MCID: MRG005
MIFTS: 32

Meier-Gorlin Syndrome malady

Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Meier-Gorlin Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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Genetics Home Reference:21 Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.

MalaCards: Meier-Gorlin Syndrome, also known as ear, patella, short stature syndrome, is related to meier-gorlin syndrome 1 and meier-gorlin syndrome 2. An important gene associated with Meier-Gorlin Syndrome is ORC6 (origin recognition complex, subunit 6), and among its related pathways are Cell Cycle Control of Chromosomal Replication and RB in Cancer.

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

Aliases & Classifications for Meier-Gorlin Syndrome

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 62UMLS
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Classifications:



Aliases & Descriptions:

meier-gorlin syndrome 43 20 22 21
ear, patella, short stature syndrome 43 21 62
microtia, absent patellae, micrognathia syndrome 43 21


Related Diseases for Meier-Gorlin Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Meier-Gorlin Syndrome 1 family:

meier-gorlin syndrome Meier-Gorlin Syndrome 2
Meier-Gorlin Syndrome 5 Meier-Gorlin Syndrome 4
Meier-Gorlin Syndrome 3

Diseases related to Meier-Gorlin Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1meier-gorlin syndrome 131.1ORC1
2meier-gorlin syndrome 210.6
3meier-gorlin syndrome 510.6
4meier-gorlin syndrome 410.6
5meier-gorlin syndrome 310.6
6short stature10.5
7dwarfism10.4
8primary autosomal recessive microcephaly and microcephalic dwarfism multi-gene panels10.3
9wolf-hirschhorn syndrome10.3

Graphical network of diseases related to Meier-Gorlin Syndrome:



Diseases related to meier-gorlin syndrome

Symptoms for Meier-Gorlin Syndrome

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Drugs & Therapeutics for Meier-Gorlin Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Meier-Gorlin Syndrome

Search NIH Clinical Center 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

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Animal Models for Meier-Gorlin Syndrome or affiliated genes

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Publications for Meier-Gorlin Syndrome

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52PubMed
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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

Variations for Meier-Gorlin Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Meier-Gorlin Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ORC1NM_004153.3(ORC1): c.380A> G (p.Glu127Gly)single nucleotide variantPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
2ORC1NM_004153.3(ORC1): c.266T> C (p.Phe89Ser)single nucleotide variantPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
3ORC1NM_004153.3(ORC1): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
4ORC1NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln)single nucleotide variantPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
5ORC1NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)single nucleotide variantPathogenicrs201253919GRCh37Chr 1, 52849109: 52849109

Expression for genes affiliated with Meier-Gorlin Syndrome

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2BioGPS, 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

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50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 5Cell Signaling Technology, 55Reactome, 30KEGG, 12EMD Millipore
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Pathways related to Meier-Gorlin Syndrome according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CDT1, CDC6
29.6CDT1, ORC1
39.5CDC6, ORC1
49.5ORC1, CDC6
5
Show member pathways
9.2CDC6, BMP5
6
Show member pathways
8.8ORC6, ORC1, CDC6, CDT1
7
Show member pathways
8.7CDC6, ORC1, ORC4, ORC6
8
Show member pathways
Cell cycle38
8.7ORC6, ORC4, ORC1, CDC6
9
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.4ORC6, ORC4, ORC1, CDC6, CDT1
108.4ORC6, ORC4, ORC1, CDC6, CDT1
11
Show member pathways
8.4ORC6, ORC4, ORC1, CDC6, CDT1
12
Show member pathways
8.4CDT1, CDC6, ORC1, ORC4, ORC6
13
Show member pathways
Cell cycle Start of DNA replication in early S phase60
DNA Replication38
8.4CDT1, CDC6, ORC1, ORC4, ORC6

Compounds for genes affiliated with Meier-Gorlin Syndrome

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GO Terms for genes affiliated with Meier-Gorlin Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1origin recognition complexGO:0008089.2ORC1, ORC4, ORC6
2nuclear origin of replication recognition complexGO:0056649.1ORC1, ORC4, ORC6
3nucleoplasmGO:0056548.1ORC6, ORC4, ORC1, CDC6, CDT1
4nucleusGO:0056347.6CDT1, CDC6, LMX1B, ORC1, ORC4, SHOX

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:0000769.6CDT1, CDC6
2DNA replication initiationGO:0062709.2ORC1, ORC4
3regulation of transcription involved in G1/S transition of mitotic cell cycleGO:0000839.2CDC6, CDT1, ORC1
4skeletal system developmentGO:0015019.0SHOX, BMP5
5DNA replicationGO:0062608.5CDT1, ORC1, CDC6, ORC4, ORC6
6G1/S transition of mitotic cell cycleGO:0000828.5ORC1, ORC4, CDC6, CDT1, ORC6
7mitotic cell cycleGO:0002788.4ORC6, ORC4, CDC6, CDT1, ORC1

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

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171118.8ORC4, ORC1, CDC6
2protein bindingGO:0055157.2SHOX, ORC6, ORC4, ORC1, LMX1B, CDC6

Products for genes affiliated with Meier-Gorlin Syndrome

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Sources for Meier-Gorlin Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet