MCID: MCR103
MIFTS: 44

Microtia malady

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

Aliases & Classifications for Microtia

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Sources:
20GeneTests, 43Novoseek, 47Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Microtia, Aliases & Descriptions:

Name: Microtia 20 43 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
microtia:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Orphanet47 83463
MESH via Orphanet34 C537772
ICD10 via Orphanet26 Q17.2
ICD1025 Q17.2

Summaries for Microtia

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Wikipedia:63 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 hemifacial microsomia. 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.

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 149)
idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 131.0ORC1
2hemifacial microsomia31.0TCOF1
3treacher collins syndrome 130.1TCOF1, EFTUD2
4choanal atresia29.9EFTUD2, TCOF1
5deafness, congenital with inner ear agenesis, microtia, and microdontia10.6
6microtia-anotia10.5
7microphthalmia microtia fetal akinesia10.4
8microtia, hearing impairment, and cleft palate10.4
9hypertelorism, microtia, facial clefting syndrome10.4
10anotia10.4
11mastocytosis cutaneous with short stature conductive hearing loss and microtia10.3
12microtia with nasolacrimal duct imperforation and eye coloboma10.3
13gupta patton syndrome10.3
14isotretinoin embryopathy like syndrome10.2
15dysostosis10.2
16cholesteatoma10.1
17bilateral microtia - deafness - cleft palate10.1
18cervical intraepithelial neoplasia10.1XRCC1, CDC6
19peters anomaly10.0
20townes-brocks syndrome10.0
21mandibulofacial dysostosis, guion-almeida type10.0
22microcephaly10.0
23situs inversus10.0
24ablepharon macrostomia syndrome10.0
25coxoauricular syndrome10.0
26cryptomicrotia brachydactyly syndrome10.0
27johnson neuroectodermal syndrome10.0
28mastocytosis10.0
29microsomia hemifacial radial defects10.0
30laryngeal carcinoma10.0ERCC2, XRCC1
31bladder cancer, somatic9.9XRCC1, ERCC2, FGF3
32chromosome 1p36 deletion syndrome9.9
33restrictive dermopathy, lethal9.9
34cousin syndrome9.9
35gaucher disease, perinatal lethal9.9
36acrofacial dysostosis 1, nager type9.9
37chromosome 1q41-q42 deletion syndrome9.9
38visceral myopathy9.9
39microcephalic osteodysplastic primordial dwarfism, type i9.9
40meier-gorlin syndrome 29.9
41short stature, onychodysplasia, facial dysmorphism, and hypotrichosis9.9
42chanarin-dorfman syndrome9.9
43ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 39.9
44van maldergem syndrome 29.9
45hennekam lymphangiectasia-lymphedema syndrome 29.9
46aspartylglucosaminuria9.9
47chromosome 4q32.1-q32.2 triplication syndrome9.9
48trichohepatoenteric syndrome 19.9
49branchiooculofacial syndrome9.9
50methylmalonic aciduria and homocystinuria, cblf type9.9

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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Drug clinical trials:

Search ClinicalTrials for Microtia

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 Microtia20

Anatomical Context for Microtia

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MalaCards organs/tissues related to Microtia:

31
Bone, Skin, Testes, Heart, Kidney, Salivary gland, Tonsil

Animal Models for Microtia or affiliated genes

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Publications for Microtia

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Articles related to Microtia:

(show top 50)    (show all 358)
idTitleAuthorsYear
1
Chondrogenesis of Human Adipose-Derived Stem Cells by In Vivo Co-graft with Auricular Chondrocytes from Microtia. (25861768)
2015
2
Microtia Reconstruction and Postsurgical Grisel's Syndrome: A Rare Cause of Torticollis in a Child. (25289369)
2014
3
Microtia reconstruction. (25158724)
2014
4
Phenotypic characterization and risk factors for microtia in East China, a case-control study. (25281337)
2014
5
HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (23775976)
2013
6
Unusual association of bilateral persistent stapedial arteries and microtia with bilateral ossicular anomalies resulting in conductive hearing loss. (23446325)
2013
7
A new syndrome of microtia with unilateral renal agenesis and short stature. (22711661)
2012
8
The role of HRCT and three-dimensional VR CT findings in patients of congenital atresia combined with microtia. (23021463)
2012
9
Mutational analysis of PACT gene in Chinese patients with microtia. (21595004)
2011
10
Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. (20542577)
2010
11
An update on auricular reconstruction: three major auricular malformations of microtia, prominent ear and cryptotia. (20856117)
2010
12
Clinical analysis based on 208 patients with microtia (especially reviewed oculo-auriculo-vertebral spectrum, hearing test, CT scan). (21428189)
2010
13
Auricular reconstruction for microtia: personal 6-year experience based on 350 microtia ear reconstructions in China. (19319047)
2009
14
Generating ears from cultured autologous auricular chondrocytes by using two-stage implantation in treatment of microtia. (19730300)
2009
15
Apparent third patient with cutaneous mastocytosis, microcephaly, conductive hearing loss, and microtia. (19764024)
2009
16
Lifting the reconstructed ear using remnant ear cartilage in lobule-type microtia. (18662899)
2009
17
Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings. (19050404)
2009
18
Ten-year experience in microtia reconstruction using tissue expander and autogenous cartilage. (18572254)
2008
19
Soft-tissue reconstruction for atypical microtia malformations and trauma. (18711064)
2008
20
Salvage of cartilage framework exposure in microtia reconstruction using a mastoid fascial flap. (19095209)
2008
21
A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)
2008
22
Reconstruction of microtia with laser hair removal before transplantation of costal cartilage. (18479988)
2008
23
Modification of the second stage of auricular elevation in Nagata's technique for treating microtia. (17486515)
2007
24
Atlanto-axial rotatory fixation following ear surgery for microtia. (16462375)
2006
25
Combined microtia and aural atresia: issues in cochlear implantation. (15630363)
2005
26
A new syndrome within the oculo-auriculo-vertebral spectrum: microtia, atresia of the external auditory canal, vertebral anomaly, and complex cardiac defects. (15602090)
2005
27
Descriptive epidemiology of anotia and microtia, Hawaii, 1986-2002. (16359491)
2005
28
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? (15800906)
2005
29
Vascular supply of the subcutaneous pedicle of Nagata's method in microtia reconstruction. (15544777)
2004
30
Aural atresia and microtia in Kabuki syndrome. (12687675)
2003
31
Microtia reconstruction: an update. (14515077)
2003
32
Auricular reconstruction for microtia: Part II. Surgical techniques. (12087261)
2002
33
Microtia associated with the Kabuki (Niikawa-Kuroki) syndrome. (11700460)
2001
34
Computer-aided surgery and tissue expansion in auricular reconstruction for microtia. (11584500)
2001
35
Resonance imaging of the eustachian tube cartilage in microtia. (9482220)
1998
36
Combined aesthetic and functional treatment of microtia. (9204175)
1997
37
Residual problems in chest donor sites after microtia reconstruction: a long-term study. (7732143)
1995
38
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
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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Search GEO for disease gene expression data for Microtia.

Pathways for genes affiliated with Microtia

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Pathways related to Microtia according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CDT1, CDC6
29.4ORC1, XRCC1, CDC6
3
Show member pathways
Cell cycle36
9.3CDC6, ORC6, ORC4, ORC1
4
Show member pathways
9.3ORC6, ORC4, ORC1, CDC6
5
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
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 phase58
DNA Replication36
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
11
Show member pathways
8.5CDC6, CDT1, XRCC1, ORC6, ERCC2, ORC1

Compounds for genes affiliated with Microtia

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Microtia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1rrna439.8RPS19, TCOF1
2platinum compounds499.7ERCC2, XRCC1
3cotinine43 2410.6ERCC2, XRCC1
4platinum43 4910.6XRCC1, ERCC2
5fluorouracil49 1210.5ERCC2, XRCC1
6mspi439.3ERCC2, XRCC1
7polynucleotide439.2XRCC4, XRCC1

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:00008089.6ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:00056649.5ORC6, ORC4, ORC1
3nucleolusGO:00057307.6ORC1, EFTUD2, TCOF1, XRCC4, RPS19, CDC6
4nucleoplasmGO:00056546.8CDC6, ERCC2, XRCC4, XRCC1, EFTUD2, ORC1
5nucleusGO:00056345.4TCOF1, CDT1, CDC6, ERCC2, SIX2, GSC

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:000007610.1CDT1, CDC6
2semicircular canal morphogenesisGO:004875210.0FGF3, EYA1
3outer ear morphogenesisGO:00424739.9EYA1, PRKRA
4regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.8ORC1, CDC6, CDT1
5DNA replication initiationGO:00062709.8ORC4, ORC1
6anatomical structure morphogenesisGO:00096539.7FGF3, SIX2, EYA1
7embryonic skeletal system morphogenesisGO:00487049.5GSC, EYA1
8middle ear morphogenesisGO:00424749.4SIX2, HOXA2, EYA1, PRKRA, GSC
9DNA replicationGO:00062609.3ORC6, ORC1, CDC6, CDT1, ORC4
10G1/S transition of mitotic cell cycleGO:00000829.3ORC4, ORC6, CDT1, CDC6, ORC1
11mitotic cell cycleGO:00002789.3CDT1, CDC6, ORC6, ORC4, ORC1
12positive regulation of transcription from RNA polymerase II promoterGO:00459448.9BMP5, HOXA2, SIX2, ERCC2, EYA1
13gene expressionGO:00104678.8EFTUD2, PRKRA, RPS19, ERCC2

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

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:00171119.6CDC6, ORC1, ORC4
2protein bindingGO:00055154.9FGF3, ORC6, ORC4, ORC1, EYA1, EFTUD2

Products for genes affiliated with Microtia

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  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Microtia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet