MCID: MCR103
MIFTS: 40

Microtia malady

Summaries for Microtia

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64Wikipedia, 33MalaCards
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Wikipedia:64 Microtia is a congenital deformity where the pinna (external ear) is underdeveloped. A completely... more...

MalaCards: Microtia is related to cleft palate and goldenhar syndrome. An important gene associated with Microtia is FGF3 (fibroblast growth factor 3), and among its related pathways are E2F transcription factor network and Activation of ATR in response to replication stress. The compounds cotinine and platinum compounds have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and kidney, and related mouse phenotypes are respiratory system and embryogenesis.

Aliases & Classifications for Microtia

Sources:
20GeneTests, 45Novoseek
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Aliases & Descriptions:

microtia 20 45


Related Diseases for Microtia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the microtia with or without hearing impairment family:

microtia

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

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate30.1TCOF1, HOXA2
2goldenhar syndrome29.9TCOF1
3microcephaly29.9EFTUD2
4coloboma29.7TCOF1
5treacher collins syndrome 329.7EFTUD2, TCOF1
6micro syndrome10.6
7congenital deafness with labyrinthine aplasia, microtia, and microdontia10.4
8congenital aural atresia10.4
9microphthalmia microtia fetal akinesia10.4
10deafness with labyrinthine aplasia microtia and microdontia10.3
11microtia-anotia10.3
12anotia10.3
13n syndrome10.2
14microtia eye coloboma and imperforation of the nasolacrimal duct10.2
15mastocytosis cutaneous with short stature conductive hearing loss and microtia10.2
16short syndrome10.2
17microtia, hearing impairment, and cleft palate10.2
18hypertelorism, microtia, facial clefting syndrome10.1
19bixler christian gorlin syndrome10.1
20microtia, meatal atresia and conductive deafness10.1
21short stature10.1
22meier-gorlin syndrome 110.1
23renal agenesis10.0
24congenital diaphragmatic hernia10.0
25char syndrome10.0
26kabuki syndrome10.0
27johnson neuroectodermal syndrome10.0
28familial deafness10.0
29gupta patton syndrome10.0
30isotretinoin embryopathy like syndrome10.0
31mastocytosis10.0
32microtia with or without hearing impairment10.0
33isotretinoin-like syndrome10.0
34isotretinoin syndrome10.0
35choanal atresia10.0TCOF1, EFTUD2
36xeroderma pigmentosum10.0ERCC2, XRCC1
37breast cancer10.0ERCC2, FGF3, XRCC4, XRCC1, RPS19
38treacher collins syndrome9.8
39diamond-blackfan anemia9.8
40supravalvular aortic stenosis9.8
41androgen insensitivity syndrome9.8
42saethre-chotzen syndrome9.8
43syndactyly9.8
44wolf-hirschhorn syndrome9.8
45aspartylglucosaminuria9.8
46walker-warburg syndrome9.8
47bronchiectasis9.8
48microphthalmia9.8
49situs inversus9.8
50arc syndrome9.8

Graphical network of the top 20 diseases related to Microtia:



Diseases related to microtia

Clinical Features for Microtia

Drugs & Therapeutics for Microtia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Microtia

Drug clinical trials:

Search ClinicalTrials for Microtia

Search NIH Clinical Center for Microtia

Search CenterWatch for Microtia

Genetic Tests for Microtia

Sources:
20GeneTests
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Genetic tests related to Microtia:

id Genetic test Affiliating Genes
1 Microtia20

Anatomical Context for Microtia

Sources:
33MalaCards
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MalaCards organs/tissues related to Microtia:

33
Heart, Skeletal muscle, Kidney, Salivary gland, Skin, Tonsil

Animal Models for Microtia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Microtia

Sources:
51PubMed
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Articles related to Microtia:

(show top 50)    (show all 327)
idTitleAuthorsYear
1
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (23775976)
2013
2
A novel technique for sculpting costal cartilage in microtia repair and rhinoplasty. (23765037)
2013
3
Does microtia predict severity of temporal bone CT abnormalities in children with persistent conductive hearing loss? (23428239)
2013
4
MicroRNA expression profiling and target genes study in congenital microtia. (23294929)
2013
5
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
6
Possible multifactorial etiology of isolated microtia/anotia--a population-based study. (22227122)
2012
7
Microtia and congenital aural atresia. (23147281)
2012
8
HRCT evaluation of microtia: A retrospective study. (23599567)
2012
9
No association between DNA repair gene (XPD, XRCC1, and XRCC4) polymorphisms and nonsyndromic microtia in Turkish patients. (21788800)
2011
10
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy. (21344626)
2011
11
Analysis of human auricular cartilage to guide tissue-engineered nanofiber-based chondrogenesis: implications for microtia reconstruction. (21908800)
2011
12
Complete androgen insensitivity syndrome with microtia: a rare presentation. (21264665)
2011
13
Expanded retroauricular skin and fascial flap in congenital microtia reconstruction. (20224343)
2010
14
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
15
Lifting the reconstructed ear using remnant ear cartilage in lobule-type microtia. (18662899)
2009
16
Basic techniques in autogenous microtia repair. (19809945)
2009
17
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)
2008
18
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
19
Ear shaper splint for microtia. (18503857)
2008
20
Framework changes using costal cartilage for microtia reconstruction. (18645129)
2008
21
Surgical results of two-stage reconstruction of the auricle in congenital microtia using an autogenous costal cartilage alone or combined with canaloplasty. (16525288)
2006
22
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. (15770127)
2005
23
A new device for creating and positioning an autogenous cartilage framework during microtia reconstruction. (16319627)
2005
24
Epidemiologic characteristics of anotia and microtia in California, 1989-1997. (15259037)
2004
25
Microtia repair. (12867860)
2003
26
Microtia repair with rib cartilage grafts: a review of personal experience with 1000 cases. (12120682)
2002
27
Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum? (12424776)
2002
28
The combined posterior temporoparietal and galeal fascial flap: a new flap in the elevation of the constructed auricle (second stage of microtia correction). (12528998)
2002
29
Clinical and radiological evaluation in children with microtia. (10890145)
1999
30
One-stage reconstruction of microtia in microform. (9915181)
1999
31
Techniques for improving ear definition in microtia reconstruction. (10365971)
1999
32
Resonance imaging of the eustachian tube cartilage in microtia. (9482220)
1998
33
Epidemiology and genetics of microtia-anotia: a registry based study on over one million births. (7666397)
1995
34
Unilateral microtia reconstruction: is the position symmetrical? (8415966)
1993
35
A new method of total reconstruction of the auricle for microtia. (8337267)
1993
36
Microtia, absent patellae, short stature, micrognathia syndrome. (1640440)
1992
37
Reconstruction of the crus helicis in mild microtia using a preauricular tag. (1924581)
1991
38
Secondary ear reconstruction using deep temporal fascia after temporoparietal fascial reconstruction in microtia. (2378497)
1990
39
Intractable retroauricular abscess associated with microtia and aural atresia--some views in relation to the congenital cholesteatoma and microtia. (2764463)
1989
40
Follow-up study of reconstructed auricle in microtia: comparison of the results of the rib cartilage framework and the silicone rubber framework methods. (2803118)
1989
41
Craniofacial changes in unilateral microtia: I. An anthropometric study. (6736223)
1984
42
The surgical treatment of microtia: a long-term review of 17 patients. (7082896)
1982
43
A distinct dominant form of microtia and conductive hearing loss. (7139104)
1982
44
A new method of reconstruction in microtia, with emphasis on conchal creation. (7425495)
1980
45
The correction of microtia with autogenous cartilage grafts: II. Atypical and complex deformities. (6994145)
1980
46
Follow-up study on reconstruction of microtia with a silicone framework. (4821207)
1974
47
Secondary reconstruction of microtia. (5776621)
1969
48
Familial microtia with meatal atresia in two sibships. (5713641)
1968
49
Construction of the auricle in unilateral congenital microtia. (4882160)
1968
50
SOME PROBLEMS OF AURICLE RECONSTRUCTION IN MICROTIA. (14236520)
1964

Genetic Variations for Microtia

Expression for genes affiliated with Microtia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Microtia

Search GEO for disease gene expression data for Microtia.

Pathways for genes affiliated with Microtia

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Microtia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6CDC6, ORC1, XRCC1
2
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9.3ORC1, ORC6, ORC4, CDC6
3
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9.3CDC6, ORC4, ORC6, ORC1
4
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9.2ERCC2, XRCC4, XRCC1
5
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9.0CDT1, CDC6, ORC4, ORC6, ORC1
6
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9.0CDT1, CDC6, ORC4, ORC6, ORC1
7
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9.0ORC1, ORC6, ORC4, CDC6, CDT1
8
Hide members
9.0ORC1, ORC6, ORC4, CDC6, CDT1
9
Hide members
9.0ORC1, ORC6, ORC4, CDC6, CDT1
10
Hide members
9.0ORC1, ORC6, ORC4, CDC6, CDT1
11
Hide members
9.0ORC1, ORC6, ORC4, CDC6, CDT1
12
Hide members
8.8XRCC1, ORC1, ORC6, CDC6, CDT1, ERCC2
138.7XRCC1, ORC1, ORC6, ORC4, CDC6, CDT1

Compounds for genes affiliated with Microtia

Sources:
45Novoseek, 24HMDB, 50PharmGKB
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Compounds related to Microtia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cotinine45 2410.8ERCC2, XRCC1
2platinum compounds509.7ERCC2, XRCC1
3polynucleotide459.2XRCC4, XRCC1

GO Terms for genes affiliated with Microtia

Sources:
16Gene Ontology
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Cellular components related to Microtia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:0008089.5ORC4, ORC6, ORC1
2nuclear origin of replication recognition complexGO:0056649.3ORC1, ORC6, ORC4
3nucleoplasmGO:0056547.2ERCC2, XRCC1, XRCC4, ORC1, ORC6, ORC4
4nucleusGO:0056345.3XRCC1, XRCC4, ORC1, ORC4, EFTUD2, CDC6

Biological processes related to Microtia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:00007610.1CDT1, CDC6
2regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.8CDT1, CDC6, ORC1
3DNA replication initiationGO:0062709.8ORC4, ORC1
4semicircular canal morphogenesisGO:0487529.5FGF3, EYA1
5outer ear morphogenesisGO:0424739.4PRKRA, EYA1
6DNA replicationGO:0062609.3ORC1, ORC6, ORC4, CDC6, CDT1
7G1/S transition of mitotic cell cycleGO:0000829.2ORC1, ORC6, ORC4, CDC6, CDT1
8mitotic cell cycleGO:0002789.2ORC1, ORC6, ORC4, CDC6, CDT1
9anatomical structure morphogenesisGO:0096539.1EYA1, FGF3, SIX2
10middle ear morphogenesisGO:0424748.6GSC, TSHZ1, SIX2, HOXA2, PRKRA, EYA1
11positive regulation of transcription from RNA polymerase II promoterGO:0459448.3ERCC2, SIX2, HOXA2, BMP5, EYA1

Molecular functions related to Microtia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171119.5CDC6, ORC4, ORC1
2protein bindingGO:0055155.1ERCC2, RPS19, EYA1, XRCC1, XRCC4, ORC1

Products for genes affiliated with Microtia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microtia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet