Microtia malady

Wikipedia: Microtia is a congenital deformity where the pinna (external ear) is underdeveloped (microtia). A...⁴⁴ more...

MalaCards: Microtia is related to choanal atresia and treacher collins syndrome. An important gene associated with Microtia is MNDEC (Microtia with nasolacrimal duct imperforation and eye coloboma), and among its related pathways are Association of licensing factors with the pre-replicative complex and Cell cycle_Start of DNA replication in early S phase. The compounds cotinine and polynucleotide have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

microtia 16 32

Diseases related to microtia by text searches and GeneDecks gene sharing:

(show all 38)

id	Related Disease	Score	Top Affiliating Genes
1	choanal atresia	27.1	HOXA2, EFTUD2, TCOF1
2	treacher collins syndrome	27.0	TCOF1, EFTUD2, HOXA2
3	meier-gorlin syndrome	25.7	ORC6, ORC1, BMP5, CDT1, CDC6, ORC4
4	cleft palate	24.9	CDT1, ORC1, ORC6, CDC6, HOXA2, RPS19
5	microcephaly	23.9	TCOF1, ORC6, ORC1, ORC4, ERCC2, CDC6
6	coloboma	13.0	MNDEC, TCOF1, FGF3
7	intrauterine and postnatal growth retardation	12.2	CDT1, CDC6, ORC4, ORC1, ORC6
8	urinary bladder cancer	12.1	FGF3, XRCC1, ERCC2
9	early-onset ataxia with oculomotor apraxia and hypoalbuminemia	12.1	XRCC1, XRCC4
10	mutagen sensitivity	12.0	XRCC1, ERCC2
11	oculomotor apraxia	12.0	XRCC1, XRCC4
12	xeroderma pigmentosum, group d	11.8	XRCC1, XRCC4, ERCC2
13	bladder cancer susceptibility	11.8	XRCC1, XRCC4, ERCC2
14	acoustic neuroma	11.8	ERCC2, XRCC4, XRCC1
15	neuroma	11.8	XRCC1, XRCC4, ERCC2
16	dwarfism	11.7	CDT1, CDC6, ERCC2, ORC4, ORC6, ORC1
17	leiomyoma	11.7	XRCC1, ERCC2, ORC4, RPS19
18	xeroderma pigmentosum	11.6	XRCC4, XRCC1, ERCC2
19	oral cancer	11.4	XRCC1, ERCC2, FGF3, XRCC4
20	albinism	11.4	ERCC2, XRCC4, XRCC1
21	short stature	11.3	BMP5, RPS19, CDC6, ORC1, CDT1, ORC4
22	congenital deafness with labyrinthine aplasia, microtia, and microdontia	8.3
23	deafness with labyrinthine aplasia microtia and microdontia (lamm)	7.8
24	gupta patton syndrome	7.4
25	microphthalmia microtia fetal akinesia	7.1
26	hypertelorism, microtia, facial clefting syndrome	6.7
27	microtia eye coloboma and imperforation of the nasolacrimal duct	6.7
28	microtia-anotia	6.7
29	microtia, hearing impairment, and cleft palate	6.7
30	goldenhar syndrome	6.2
31	isotretinoin embryopathy like syndrome	6.2
32	mastocytosis cutaneous with short stature conductive hearing loss and microtia	6.2
33	wisconsin syndrome	5.3
34	anemia	5.3
35	bixler christian gorlin syndrome	5.3
36	diamond-blackfan anemia	5.3
37	dysostosis	5.3
38	samson viljoen syndrome	5.3

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to microtia:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.8	BMP5, GSC, FGF3, HOXA2, TCOF1, PRKRA
2	craniofacial phenotype	MP:0005382	7.9	XRCC4, BMP5, HOXA2, TCOF1, PRKRA, GSC
3	skeleton phenotype	MP:0005390	7.5	BMP5, XRCC4, GSC, FGF3, HOXA2, ERCC2
4	growth/size phenotype	MP:0005378	6.8	GSC, XRCC4, XRCC1, FGF3, HOXA2, ERCC2
5	mortality/aging	MP:0010768	6.1	HOXA2, BMP5, XRCC1, XRCC4, GSC, FGF3

Articles related to microtia:

(show all 13)

id	Title	Authors	Year	Affiliating Genes
1	Mutational analysis of PACT gene in Chinese patients with microtia. (21595004)	Lin L.... Yu D.	2011	PRKRA
2	No association between DNA repair gene (XPD, XRCC1, a nd XRCC4) polymorphisms and nonsyndromic microtia in Turkish patients. (21788800)	Sever T.... Bekerecioglu M.	2011	ERCC2, XRCC4, XRCC1
3	Pedigree and genetic study of a bilateral congenital microtia family. (20195123)	Zhang Q.... Yin W.	2010	GSC
4	Mutational analysis of HOXA2 and SIX2 in a Bronx popu lation with isolated microtia. (20542577)	Monks D.C.... Babcock M.	2010	HOXA2, SIX2
5	A FGF3 mutation associated with differential inner ea r malformation, microtia, and microdontia. (19950373)	Ramsebner R.... Frei K.	2010	FGF3
6	Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). (18701883)	Alsmadi O.... Al-Sayed M.	2009	FGF3
7	Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. (19334086)	Wieczorek D.... Lohmann D.R.	2009	TCOF1
8	Environmental and genetic factors associated with con genital microtia: a case-control study in Jiangsu, China, 2004 to 2007. (19935299)	Zhang Q.G.... Shen H.	2009	BMP5, GSC
9	A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (18394579)	Alasti F.... Van Camp G.	2008	HOXA2
10	Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. (18435799)	Tekin M.... Duman D.	2008	FGF3
11	Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. (17236138)	Tekin M.... Akar N.	2007	FGF3
12	Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. (15770127)	Thiel C.T.... Rauch A.	2005	TCOF1
13	Bilateral microtia and cleft palate in cousins with Diamond-Blackfan anemia. (11424144)	Gripp K.W.... Zackai E.H.	2001	RPS19

Genes related to microtia according to GeneCards:

(show all 18)

id	Symbol	Description	Score	GeneCards Section Context
1	MNDEC	Microtia with nasolacrimal duct imperforation and eye coloboma	11.1	Aliases & Descriptions
2	HOXA2	homeobox A2	11.0	Publications
3	FGF3	fibroblast growth factor 3	11.0	Publications
4	TCOF1	Treacher Collins-Franceschetti syndrome 1	11.0	Publications
5	GSC	goosecoid homeobox	11.0	Publications
6	SIX2	SIX homeobox 2	11.0	Publications
7	ORC6	origin recognition complex, subunit 6	11.0
8	ORC1	origin recognition complex, subunit 1	11.0
9	CDT1	chromatin licensing and DNA replication factor 1	11.0
10	PRKRA	protein kinase, interferon-inducible double stranded RNA dependent activator	11.0	Publications
11	ORC4	origin recognition complex, subunit 4	11.0
12	CDC6	cell division cycle 6 homolog (S. cerevisiae)	11.0
13	RPS19	ribosomal protein S19	11.0	Publications
14	BMP5	bone morphogenetic protein 5	11.0	Publications
15	ERCC2	excision repair cross-complementing rodent repair deficiency, complementation group 2	11.0	Publications
16	XRCC1	X-ray repair complementing defective repair in Chinese hamster cells 1	11.0	Publications
17	XRCC4	X-ray repair complementing defective repair in Chinese hamster cells 4	11.0	Publications
18	EFTUD2	elongation factor Tu GTP binding domain containing 2	-9.1	Disorders

Pathways related to microtia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Association of licensing factors with the pre-replicative complex38	9.3	ORC1, CDT1, CDC6, ORC4
2	Cell cycle_Start of DNA replication in early S phase41	9.0	ORC6, CDT1, CDC6, ORC4, ORC1
3	Cell cycle20	8.9	CDC6, ORC6, ORC1, ORC4
4	Cell cycle Start of DNA replication in early S phase10	8.9	ORC6, ORC1, ORC4, CDT1, CDC6
5	Cell Cycle / Checkpoint Control3	8.5	XRCC1, CDT1, CDC6, ORC6, ORC1
6	DNA Repair Mechanisms36	8.5	ERCC2, XRCC1, XRCC4
7	Meiosis10	8.4	ORC6, ORC1, ORC4, CDC6, XRCC1, CDT1

Compounds related to microtia according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	cotinine32 18	10.3	XRCC1, ERCC2
2	polynucleotide32	8.7	XRCC1, XRCC4

Cellular components related to microtia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	origin recognition complex	GO:000808	9.5	ORC6, ORC1, ORC4
2	nuclear origin of replication recognition complex	GO:005664	9.3	ORC4, ORC1, ORC6
3	nucleoplasm	GO:005654	6.4	XRCC1, XRCC4, CDT1, CDC6, ERCC2, ORC4
4	nucleus	GO:005634	5.7	EFTUD2, XRCC1, XRCC4, CDT1, CDC6, GSC

Biological processes related to microtia according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	DNA-dependent DNA replication initiation	GO:006270	9.8	ORC1, ORC4
2	middle ear morphogenesis	GO:042474	9.7	SIX2, PRKRA, HOXA2, GSC
3	regulation of transcription involved in G1/S phase of mitotic cell cycle	GO:000083	9.5	CDC6, ORC1, CDT1
4	DNA replication checkpoint	GO:000076	9.5	CDT1, CDC6
5	M/G1 transition of mitotic cell cycle	GO:000216	9.1	ORC6, ORC1, ORC4, CDC6, CDT1
6	S phase of mitotic cell cycle	GO:000084	9.1	CDT1, CDC6, ORC4, ORC1, ORC6
7	DNA replication	GO:006260	9.0	ORC6, ORC1, ORC4, CDC6, CDT1
8	mitotic cell cycle	GO:000278	8.8	ORC6, ORC4, CDT1, CDC6, ORC1
9	cell cycle checkpoint	GO:000075	8.8	CDC6, ORC6, ORC1, ORC4, ERCC2

Molecular functions related to microtia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	nucleoside-triphosphatase activity	GO:017111	9.5	CDC6, ORC4, ORC1
2	protein binding	GO:005515	4.9	XRCC1, EFTUD2, PRKRA, ORC6, ORC1, ORC4