MCID: MCR103
MIFTS: 40

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 t cells, liver and colon, 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 277)
idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 131.9BMP5, CDC6, CDT1, ORC1, ORC4, ORC6
2deafness, congenital with inner ear agenesis, microtia, and microdontia12.6
3microtia, hearing impairment, and cleft palate12.5
4hypertelorism, microtia, facial clefting syndrome12.5
5microtia-anotia12.4
6deafness with labyrinthine aplasia microtia and microdontia12.4
7microtia with nasolacrimal duct imperforation and eye coloboma12.3
8microphthalmia microtia fetal akinesia12.3
9mastocytosis cutaneous with short stature conductive hearing loss and microtia12.2
10bilateral microtia-deafness-cleft palate syndrome12.2
11gupta patton syndrome11.6
12diamond blackfan anemia 15 with mandibulofacial dysostosis11.4
13isotretinoin embryopathy like syndrome11.4
14samson viljoen syndrome11.2
15wisconsin syndrome11.2
16isotretinoin-like syndrome11.2
17meier-gorlin syndrome 210.4
18ablepharon-macrostomia syndrome10.4
19meier-gorlin syndrome 310.4
20meier-gorlin syndrome 410.4
21meier-gorlin syndrome 510.4
22mandibulofacial dysostosis, guion-almeida type10.4
23anotia10.4
24breast cancer10.3
25hepatitis10.3
26leukemia10.3
27treacher collins syndrome 110.2
28hemifacial microsomia10.2
29craniofacial microsomia10.2
30pancreatitis10.2
31endotheliitis10.2
32neonatal candidiasis10.2EFTUD2, TCOF1
33microphthalmia, isolated 110.2HOXA2, TCOF1
34colorectal cancer10.1
35lung cancer10.1
36asthma10.1
37keratitis10.1
38lymphoma10.1
39sarcoma10.1
40cerebritis10.1
41thyroiditis10.1
42mental retardation, autosomal recessive 4610.1EFTUD2, HOXA2, TCOF1
43renal cell carcinoma10.0
44multiple myeloma10.0
45arthritis10.0
46myeloma10.0
47conduct disorder10.0
48hereditary angioedema10.0
49angioedema10.0
50melanoma10.0

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
T cells, Liver, Colon, Brain, Breast, Endothelial, Thyroid

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 376)
idTitleAuthorsYear
1
Population Pharmacokinetic/Pharmacodynamic Modeling of Sunitinib by Dosing Schedule in Patients with Advanced Renal Cell Carcinoma or Gastrointestinal Stromal Tumor. (27154065)
2016
2
Significantly improved thermostability of a reductase CgKR1 from Candida glabrata with a key mutation at Asp 138 for enhancing bioreduction of aromatic I+-keto esters. (25795440)
2015
3
Malakoplakia and Primary Immunodeficiency. (25155967)
2014
4
ASK1-MAP kinase signaling pathway as a therapeutic target for human diseases]. (24912301)
2014
5
Direct determination of multiple ligand interactions with the extracellular domain of the calcium-sensing receptor. (25305020)
2014
6
RAM function is dependent on KapI^2-mediated nuclear entry. (24200467)
2014
7
Rapamycin sensitizes glucocorticoid resistant acute lymphoblastic leukemia CEM-C1 cells to dexamethasone induced apoptosis through both mTOR suppression and up-regulation and activation of glucocorticoid receptor. (23611130)
2013
8
p53 regulates nuclear GSK-3 levels through miR-34-mediated Axin2 suppression in colorectal cancer cells. (23624843)
2013
9
Genotype-phenotype correlation in primary carnitine deficiency. (21922592)
2012
10
Interferon regulatory factor 7 is a major hub connecting interferon-mediated responses in virus-induced asthma exacerbations in vivo. (22112518)
2012
11
Reactive amyloidosis complicated by end-stage renal disease 28 years after liquid silicone injection in the buttocks. (23035166)
2012
12
Enhanced endothelin-1 system activity with overweight and obesity. (21666117)
2011
13
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. (21987686)
2011
14
Molecular epidemiology of hepatitis A virus infections in Catalonia, Spain, 2005-2009: circulation of newly emerging strains. (21798796)
2011
15
A large-scale association analysis of 68 thyroid hormone pathway genes with serum TSH and FT4 levels. (21367965)
2011
16
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
2010
17
Lymphangioma circumscriptum of the tongue: successful treatment using intralesional bleomycin. (19545460)
2009
18
Vitamin C for the common cold should not be rejected on the basis of old and erroneous articles. (19660806)
2009
19
Enhanced interleukin-2 diphtheria toxin conjugate-induced growth suppression in retinoic acid-treated hypoxic hepatocellular carcinoma cells. (18986761)
2009
20
Four-gene expression ratio test for survival in patients undergoing surgery for mesothelioma. (19401544)
2009
21
Cell cycle-related acquisition of cytotoxic mediators defines the progressive differentiation to effector status for virus-specific CD8+ T cells. (18768835)
2008
22
Anti-cancer effects of xanthones from pericarps of mangosteen. (19325754)
2008
23
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. (17517249)
2007
24
Regional expression of prostaglandin E2 and F2alpha receptors in human myometrium, amnion, and choriodecidua with advancing gestation and labor. (16707767)
2006
25
Positive association of obesity with single nucleotide polymorphisms of syndecan 3 in the Korean population. (17018662)
2006
26
Functional and molecular analysis of L-type calcium channels in human esophagus and lower esophageal sphincter smooth muscle. (16020652)
2005
27
Minimal functions and physiological conditions required for growth of salmonella enterica on ethanolamine in the absence of the metabolosome. (16291677)
2005
28
Bcl-2 family members as sentinels of cellular integrity and role of mitochondrial intermembrane space proteins in apoptotic cell death. (14646342)
2004
29
Role of free radicals in failure of fatty liver grafts caused by ethanol. (15670666)
2004
30
Role of mitogen-activated protein kinase family in serum-induced leukaemia inhibitory factor and interleukin-6 secretion by bone marrow stromal cells. (12145097)
2002
31
Altered expression of connexins 26 and 43 in Sertoli cells in seminiferous tubules infiltrated with carcinoma-in-situ or seminoma. (12210085)
2002
32
A virtual screening method for prediction of the HERG potassium channel liability of compound libraries. (12007180)
2002
33
Complex karyotype in one patient with small cell variant of T-prolymphocytic leukemia. Analysis by G-banding and comparative genomic hybridization. (11255284)
2001
34
Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene. (11178108)
2001
35
Isolation of endothelial cells from brain, lung, and kidney: expression of the multidrug resistance P-glycoprotein isoforms. (11237734)
2001
36
Cultures of astrocytes and microglia express interleukin 18. (10101231)
1999
37
Fluctuating clinical myotonia and weakness from Thomsen's disease occurring only during pregnancies. (10467912)
1999
38
Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer. (9808526)
1998
39
Cytomorphometric analysis of squames obtained from normal oral mucosa and lesions of oral leukoplakia and squamous cell carcinoma. (9526735)
1998
40
The human protein p19ARF is not detected in hemopoietic human cell lines that abundantly express the alternative beta transcript of the p16INK4a/MTS1 gene. (9395243)
1997
41
Fatty acids and colon cancer in experimental models. (9394711)
1997
42
A viral ER-resident glycoprotein inactivates the MHC-encoded peptide transporter. (9175840)
1997
43
Acute intermittent porphyria in a native North American family. Biochemical and molecular analysis. (7785658)
1995
44
Identification as beta-adducin of a protein interacting with rabphilin-3A in the presence of Ca2+ and phosphatidylserine. (7999065)
1994
45
Femoral nerve neurilemmoma in the iliac fossa. (8323240)
1993
46
The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. (2030641)
1991
47
Calmodulin-binding proteins and calcium/calmodulin-regulated enzyme activities associated with brain actomyosin. (2138213)
1990
48
Erythroid 5-aminolevulinate synthase is located on the X chromosome. (2294742)
1990
49
Recurrent acute polyhydramnios. (4904918)
1970
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