MCID: MRG005
MIFTS: 24

Meier-Gorlin Syndrome malady

Ear diseases category

Summaries for Meier-Gorlin Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 32MalaCards
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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 dwarfism and meier-gorlin syndrome 1. An important gene associated with Meier-Gorlin Syndrome is ORC6 (origin recognition complex, subunit 6), and among its related pathways are E2F transcription factor network and Cell cycle Role of APC in cell cycle regulation.

NIH Rare Diseases:42 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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42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS
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Classifications:

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


Aliases & Descriptions:

meier-gorlin syndrome 42 20 22 21
ear, patella, short stature syndrome 42 21 60
microtia, absent patellae, micrognathia syndrome 42 21


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

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Drugs & Therapeutics for Meier-Gorlin Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Genetic Variations for Meier-Gorlin Syndrome

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Expression for genes affiliated with Meier-Gorlin Syndrome

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

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Pathways for genes affiliated with Meier-Gorlin Syndrome

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Sources:
37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 53Reactome, 4Cell Signaling Technology, 29KEGG
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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
19.6CDC6, ORC1
29.6CDC6, ORC1
39.6CDC6, CDT1
4
Cell cycle Cell cycle (generic schema)
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9.6CDT1, CDC6
5
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8.9CDT1, CDC6, 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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8.4CDT1, CDC6, ORC4, ORC6, ORC1
9
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8.4CDT1, CDC6, ORC4, ORC6, ORC1
10
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8.4ORC1, ORC6, ORC4, CDC6, CDT1
11
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8.4ORC1, ORC6, ORC4, CDC6, CDT1
128.4ORC1, ORC6, ORC4, CDC6, CDT1
13
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8.4ORC1, ORC6, ORC4, CDC6, CDT1
14
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8.4ORC1, ORC6, ORC4, CDC6, CDT1
15
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8.4ORC1, ORC6, ORC4, CDC6, CDT1

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

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1DNA replication checkpointGO:0000769.5CDC6, CDT1
2skeletal system developmentGO:0015019.3SHOX, BMP5
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, CDC6, ORC4, ORC6, ORC1
6G1/S transition of mitotic cell cycleGO:0000828.5ORC1, ORC6, ORC4, CDC6, CDT1
7mitotic cell cycleGO:0002788.4CDT1, CDC6, ORC4, ORC6, ORC1

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

idNameGO IDScoreTop Affiliating Genes
1nucleoside-triphosphatase activityGO:0171118.8CDC6, ORC4, ORC1
2protein bindingGO:0055156.9ORC6, ORC4, SHOX, CDC6, CDT1, LMX1B

Products for genes affiliated with Meier-Gorlin Syndrome

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Sources for Meier-Gorlin Syndrome

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet