MCID: MRN004
MIFTS: 18

Morning Glory Disc Anomaly malady

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Summaries for Morning Glory Disc Anomaly

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Wikipedia:65 The morning glory disc anomaly (MGDA) is a congenital deformity resulting from failure of the optic... more...

MalaCards based summary: Morning Glory Disc Anomaly is related to coloboma and retinitis, and has symptoms including An important gene associated with Morning Glory Disc Anomaly is PAX6 (paired box 6). Affiliated tissues include eye and pituitary.

Description from OMIM:46 120430

Aliases & Classifications for Morning Glory Disc Anomaly

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Morning Glory Disc Anomaly, Aliases & Descriptions:

Name: Morning Glory Disc Anomaly 46


Related Diseases for Morning Glory Disc Anomaly

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Diseases related to Morning Glory Disc Anomaly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1coloboma10.7
2retinitis10.6
3aniridia10.4
4neurofibromatosis10.4
5optic nerve glioma10.4

Graphical network of diseases related to Morning Glory Disc Anomaly:



Diseases related to morning glory disc anomaly

Symptoms for Morning Glory Disc Anomaly

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Symptoms by clinical synopsis from OMIM:

120430

Clinical features from OMIM:

120430

HPO human phenotypes related to Morning Glory Disc Anomaly:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 retinal detachment HP:0000541
3 optic nerve coloboma HP:0000588

Drugs & Therapeutics for Morning Glory Disc Anomaly

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Drug clinical trials:

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Search NIH Clinical Center for Morning Glory Disc Anomaly

Genetic Tests for Morning Glory Disc Anomaly

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Anatomical Context for Morning Glory Disc Anomaly

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MalaCards organs/tissues related to Morning Glory Disc Anomaly:

32
Eye, Pituitary

Animal Models for Morning Glory Disc Anomaly or affiliated genes

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Publications for Morning Glory Disc Anomaly

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Articles related to Morning Glory Disc Anomaly:

(show all 31)
idTitleAuthorsYear
1
Morning glory disc anomaly with Chiari type I malformation. (24802674)
2014
2
Morning glory disc anomaly: characteristic MR imaging findings. (23660287)
2013
3
Contractile peripapillary staphyloma mimicking morning-glory disc anomaly. (22531311)
2012
4
Optic nerve head drusen in an eye with morning glory disc anomaly. (21805072)
2012
5
Morning glory disc anomaly and optic nerve coloboma. (21622684)
2012
6
Morning glory disc anomaly with contractile movements. (22865260)
2012
7
Morning glory disc anomaly with peripheral retinal nonperfusion in 4 consecutive cases. (23044951)
2012
8
Morning glory disc anomaly in association with ipsilateral optic nerve glioma. (22893090)
2012
9
Optic disc contractility in morning glory disc anomaly. (21323306)
2011
10
Mid line craniofacial defects and morning glory disc anomaly with clinical anophthalmos-a distinct clinical entity. (20302414)
2010
11
Update on the morning glory disc anomaly. (18484308)
2008
12
Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects. (18350354)
2008
13
The morning glory disc anomaly. (18546928)
2008
14
Optical coherence tomographic characteristics in morning glory disc anomaly. (17392858)
2007
15
Chiari type capital I, Ukrainian malformation associated with morning glory disc anomaly. (17204923)
2006
16
Reversible carotid artery narrowing in morning glory disc anomaly. (16148627)
2005
17
Morning glory disc anomaly, midline cranial defects and abnormal carotid circulation: an association worth looking for. (15480611)
2005
18
Morning glory disc anomaly: an atypical case. (12598458)
2003
19
Bilateral morning glory disc anomaly. (12831152)
2003
20
Morning glory disc anomaly in neurofibromatosis type 2. (10369605)
1999
21
Capillary haemangiomas in association with morning glory disc anomaly. (9826051)
1998
22
Morning glory disc anomaly and moyamoya vessels. (9488287)
1998
23
Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. (8741108)
1996
24
Retinal arteriovenous communications in the morning glory disc anomaly. (7654274)
1995
25
Morning glory disc anomaly or optic disc coloboma? (8311757)
1994
26
Morning glory disc anomaly or optic disc coloboma? (8311756)
1994
27
Trisomy 4q with morning glory disc anomaly. (2377355)
1990
28
The morning glory disc anomaly: contractile movement, classification, and embryogenesis. (3319466)
1987
29
Morning glory disc anomaly with pulsating peripapillary staphyloma. A case history. (3425268)
1987
30
Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family. (3097598)
1986
31
Persistence of the primary vitreous in association with the morning glory disc anomaly. (6707857)
1984

Variations for Morning Glory Disc Anomaly

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Clinvar genetic disease variations for Morning Glory Disc Anomaly:

6
id Gene Name Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.202C> T (p.Pro68Ser)single nucleotide variantPathogenicrs121907923GRCh37Chr 11, 31823264: 31823264

Expression for genes affiliated with Morning Glory Disc Anomaly

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Expression patterns in normal tissues for genes affiliated with Morning Glory Disc Anomaly

Search GEO for disease gene expression data for Morning Glory Disc Anomaly.

Pathways for genes affiliated with Morning Glory Disc Anomaly

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Compounds for genes affiliated with Morning Glory Disc Anomaly

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GO Terms for genes affiliated with Morning Glory Disc Anomaly

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Products for genes affiliated with Morning Glory Disc Anomaly

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  • Antibodies
  • Proteins
  • Lysates

Sources for Morning Glory Disc Anomaly

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet