MCID: MCR103
MIFTS: 55

Microtia malady

Genetic diseases, Ear diseases, Fetal diseases, Rare diseases categories
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Summaries for Microtia

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Microtia is a congenital deformity where the pinna (external ear) is underdeveloped. A completely... more...

MalaCards: Microtia is related to goldenhar syndrome and meier-gorlin syndrome 1. An important gene associated with Microtia is HOXA2 (homeobox A2), and among its related pathways are Cell Cycle Control of Chromosomal Replication and E2F transcription factor network. The compounds rrna and platinum compounds have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are respiratory system and hearing/vestibular/ear.

Description from OMIM:47 128800,600674

Aliases & Classifications for Microtia

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Sources:
20GeneTests, 45Novoseek, 49Orphanet, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

microtia 20 45 49 47


External Ids:

MESH via Orphanet36 C537772
ICD10 via Orphanet26 Q17.2
SNOMED-CT via Orphanet59 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 125)
idRelated DiseaseScoreTop Affiliating Genes
1goldenhar syndrome30.3TCOF1
2meier-gorlin syndrome 130.3ORC1
3choanal atresia29.8EFTUD2, TCOF1
4treacher collins syndrome 329.8TCOF1, EFTUD2
5congenital deafness with labyrinthine aplasia, microtia, and microdontia10.5
6deafness with labyrinthine aplasia microtia and microdontia10.4
7microphthalmia microtia fetal akinesia10.4
8hypertelorism, microtia, facial clefting syndrome10.3
9anotia10.3
10mastocytosis cutaneous with short stature conductive hearing loss and microtia10.3
11microtia eye coloboma and imperforation of the nasolacrimal duct10.3
12microtia-anotia10.3
13gupta patton syndrome10.2
14microtia, hearing impairment, and cleft palate10.2
15dysostosis10.2
16congenital aural atresia10.2
17short stature10.2
18cholesteatoma10.1
19oculo-auriculo-vertebral spectrum10.1
20microtia with or without hearing impairment10.1
21microcephaly10.0
22cleft palate10.0
23renal agenesis10.0
24isotretinoin embryopathy like syndrome10.0
25mastocytosis10.0
26meier-gorlin syndrome10.0
27isotretinoin-like syndrome10.0
28cervical intraepithelial neoplasia10.0XRCC1, CDC6
29laryngeal benign neoplasm10.0ERCC2, XRCC1
30bladder carcinoma10.0XRCC1, ERCC2, FGF3
31bladder carcinoma in situ10.0XRCC1, ERCC2
32supravalvular aortic stenosis9.9
33diamond-blackfan anemia9.9
34treacher collins syndrome9.9
35pharyngitis9.9
36charge syndrome9.9
37bronchiectasis9.9
38cleft lip9.9
39microphthalmia9.9
40situs inversus9.9
41tonsillitis9.9
42androgen insensitivity syndrome9.9
43saethre-chotzen syndrome9.9
44coloboma9.9
45cerebritis9.9
46syndactyly9.9
47wolf-hirschhorn syndrome9.9
48aspartylglucosaminuria9.9
49walker-warburg syndrome9.9
50congenital diaphragmatic hernia9.9

Graphical network of the top 20 diseases related to Microtia:



Diseases related to microtia

Symptoms for Microtia

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

128800

Clinical features from OMIM:

128800,600674

Drugs & Therapeutics for Microtia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Microtia

Search NIH Clinical Center 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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Sources:
33MalaCards
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MalaCards organs/tissues related to Microtia:

33
Bone, Skin, Testes, Heart, Kidney, Salivary gland, Tonsil

Animal Models for Microtia or affiliated genes

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Sources:
37MGI
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Publications for Microtia

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Sources:
52PubMed
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Articles related to Microtia:

(show top 50)    (show all 322)
idTitleAuthorsYear
1
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (23775976)
2013
2
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
3
The role of HRCT and three-dimensional VR CT findings in patients of congenital atresia combined with microtia. (23021463)
2012
4
Mutational analysis of PACT gene in Chinese patients with microtia. (21595004)
2011
5
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. (20542577)
2010
6
An update on auricular reconstruction: three major auricular malformations of microtia, prominent ear and cryptotia. (20856117)
2010
7
Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan). (21428189)
2010
8
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
9
Generating ears from cultured autologous auricular chondrocytes by using two-stage implantation in treatment of microtia. (19730300)
2009
10
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
11
Lifting the reconstructed ear using remnant ear cartilage in lobule-type microtia. (18662899)
2009
12
Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings. (19050404)
2009
13
Ten-year experience in microtia reconstruction using tissue expander and autogenous cartilage. (18572254)
2008
14
Soft-tissue reconstruction for atypical microtia malformations and trauma. (18711064)
2008
15
Salvage of cartilage framework exposure in microtia reconstruction using a mastoid fascial flap. (19095209)
2008
16
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)
2008
17
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
18
Modification of the second stage of auricular elevation in Nagata's technique for treating microtia. (17486515)
2007
19
Novel use of a delayed chondrofascial flap in microtia reconstruction. (17372067)
2007
20
Atlanto-axial rotatory fixation following ear surgery for microtia. (16462375)
2006
21
Combined microtia and aural atresia: issues in cochlear implantation. (15630363)
2005
22
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
23
Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. (16359491)
2005
24
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
25
Vascular supply of the subcutaneous pedicle of Nagata's method in microtia reconstruction. (15544777)
2004
26
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
27
Microtia reconstruction: an update. (14515077)
2003
28
Auricular reconstruction for microtia: Part II. Surgical techniques. (12087261)
2002
29
Do not forget the fundamental merits of microtia repair using a tissue expander. (11818882)
2002
30
Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. (11700460)
2001
31
Computer-aided surgery and tissue expansion in auricular reconstruction for microtia. (11584500)
2001
32
Resonance imaging of the eustachian tube cartilage in microtia. (9482220)
1998
33
Combined aesthetic and functional treatment of microtia. (9204175)
1997
34
Auricular reconstruction of congenital microtia (grade III). (8955687)
1996
35
Residual problems in chest donor sites after microtia reconstruction: a long-term study. (7732143)
1995
36
A case of lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia. (7551163)
1995
37
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
38
Modification of the stages in total reconstruction of the auricle: Part I. Grafting the three-dimensional costal cartilage framework for lobule-type microtia. (8310014)
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
New concept in microtia repair. (3408567)
1988
43
Craniofacial changes in unilateral microtia: I. An anthropometric study. (6736223)
1984
44
The surgical treatment of microtia: a long-term review of 17 patients. (7082896)
1982
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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Sources:
2BioGPS, 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:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 30KEGG, 55Reactome, 60Thomson Reuters, 12EMD Millipore, 5Cell Signaling Technology
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Pathways related to Microtia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CDT1, CDC6
29.4ORC1, XRCC1, CDC6
3
Show member pathways
Cell cycle38
9.3CDC6, ORC6, ORC4, ORC1
4
Show member pathways
9.3ORC6, ORC4, ORC1, CDC6
5
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.1CDC6, ORC6, ORC4, CDT1, ORC1
6
Show member pathways
9.1CDT1, CDC6, ORC1, ORC4, ORC6
7
Show member pathways
Cell cycle Start of DNA replication in early S phase60
DNA Replication38
9.1CDC6, ORC1, ORC4, ORC6, CDT1
8
Show member pathways
9.1ORC4, ORC6, CDT1, ORC1, CDC6
9
Show member pathways
8.8XRCC1, ERCC2, XRCC4
10
Show member pathways
8.8ERCC2, XRCC1, XRCC4
118.5CDT1, ORC6, ORC4, ORC1, XRCC1, CDC6
12
Show member pathways
8.5CDC6, CDT1, XRCC1, ORC6, ERCC2, ORC1

Compounds for genes affiliated with Microtia

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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Microtia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1rrna459.8TCOF1, RPS19
2platinum compounds519.7XRCC1, ERCC2
3cotinine45 2410.6XRCC1, ERCC2
4platinum45 5110.6ERCC2, XRCC1
5fluorouracil51 1110.5XRCC1, ERCC2
6mspi459.3XRCC1, ERCC2
7polynucleotide459.2XRCC1, XRCC4

GO Terms for genes affiliated with Microtia

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

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:0008089.6ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:0056649.5ORC6, ORC4, ORC1
3nucleolusGO:0057307.6ORC1, EFTUD2, TCOF1, XRCC4, RPS19, CDC6
4nucleoplasmGO:0056546.8CDC6, ERCC2, XRCC4, XRCC1, EFTUD2, ORC1
5nucleusGO:0056345.4TCOF1, CDT1, CDC6, ERCC2, SIX2, GSC

Biological processes related to Microtia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:00007610.1CDT1, CDC6
2semicircular canal morphogenesisGO:04875210.0FGF3, EYA1
3outer ear morphogenesisGO:0424739.9EYA1, PRKRA
4regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.8ORC1, CDC6, CDT1
5DNA replication initiationGO:0062709.8ORC4, ORC1
6anatomical structure morphogenesisGO:0096539.7FGF3, SIX2, EYA1
7embryonic skeletal system morphogenesisGO:0487049.5GSC, EYA1
8middle ear morphogenesisGO:0424749.4SIX2, HOXA2, EYA1, PRKRA, GSC
9DNA replicationGO:0062609.3ORC6, ORC1, CDC6, CDT1, ORC4
10G1/S transition of mitotic cell cycleGO:0000829.3ORC4, ORC6, CDT1, CDC6, ORC1
11mitotic cell cycleGO:0002789.3CDT1, CDC6, ORC6, ORC4, ORC1
12positive regulation of transcription from RNA polymerase II promoterGO:0459448.9BMP5, HOXA2, SIX2, ERCC2, EYA1
13gene expressionGO:0104678.8EFTUD2, PRKRA, RPS19, ERCC2

Molecular functions related to Microtia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171119.6CDC6, ORC1, ORC4
2protein bindingGO:0055154.9FGF3, ORC6, ORC4, ORC1, EYA1, EFTUD2

Products for genes affiliated with Microtia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Microtia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet