MGORS1
MCID: MRG008
MIFTS: 45

Meier-Gorlin Syndrome 1 (MGORS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases, Ear diseases

Aliases & Classifications for Meier-Gorlin Syndrome 1

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 52 24 70 27 12
Meier-Gorlin Syndrome 11 48 24 25 54 27 39 13
Ear, Patella, Short Stature Syndrome 48 24 25 68
Microtia, Absent Patellae, Micrognathia Syndrome 48 25
Ear-Patella-Short Stature Syndrome 11 54
 
Microtia Absent Patellae Micrognathia Syndrome 70
Ear Patella Short Stature Syndrome 70
Mgors1 70
Eps 70

Characteristics:

Orphanet epidemiological data:

54
meier-gorlin syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal

HPO:

64
meier-gorlin syndrome 1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 224690
Disease Ontology11 DOID:0060306
Orphanet54 ORPHA2554
SNOMED-CT62 703508009
UMLS via Orphanet69 C1868684
MESH via Orphanet40 C538012
ICD10 via Orphanet31 Q87.1
MedGen37 C1868684

Summaries for Meier-Gorlin Syndrome 1

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OMIM:52 The Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal... (224690) more...

MalaCards based summary: Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to meier-gorlin syndrome 3 and meier-gorlin syndrome 2, and has symptoms including joint laxity, joint laxity and cryptorchidism. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways are Cell cycle_Role of APC in cell cycle regulation and Retinoblastoma (RB) in Cancer. Affiliated tissues include bone, skin and breast, and related mouse phenotypes are Downregulation of Wnt pathway after Wnt3A stimulation and Decreased hepcidin::fluc mRNA expression.

Disease Ontology:11 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.

Genetics Home Reference:25 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.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 Meier-Gorlin syndrome 1: A syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal.

Related Diseases for Meier-Gorlin Syndrome 1

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Graphical network of diseases related to Meier-Gorlin Syndrome 1:



Diseases related to meier-gorlin syndrome 1

Symptoms & Phenotypes for Meier-Gorlin Syndrome 1

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Symptoms by clinical synopsis from OMIM:

224690

Clinical features from OMIM:

224690

Human phenotypes related to Meier-Gorlin Syndrome 1:

 64 (show all 60)
id Description HPO Frequency HPO Source Accession
1 cryptorchidism64 HP:0000028
2 shawl scrotum64 HP:0000049
3 micropenis64 HP:0000054
4 hypoplastic labia majora64 HP:0000059
5 hypoplastic labia minora64 HP:0000064
6 narrow mouth64 HP:0000160
7 cleft palate64 HP:0000175
8 thick lower lip vermilion64 HP:0000179
9 high palate64 HP:0000218
10 small anterior fontanelle64 HP:0000237
11 microcephaly64 HP:0000252
12 hypoplasia of the maxilla64 HP:0000327
13 micrognathia64 HP:0000347
14 hearing impairment64 HP:0000365
15 low-set ears64 HP:0000369
16 incomplete partition of the cochlea type ii64 HP:0000376
17 atresia of the external auditory canal64 HP:0000413
18 strabismus64 HP:0000486
19 long eyelashes64 HP:0000527
20 blepharophimosis64 HP:0000581
21 microdontia64 HP:0000691
22 pectus carinatum64 HP:0000768
23 short ribs64 HP:0000773
24 thin ribs64 HP:0000883
25 lateral clavicle hook64 HP:0000895
26 flat glenoid fossa64 HP:0000911
27 thin skin64 HP:0000963
28 intellectual disability64 HP:0001249
29 joint laxity64 HP:0001388
30 failure to thrive64 HP:0001508
31 intrauterine growth retardation64 HP:0001511
32 small for gestational age64 HP:0001518
33 breech presentation64 HP:0001623
34 talipes equinovarus64 HP:0001762
35 hyperconvex nail64 HP:0001795
36 frontal bossing64 HP:0002007
37 gastroesophageal reflux64 HP:0002020
38 respiratory distress64 HP:0002098
39 abnormality of pelvic girdle bone morphology64 HP:0002644
40 delayed skeletal maturation64 HP:0002750
41 genu valgum64 HP:0002857
42 hemivertebrae64 HP:0002937
43 genu varum64 HP:0002970
44 elbow dislocation64 HP:0003042
45 slender long bone64 HP:0003100
46 breast hypoplasia64 HP:0003187
47 birth length less than 3rd percentile64 HP:0003561
48 clinodactyly of the 5th finger64 HP:0004209
49 short palm64 HP:0004279
50 aplasia/hypoplasia of the patella64 HP:0006498
51 absent glenoid fossa64 HP:0006591
52 absent sternal ossification64 HP:0006628
53 microtia64 HP:0008551
54 clitoral hypertrophy64 HP:0008665
55 feeding difficulties in infancy64 HP:0008872
56 joint contracture of the hand64 HP:0009473
57 cutaneous finger syndactyly64 HP:0010554
58 camptodactyly64 HP:0012385
59 short palpebral fissure64 HP:0012745
60 small hand64 HP:0200055

UMLS symptoms related to Meier-Gorlin Syndrome 1:


joint laxity

GenomeRNAi Phenotypes related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00057-A-210.1CDC45, CDC6, CDT1, CEP152
2GR00253-A8.6ASPH, ATR, CDC45, CDC6, CDT1, CEP63
3GR00250-A-16.0ATR, CDC45, CDC6, CDT1, GMNN, MCM2

MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.2ATR, BMP5, CDC45, CEP152, GMNN, LMX1B

Drugs & Therapeutics for Meier-Gorlin Syndrome 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Meier-Gorlin Syndrome 1


Cochrane evidence based reviews: meier-gorlin syndrome

Genetic Tests for Meier-Gorlin Syndrome 1

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Genetic tests related to Meier-Gorlin Syndrome 1:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome27 24
2 Meier-Gorlin Syndrome 127 24 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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MalaCards organs/tissues related to Meier-Gorlin Syndrome 1:

36
Bone, Skin, Breast

Publications for Meier-Gorlin Syndrome 1

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Variations for Meier-Gorlin Syndrome 1

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UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 1:

70
id Symbol AA change Variation ID SNP ID
1ORC1p.Phe89SerVAR_065481rs387906827
2ORC1p.Arg105GlnVAR_065482rs143141689
3ORC1p.Glu127GlyVAR_065483rs387906826
4ORC1p.Arg666TrpVAR_065484rs201253919
5ORC1p.Arg720GlnVAR_065485rs387906828

Clinvar genetic disease variations for Meier-Gorlin Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GMNNNM_ 015895.4(GMNN): c.16A> T (p.Lys6Ter)SNVPathogenicrs864309486GRCh37Chr 6, 24777490: 24777490
2GMNNNM_ 015895.4(GMNN): c.35_ 38delTCAA (p.Ile12Lysfs)deletionPathogenicrs864309487GRCh37Chr 6, 24777509: 24777512
3GMNNNM_ 015895.4(GMNN): c.50A> G (p.Lys17Arg)SNVPathogenic/ Likely pathogenicrs864309488GRCh37Chr 6, 24777524: 24777524
4ORC1NM_ 004153.3(ORC1): c.380A> G (p.Glu127Gly)SNVPathogenicrs387906826GRCh37Chr 1, 52863379: 52863379
5ORC1NM_ 004153.3(ORC1): c.266T> C (p.Phe89Ser)SNVPathogenicrs387906827GRCh37Chr 1, 52863493: 52863493
6ORC1NM_ 004153.3(ORC1): c.314G> A (p.Arg105Gln)SNVPathogenic/ Likely pathogenicrs143141689GRCh37Chr 1, 52863445: 52863445
7ORC1NM_ 004153.3(ORC1): c.2159G> A (p.Arg720Gln)SNVPathogenicrs387906828GRCh37Chr 1, 52841246: 52841246
8ORC1ORC1, 2-BP DEL/1-BP INS, NT2000indelPathogenic
9ORC1ORC1, IVS9, G-A, -2SNVPathogenic
10ORC1NM_ 004153.3(ORC1): c.1996C> T (p.Arg666Trp)SNVPathogenicrs201253919GRCh37Chr 1, 52849109: 52849109

Expression for genes affiliated with Meier-Gorlin Syndrome 1

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Search GEO for disease gene expression data for Meier-Gorlin Syndrome 1.

Pathways for genes affiliated with Meier-Gorlin Syndrome 1

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GO Terms for genes affiliated with Meier-Gorlin Syndrome 1

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Cellular components related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear origin of replication recognition complexGO:000566410.1MCM2, ORC1, ORC4, ORC6
2centrioleGO:000581410.0CEP152, CEP63, PCNT
3nuclear chromosome, telomeric regionGO:00007849.9ATR, MCM2, ORC1, ORC4
4origin recognition complexGO:00008089.8ORC1, ORC4, ORC6
5centrosomeGO:00058139.7CDC45, CEP152, CEP63, PCNT
6nucleoplasmGO:00056547.6ATR, ATRIP, CDC45, CDC6, CDT1, CEP152
7nucleusGO:00056346.4ATR, ATRIP, CDC45, CDC6, CDT1, GMNN

Biological processes related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1DNA replication preinitiation complex assemblyGO:007116310.6CDT1, GMNN
2centriole replicationGO:000709910.5CEP152, CEP63
3de novo centriole assembly involved in multi-ciliated epithelial cell differentiationGO:009853510.5CEP152, CEP63
4positive regulation of chromatin bindingGO:003556310.4CDT1, GMNN
5DNA replication checkpointGO:000007610.3CDC45, CDC6, CDT1
6positive regulation of DNA-dependent DNA replicationGO:200010510.2BMP5, CDT1
7DNA damage checkpointGO:000007710.0ATR, ATRIP, CEP63
8negative regulation of DNA replicationGO:000815610.0ATR, CDC6, GMNN
9ciliary basal body dockingGO:00977119.9CEP152, CEP63, PCNT
10G2/M transition of mitotic cell cycleGO:00000869.7CEP152, CEP63, PCNT
11regulation of transcription involved in G1/S transition of mitotic cell cycleGO:00000839.5CDC45, CDC6, CDT1, ORC1
12DNA replication initiationGO:00062709.3CDC45, CDC6, MCM2, ORC1, ORC4, ORC6
13G1/S transition of mitotic cell cycleGO:00000829.0CDC45, CDC6, CDT1, MCM2, ORC1, ORC4
14cell cycleGO:00070498.8ATR, CDC45, CDC6, CDT1, CEP63, GMNN
15DNA replicationGO:00062608.3ATR, ATRIP, CDC45, CDC6, CDT1, MCM2

Molecular functions related to Meier-Gorlin Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:000368210.3CDC45, CDT1, GMNN, ORC1
2DNA replication origin bindingGO:000368810.0CDC45, MCM2, ORC4, ORC6
3nucleotide bindingGO:00001669.6ATR, CDC6, MCM2, ORC1, ORC4
4DNA bindingGO:00036778.1ATR, CDT1, KAT6B, LMX1B, MCM2, ORC1
5protein bindingGO:00055154.4ASPH, ATR, ATRIP, CDC45, CDC6, CDT1

Sources for Meier-Gorlin Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet