MCID: MCR103
MIFTS: 39

Microtia malady

Ear diseases, Fetal diseases categories

Summaries for Microtia

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 HOXA2 (homeobox A2), 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. Related mouse phenotypes are respiratory system and embryogenesis.

Description from OMIM:46 128800,600674

Aliases & Classifications for Microtia

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Sources:
20GeneTests, 44Novoseek, 48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Ear diseases


Characteristics (Orphanet epidemiological data):

48
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

microtia 20 44 48 46


External Ids:

MESH via Orphanet35 C537772
ICD10 via Orphanet26 Q17.2
SNOMED-CT via Orphanet57 35045004

Related Diseases for Microtia

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Microtia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate30.1TCOF1, HOXA2
2goldenhar syndrome29.9TCOF1
3microcephaly29.9EFTUD2
4coloboma29.7TCOF1
5choanal atresia29.7TCOF1, EFTUD2
6treacher collins syndrome 329.7EFTUD2, TCOF1
7congenital deafness with labyrinthine aplasia, microtia, and microdontia10.5
8microphthalmia microtia fetal akinesia10.3
9deafness with labyrinthine aplasia microtia and microdontia10.3
10microtia eye coloboma and imperforation of the nasolacrimal duct10.2
11mastocytosis cutaneous with short stature conductive hearing loss and microtia10.2
12microtia, hearing impairment, and cleft palate10.2
13hypertelorism, microtia, facial clefting syndrome10.1
14dysostosis10.1
15bixler christian gorlin syndrome10.1
16microtia, meatal atresia and conductive deafness10.1
17cholesteatoma10.1
18microtia-anotia10.1
19meier-gorlin syndrome 110.1
20microtia with or without hearing impairment10.1
21renal agenesis10.0
22kabuki syndrome10.0
23meier-gorlin syndrome10.0
24gupta patton syndrome10.0
25isotretinoin embryopathy like syndrome10.0
26isotretinoin-like syndrome10.0
27anotia10.0
28xeroderma pigmentosum10.0ERCC2, XRCC1
29breast cancer10.0ERCC2, FGF3, XRCC4, XRCC1, RPS19
30treacher collins syndrome9.8
31diamond-blackfan anemia9.8
32supravalvular aortic stenosis9.8
33androgen insensitivity syndrome9.8
34saethre-chotzen syndrome9.8
35cerebritis9.8
36syndactyly9.8
37wolf-hirschhorn syndrome9.8
38aspartylglucosaminuria9.8
39walker-warburg syndrome9.8
40pharyngitis9.8
41bronchiectasis9.8
42cleft lip9.8
43microphthalmia9.8
44situs inversus9.8
45tonsillitis9.8
46congenital diaphragmatic hernia9.8
47alopecia9.8
48cutaneous mastocytosis9.8
49esophagitis9.8
50keratosis9.8

Graphical network of the top 20 diseases related to Microtia:



Diseases related to microtia

Clinical Features for Microtia

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Sources:
46OMIM
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Clinical features from OMIM:

128800,600674

Clinical synopsis from OMIM:

128800

Drugs & Therapeutics for Microtia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Sources:
20GeneTests
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Genetic tests related to Microtia:

id Genetic test Affiliating Genes
1 Microtia20

Anatomical Context for Microtia

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Animal Models for Microtia or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Microtia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.1EYA1, BMP5, PRKRA, HOXA2, TCOF1, TSHZ1
2MP:00053808.0EYA1, XRCC1, BMP5, HOXA2, FGF3, TCOF1
3MP:00053778.0GSC, EYA1, BMP5, PRKRA, HOXA2, FGF3
4MP:00053818.0EYA1, BMP5, HOXA2, TCOF1, TSHZ1, GSC
5MP:00053787.8XRCC4, BMP5, PRKRA, HOXA2, FGF3, TCOF1
6MP:00053827.5EYA1, XRCC4, BMP5, PRKRA, HOXA2, TCOF1
7MP:00053867.2EYA1, XRCC1, ORC4, BMP5, HOXA2, FGF3
8MP:00053907.1EYA1, XRCC4, BMP5, PRKRA, HOXA2, FGF3
9MP:00107685.9PRKRA, BMP5, XRCC4, XRCC1, EYA1, RPS19

Publications for Microtia

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Genetic Variations for Microtia

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Expression for genes affiliated with Microtia

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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

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG, 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, XRCC1, ORC1
2
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9.3ORC4, CDC6, ORC6, ORC1
3
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9.3ORC6, ORC1, CDC6, ORC4
4
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9.2ERCC2, XRCC1, XRCC4
5
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9.0CDT1, ORC1, CDC6, ORC4, ORC6
6
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9.0ORC6, CDT1, CDC6, ORC1, ORC4
7
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9.0CDT1, CDC6, ORC4, ORC1, ORC6
8
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9.0CDC6, CDT1, ORC6, ORC1, ORC4
9
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9.0CDT1, CDC6, ORC6, ORC1, ORC4
10
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9.0CDC6, ORC4, ORC6, ORC1, CDT1
11
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9.0ORC1, ORC6, ORC4, CDT1, CDC6
12
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8.8CDT1, XRCC1, ORC1, ORC6, ERCC2, CDC6
138.7CDC6, ORC4, ORC6, CDT1, XRCC1, ORC1

Compounds for genes affiliated with Microtia

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Sources:
44Novoseek, 24HMDB, 49PharmGKB
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Compounds related to Microtia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cotinine44 2410.8ERCC2, XRCC1
2platinum compounds499.7ERCC2, XRCC1
3polynucleotide449.2XRCC4, XRCC1

GO Terms for genes affiliated with Microtia

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

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:0008089.5ORC1, ORC6, ORC4
2nuclear origin of replication recognition complexGO:0056649.3ORC4, ORC6, ORC1
3nucleoplasmGO:0056547.2ERCC2, CDT1, CDC6, EFTUD2, ORC4, ORC6
4nucleusGO:0056345.3XRCC1, GSC, TSHZ1, ERCC2, TCOF1, SIX2

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microtia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet