
21cholesteatoma10.1
22oculo-auriculo-vertebral spectrum10.1
23bilateral microtia - deafness - cleft palate10.1
24urethral calculus10.1EFTUD2, TCOF1
25peters anomaly10.0
26townes-brocks syndrome10.0
27diamond blackfan anemia 15 with mandibulofacial dysostosis10.0
28microcephaly10.0
29mastoiditis10.0
30situs inversus10.0
31coxoauricular syndrome10.0
32isotretinoin embryopathy like syndrome10.0
33mastocytosis10.0
34microsomia hemifacial radial defects10.0
35isotretinoin-like syndrome10.0
36microphthalmia, isolated 110.0HOXA2, TCOF1
37chromosome 1p36 deletion syndrome9.9
38cousin syndrome9.9
39gaucher disease, perinatal lethal9.9
40acrofacial dysostosis 1, nager type9.9
41agnathia-otocephaly complex9.9
42chromosome 1q41-q42 deletion syndrome9.9
43fanconi anemia, complementation group l9.9
44visceral myopathy9.9
45acrofacial dysostosis, cincinnati type9.9
46microcephalic osteodysplastic primordial dwarfism, type i9.9
47obesity9.9
48short stature, onychodysplasia, facial dysmorphism, and hypotrichosis9.9
49chanarin-dorfman syndrome9.9
50ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 39.9

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

Animal Models for Microtia or affiliated genes

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MGI Mouse Phenotypes related to Microtia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.4BMP5, EYA1, FGF3, GSC, HOXA2, PRKRA
2MP:00053888.4BMP5, EYA1, GSC, HOXA2, PRKRA, TCOF1
3MP:00053808.2BMP5, EYA1, FGF3, GSC, HOXA2, TCOF1
4MP:00053827.8BMP5, EYA1, GSC, HOXA2, PRKRA, TCOF1
5MP:00053907.1BMP5, ERCC2, EYA1, FGF3, GSC, HOXA2
6MP:00107685.1BMP5, CDC6, ERCC2, EYA1, FGF3, GSC

Publications for Microtia

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Articles related to Microtia:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
Chondrogenesis of Human Adipose-Derived Stem Cells by In Vivo Co-graft with Auricular Chondrocytes from Microtia. (25861768)
2015
2
Aesthetic auricular reconstruction with autologous rib cartilage grafts in adult microtia patients. (26026221)
2015
3
Microtia Reconstruction and Postsurgical Grisel's Syndrome: A Rare Cause of Torticollis in a Child. (25289369)
2014
4
Microtia reconstruction. (25158724)
2014
5
Phenotypic characterization and risk factors for microtia in East China, a case-control study. (25281337)
2014
6
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (23775976)
2013
7
Unusual association of bilateral persistent stapedial arteries and microtia with bilateral ossicular anomalies resulting in conductive hearing loss. (23446325)
2013
8
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
9
The role of HRCT and three-dimensional VR CT findings in patients of congenital atresia combined with microtia. (23021463)
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
Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan). (21428189)
2010
14
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
15
Generating ears from cultured autologous auricular chondrocytes by using two-stage implantation in treatment of microtia. (19730300)
2009
16
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
17
Lifting the reconstructed ear using remnant ear cartilage in lobule-type microtia. (18662899)
2009
18
Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings. (19050404)
2009
19
Ten-year experience in microtia reconstruction using tissue expander and autogenous cartilage. (18572254)
2008
20
Soft-tissue reconstruction for atypical microtia malformations and trauma. (18711064)
2008
21
Salvage of cartilage framework exposure in microtia reconstruction using a mastoid fascial flap. (19095209)
2008
22
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)
2008
23
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
24
Modification of the second stage of auricular elevation in Nagata's technique for treating microtia. (17486515)
2007
25
Atlanto-axial rotatory fixation following ear surgery for microtia. (16462375)
2006
26
Combined microtia and aural atresia: issues in cochlear implantation. (15630363)
2005
27
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
28
Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. (16359491)
2005
29
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
30
Vascular supply of the subcutaneous pedicle of Nagata's method in microtia reconstruction. (15544777)
2004
31
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
32
Microtia reconstruction: an update. (14515077)
2003
33
Auricular reconstruction for microtia: Part II. Surgical techniques. (12087261)
2002
34
Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. (11700460)
2001
35
Computer-aided surgery and tissue expansion in auricular reconstruction for microtia. (11584500)
2001
36
Resonance imaging of the eustachian tube cartilage in microtia. (9482220)
1998
37
Combined aesthetic and functional treatment of microtia. (9204175)
1997
38
Residual problems in chest donor sites after microtia reconstruction: a long-term study. (7732143)
1995
39
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
40
New lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. (8484406)
1993
41
Microtia as an autosomal dominant mutation in a transgenic mouse line: a possible animal model of branchial arch anomalies. (2031565)
1991
42
Microtia and associated anomalies: statistical analysis. (2624271)
1989
43
New concept in microtia repair. (3408567)
1988
44
Craniofacial changes in unilateral microtia: I. An anthropometric study. (6736223)
1984
45
Classification and multidisciplinary management of microtia. (7335362)
1981
46
Inheritance of microtia and aural atresia in a family with five affected members. (519905)
1979
47
Reconstruction of microtia using the Silastic frame. (359220)
1978
48
Microtia in New Mexico: evidence for multifactorial causation. (884237)
1977
49
Anatomical variation of ear in microtia. (4412019)
1974
50
The technique of construction of the auricle in congenital microtia. (13695202)
1961

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:000080810.5ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:000566410.5ORC1, ORC4, ORC6
3nucleoplasmGO:00056545.8CDC6, CDT1, EFTUD2, ERCC2, EYA1, HOXA2
4nucleusGO:00056345.8CDC6, CDT1, EFTUD2, ERCC2, EYA1, GSC

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1semicircular canal morphogenesisGO:004875210.3EYA1, FGF3
2outer ear morphogenesisGO:004247310.3EYA1, PRKRA
3DNA replication checkpointGO:000007610.3CDC6, CDT1
4DNA replication initiationGO:000627010.2CDC6, ORC1, ORC4
5regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.8CDC6, CDT1, ORC1
6pattern specification processGO:00073899.8BMP5, EYA1, HOXA2
7embryonic skeletal system morphogenesisGO:00487049.6EYA1, GSC, HOXA2, SIX2
8anatomical structure morphogenesisGO:00096539.5EYA1, FGF3, GSC, SIX2
9G1/S transition of mitotic cell cycleGO:00000829.4CDC6, CDT1, ORC1, ORC4, ORC6
10middle ear morphogenesisGO:00424749.3EYA1, GSC, HOXA2, PRKRA, SIX2
11mitotic cell cycleGO:00002789.2CDC6, CDT1, ORC1, ORC4, ORC6
12double-strand break repairGO:00063029.1EYA1, XRCC1, XRCC4
13DNA replicationGO:00062609.0CDC6, CDT1, ORC1, ORC4, ORC6
14DNA repairGO:00062818.4ERCC2, EYA1, XRCC1, XRCC4

Molecular functions related to Microtia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036777.6CDT1, ERCC2, GSC, HOXA2, ORC1, ORC4
2protein bindingGO:00055154.4BMP5, CDC6, CDT1, EFTUD2, ERCC2, EYA1

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