MCID: MRG005
MIFTS: 28

Meier-Gorlin Syndrome malady

Ear category

Summaries for Meier-Gorlin Syndrome

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Meier-gorlin syndrome is a condition that affects many parts of the body. this disorder is characterized by small ears, absent patellae (kneecaps), and short stature. there are several types of meier-gorlin syndrome, each classified by the specific genes affected. this condition has an autosomal recessive pattern of inheritance. last updated: 5/14/2012

MalaCards: Meier-Gorlin Syndrome, also known as ear, patella, short stature syndrome, is related to short stature and dwarfism. An important gene associated with Meier-Gorlin Syndrome is ORC6 (origin recognition complex, subunit 6), and among its related pathways are Cell cycle Role of APC in cell cycle regulation and E2F transcription factor network.

Aliases & Classifications for Meier-Gorlin Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Ear


Aliases & Descriptions:

meier-gorlin syndrome 43 20 22
ear, patella, short stature syndrome 43 61
microtia, absent patellae, micrognathia syndrome 43


Related Diseases for Meier-Gorlin Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Meier-Gorlin Syndrome:



Diseases related to meier-gorlin syndrome

Clinical Features for Meier-Gorlin Syndrome

Drugs & Therapeutics for Meier-Gorlin Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Meier-Gorlin Syndrome

Genetic Tests for Meier-Gorlin Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Meier-Gorlin Syndrome:

id Genetic test Affiliating Genes
1 Meier-gorlin Syndrome20 22

Anatomical Context for Meier-Gorlin Syndrome

Animal Models for Meier-Gorlin Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Meier-Gorlin Syndrome

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51PubMed
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Articles related to Meier-Gorlin Syndrome:

(show all 19)
idTitleAuthorsYear
1
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. (23706772)
2013
2
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. (23516378)
2013
3
A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. (24137536)
2013
4
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. (23023959)
2012
5
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. (22855792)
2012
6
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. (22398447)
2012
7
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. (22333897)
2012
8
Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome. (21895639)
2011
9
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. (21358631)
2011
10
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. (21358633)
2011
11
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. (21358632)
2011
12
Total knee arthroplasty in Meier-Gorlin syndrome. (15483813)
2004
13
Another adult with Meier-Gorlin syndrome--insights into the natural history. (14564153)
2003
14
Meier-Gorlin syndrome. (11992493)
2002
15
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. (11807867)
2002
16
Meier-Gorlin syndrome: report of eight additional cases and review. (11477602)
2001
17
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. (10213048)
1999
18
Meier-Gorlin syndrome: the adult phenotype. (9690002)
1998
19
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). (7981855)
1994

Genetic Variations for Meier-Gorlin Syndrome

Expression for genes affiliated with Meier-Gorlin Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Meier-Gorlin Syndrome

Search GEO for disease gene expression data for Meier-Gorlin Syndrome.

Pathways for genes affiliated with Meier-Gorlin Syndrome

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 54Reactome, 4Cell Signaling Technology, 30KEGG
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Pathways related to Meier-Gorlin Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6ORC1, CDC6
29.6ORC1, CDC6
39.6CDC6, CDT1
4
Cell cycle Cell cycle (generic schema)
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9.6CDT1, CDC6
5
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8.9CDC6, CDT1, ORC6, ORC1
6
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8.8CDC6, ORC4, ORC6, ORC1
7
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8.8CDC6, ORC4, ORC6, ORC1
8
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8.4CDC6, ORC4, ORC6, ORC1, CDT1
9
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8.4ORC6, ORC4, CDC6, CDT1, ORC1
10
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8.4CDT1, ORC1, ORC6, ORC4, CDC6
118.4ORC1, CDC6, ORC4, ORC6, CDT1
12
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8.4CDC6, ORC6, ORC4, CDT1, ORC1
13
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8.4ORC1, ORC6, ORC4, CDC6, CDT1
14
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8.4ORC1, CDT1, CDC6, ORC4, ORC6
15
Hide members
8.4ORC1, ORC4, CDC6, CDT1, ORC6

Compounds for genes affiliated with Meier-Gorlin Syndrome

GO Terms for genes affiliated with Meier-Gorlin Syndrome

Sources:
16Gene Ontology
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Cellular components related to Meier-Gorlin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:0008089.2ORC4, ORC6, ORC1
2nuclear origin of replication recognition complexGO:0056649.1ORC6, ORC4, ORC1
3nucleoplasmGO:0056548.1ORC4, CDT1, CDC6, ORC1, ORC6
4nucleusGO:0056347.3LMX1B, CDT1, SHOX, CDC6, ORC4, ORC1

Biological processes related to Meier-Gorlin Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:0000769.5CDT1, CDC6
2skeletal system developmentGO:0015019.3BMP5, SHOX
3regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.3ORC1, CDC6, CDT1
4DNA replication initiationGO:0062709.3ORC4, ORC1
5DNA replicationGO:0062608.5CDT1, ORC4, CDC6, ORC6, ORC1
6G1/S transition of mitotic cell cycleGO:0000828.5ORC4, CDC6, ORC1, CDT1, ORC6
7mitotic cell cycleGO:0002788.4CDT1, CDC6, ORC6, ORC1, ORC4

Molecular functions related to Meier-Gorlin Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171118.8ORC1, ORC4, CDC6
2protein bindingGO:0055156.9ORC1, ORC6, ORC4, SHOX, CDC6, CDT1

Products for genes affiliated with Meier-Gorlin Syndrome

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Sources for Meier-Gorlin Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet