MGORS1
MCID: MRG008
MIFTS: 55

Meier-Gorlin Syndrome 1 (MGORS1)

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

Aliases & Classifications for Meier-Gorlin Syndrome 1

MalaCards integrated aliases for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 57 12 72 29 13 6 15
Meier-Gorlin Syndrome 57 12 20 43 58 36 29 6 44 15 39
Ear, Patella, Short Stature Syndrome 57 20 43 70
Microtia, Absent Patellae, Micrognathia Syndrome 57 20 43
Ear-Patella-Short Stature Syndrome 12 58
Mgors1 57 72
Eps 57 72
Microtia Absent Patellae Micrognathia Syndrome 72
Ear, Patella, Short Stature Syndrome; Eps 57
Ear Patella Short Stature Syndrome 72
Meier-Gorlin Syndrome, Type 1 39

Characteristics:

Orphanet epidemiological data:

58
ear-patella-short stature syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
meier-gorlin syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Meier-Gorlin Syndrome 1

MedlinePlus Genetics : 43 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.Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.

MalaCards based summary : Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to isolated growth hormone deficiency, type ia and seckel syndrome. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways/superpathways are Cell cycle and Cell Cycle, Mitotic. Affiliated tissues include testes, bone and breast, and related phenotypes are failure to thrive and delayed skeletal maturation

Disease Ontology : 12 A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation.

GARD : 20 Meier-Gorlin syndrome (MGS) is a very rare inherited condition characterized by very small ears and ear canals, short stature, and absent or very small kneecaps (patellae). Other signs and symptoms can include hearing loss, feeding problems, respiratory tract abnormalities, small chin, and small head size. People with MGS may also have characteristic facial features including a small mouth, full lips and a narrow nose. Females with MGS may have underdeveloped breasts. Most people with this syndrome have normal intelligence. There are many forms of MGS and it can be caused by mutations in any of eight different genes : ORC1, ORC4, ORC6, CDT1, CDC6, CDC45L, MCM5 and GMNN. Most forms of MGS are inherited in an autosomal recessive pattern. The form caused by the GMNN gene is inherited in an autosomal dominant pattern. MGS is diagnosed based on the clinical signs and symptoms. Genetic testing can aid in the diagnosis. Treatment is based on the symptoms. Most people with this syndrome have normal lifespans. The exact prevalence of MGS has not been determined, but is estimated to be less than 1-9/1,000,000.

OMIM® : 57 The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). 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 (Bicknell et al., 2011). (224690) (Updated 20-May-2021)

KEGG : 36 Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome characterized by microtia, patellar aplasia/hypoplasia, and a proportionate short stature. Additional clinical findings include pulmonary emphysema, feeding difficulties, urogenital abnormalities, and mammary hypoplasia. Characteristic facial features, which gradually change with age, are frequently described. Infants typically have a small mouth with full lips and micrognathia, whereas in adults, a high forehead and a more prominent, narrow nose with a broad nasal bridge are distinguishable. The diagnosis of MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. Mutations in genes involved in DNA-replication have been detected in patients with MGS.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Meier-Gorlin Syndrome 1 family:

Meier-Gorlin Syndrome 2 Meier-Gorlin Syndrome 3
Meier-Gorlin Syndrome 4 Meier-Gorlin Syndrome 5
Meier-Gorlin Syndrome 6 Meier-Gorlin Syndrome 7
Meier-Gorlin Syndrome 8

Diseases related to Meier-Gorlin Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 31.2 RNU4ATAC ORC6 ORC4 H2AC18 GMNN CDT1
2 seckel syndrome 30.8 RNU4ATAC ORC6 ORC4 H2AC18 CDT1 CDC6
3 microcephaly 30.5 RNU4ATAC ORC6 ORC4 ORC1 GMNN CDT1
4 meier-gorlin syndrome 4 11.9
5 meier-gorlin syndrome 2 11.9
6 meier-gorlin syndrome 3 11.9
7 meier-gorlin syndrome 5 11.9
8 meier-gorlin syndrome 8 11.9
9 meier-gorlin syndrome 6 11.8
10 meier-gorlin syndrome 7 11.8
11 microtia 10.4
12 kleefstra syndrome 10.3 PHF21A KDM4C H2AC18
13 cryptorchidism, unilateral or bilateral 10.3
14 craniosynostosis 10.3
15 pulmonary emphysema 10.3
16 hyperoxaluria, primary, type i 10.3 KMT5B KDM4C H2AC18
17 weaver syndrome 10.3 PHF21A KDM4C H2AC18
18 hair disease 10.3 RNU4ATAC KDM4C H2AC18
19 kabuki syndrome 1 10.3 PHF21A KDM4C H2AC18
20 eye degenerative disease 10.3 RNU4ATAC KDM4C H2AC18
21 specific developmental disorder 10.3 RNU4ATAC KDM4C H2AC18
22 ventriculomegaly with cystic kidney disease 10.3 PSPH LIFR KLHDC2 CRB2 ATP5MK
23 genitourinary tract anomalies 10.3 ORC6 ORC4 ORC1 GMNN CDT1 CDC6
24 cerebellar disease 10.3 RNU4ATAC KDM4C H2AC18
25 primary hyperoxaluria 10.2 KMT5B KDM4C H2AC18
26 pontocerebellar hypoplasia 10.2 RNU4ATAC KDM4C H2AC18
27 isolated growth hormone deficiency 10.2 RNU4ATAC ORC6 ORC4 H2AC18 GMNN CDT1
28 brain stem cancer 10.2 KDM4C H2AC18
29 branchiootic syndrome 1 10.2
30 autosomal recessive disease 10.2
31 autosomal recessive non-syndromic intellectual disability 10.2
32 hypogonadism 10.2
33 dwarfism 10.2
34 growth hormone deficiency 10.2
35 laryngomalacia 10.1
36 wolf-hirschhorn syndrome 10.1
37 microcephaly-micromelia syndrome 10.1
38 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.1
39 helix syndrome 10.1
40 early infantile epileptic encephalopathy 10.1
41 encephalopathy 10.1
42 spinal disease 10.0 RNU4ATAC KDM4C H2AC18

Graphical network of the top 20 diseases related to Meier-Gorlin Syndrome 1:



Diseases related to Meier-Gorlin Syndrome 1

Symptoms & Phenotypes for Meier-Gorlin Syndrome 1

Human phenotypes related to Meier-Gorlin Syndrome 1:

58 31 (show top 50) (show all 92)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
5 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
6 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
9 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
10 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
11 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
12 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
13 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
14 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
15 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
16 mandibular aplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009939
17 anotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0009892
18 microtia, third degree 58 31 hallmark (90%) Very frequent (99-80%) HP:0011267
19 low-set ears 58 31 frequent (33%) Frequent (79-30%) HP:0000369
20 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
21 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
22 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
23 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
24 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
25 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
26 hypoplastic labia majora 58 31 frequent (33%) Frequent (79-30%) HP:0000059
27 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
28 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
29 patellar aplasia 58 31 frequent (33%) Frequent (79-30%) HP:0006443
30 clitoral hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000060
31 hypoplastic labia minora 58 31 frequent (33%) Frequent (79-30%) HP:0000064
32 clitoral hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008665
33 aplastic clavicle 31 frequent (33%) HP:0006660
34 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
35 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
36 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
37 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
38 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
39 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
40 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
41 elbow dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003042
42 epispadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000039
43 bifid uvula 58 31 occasional (7.5%) Occasional (29-5%) HP:0000193
44 submucous cleft hard palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000176
45 breast aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100783
46 cleft palate 58 31 Occasional (29-5%) HP:0000175
47 frontal bossing 31 HP:0002007
48 high palate 31 HP:0000218
49 pectus carinatum 31 HP:0000768
50 microtia 31 HP:0008551

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
intrauterine growth retardation

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short ribs
slender ribs
hooked clavicles
lack of sternal ossification
more
Growth Height:
short stature
birth length less than 3rd percentile

Skeletal Limbs:
genu valgum
genu varum
elbow dislocation
slender long bones
aplastic or hypoplastic patellae
more
Head And Neck Mouth:
cleft palate
high-arched palate
small mouth
full lips

Head And Neck Ears:
low-set ears
hearing loss
mondini malformation
bilateral microtia
atretic auditory canal

Skeletal Feet:
talipes equinovarus
cutaneous syndactyly (2nd-3rd, 4th-5th)

Skeletal Spine:
hemivertebrae

Skin Nails Hair Hair:
long eyelashes

Skin Nails Hair Skin:
thin skin
prominent vasculature (nose and forehead)

Prenatal Manifestations Delivery:
breech presentation

Head And Neck Teeth:
small teeth

Growth Weight:
birth weight less than 3rd percentile

Respiratory Lung:
emphysema, congenital (in some patients)

Skeletal Pelvis:
blount osteochondritis dissecans
aseptic femoral necrosis
coxa valga/vara

Head And Neck Face:
frontal bossing
micrognathia
maxillary hypoplasia
mandibular hypoplasia

Head And Neck Head:
microcephaly
small anterior fontanel

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems

Head And Neck Eyes:
strabismus
long eyelashes
short palpebral fissures

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
joint laxity
delayed bone age
joint contractures

Genitourinary External Genitalia Male:
micropenis
shawl scrotum

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia majora
hypoplastic labia minora

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

Chest Breasts:
breast hypoplasia

Neurologic Central Nervous System:
mental retardation

Skin Nails Hair Nails:
hyperconvex nails

Respiratory:
respiratory distress (neonate)

Chest External Features:
chest asymmetry

Clinical features from OMIM®:

224690 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.28 CDC45 CDC6 GMNN
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.28 CDC45 CDC6 CDT1 GMNN KLHDC2 ORC1
3 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 9.26 CDC45 CDC6 CDT1 KMT5B

Drugs & Therapeutics for Meier-Gorlin Syndrome 1

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

Cochrane evidence based reviews: meier-gorlin syndrome

Genetic Tests for Meier-Gorlin Syndrome 1

Genetic tests related to Meier-Gorlin Syndrome 1:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 1 29 ORC1
2 Meier-Gorlin Syndrome 29

Anatomical Context for Meier-Gorlin Syndrome 1

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

40
Testes, Bone, Breast, Eye, Brain, Kidney

Publications for Meier-Gorlin Syndrome 1

Articles related to Meier-Gorlin Syndrome 1:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 6 57 61
22333897 2012
2
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 61 57 6
21358631 2011
3
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 6 61 57
21358632 2011
4
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 61 6 57
21358633 2011
5
Another adult with Meier-Gorlin syndrome--insights into the natural history. 61 57 6
14564153 2003
6
Meier-Gorlin syndrome: report of eight additional cases and review. 57 61 6
11477602 2001
7
Clinical identification of a human equivalent to the short ear (se) murine phenotype. 57 6
7710253 1994
8
Malformation syndromes. A selected miscellany. 57 6
819054 1975
9
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 61 6
27374770 2016
10
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 61 6
26637980 2015
11
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association. 61 6
25689043 2015
12
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. 6 61
25691413 2015
13
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. 6 61
23516378 2013
14
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. 6 61
23023959 2012
15
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. 61 6
22855792 2012
16
Human syndromes with congenital patellar anomalies and the underlying gene defects. 57 61
16143015 2005
17
Meier-Gorlin syndrome. 61 6
11992493 2002
18
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. 61 57
11807867 2002
19
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. 61 57
10213048 1999
20
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). 57 61
7981855 1994
21
A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features. 6
17256795 2007
22
Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings. 57
16088921 2005
23
Direct interaction of geminin and Six3 in eye development. 6
14973488 2004
24
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? 57
11182936 2000
25
Microtia and short stature: a new syndrome. 57
1770537 1991
26
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. 57
3344763 1988
27
[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)]. 57
13672525 1959
28
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. 61
33639314 2021
29
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. 61
33338304 2021
30
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. 61
33654309 2021
31
Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein. 61
33037049 2020
32
Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy. 61
32843414 2020
33
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. 61
31784481 2020
34
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. 61
31474763 2020
35
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. 61
30986546 2020
36
Tissue-Specific DNA Replication Defects in Drosophila melanogaster Caused by a Meier-Gorlin Syndrome Mutation in Orc4. 61
31818869 2020
37
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. 61
31407851 2019
38
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors. 61
30696958 2019
39
Meier-Gorlin syndrome: an additional case report in an adult woman. 61
30451704 2019
40
Helicase Subunit Cdc45 Targets the Checkpoint Kinase Rad53 to Both Replication Initiation and Elongation Complexes after Fork Stalling. 61
30595439 2019
41
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome? 61
31274184 2019
42
Cdt1 variants reveal unanticipated aspects of interactions with cyclin/CDK and MCM important for normal genome replication. 61
30281379 2018
43
Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report. 61
29942112 2018
44
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 61
28425089 2017
45
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype. 61
28985365 2017
46
Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. 61
29036220 2017
47
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. 61
28198391 2017
48
[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16]. 61
28186598 2017
49
Structure of the active form of human origin recognition complex and its ATPase motor module. 61
28112645 2017
50
Primordial dwarfism: overview of clinical and genetic aspects. 61
26323792 2016

Variations for Meier-Gorlin Syndrome 1

ClinVar genetic disease variations for Meier-Gorlin Syndrome 1:

6 (show top 50) (show all 210)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC45 NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del Deletion Pathogenic 253105 GRCh37:
GRCh38: 22:19482828-19494326
2 CDC45 NM_001178010.2(CDC45):c.318C>T (p.Val106=) SNV Pathogenic 253098 rs745800041 GRCh37: 22:19470326-19470326
GRCh38: 22:19482803-19482803
3 CDC45 NM_001178010.2(CDC45):c.333C>T (p.Asn111=) SNV Pathogenic 253103 rs748749078 GRCh37: 22:19470341-19470341
GRCh38: 22:19482818-19482818
4 CDC45 NM_001178011.2(CDC45):c.205-1051TA[4] Microsatellite Pathogenic 619950 rs752023208 GRCh37: 22:19470333-19470334
GRCh38: 22:19482810-19482811
5 GMNN NM_015895.5(GMNN):c.274+1G>A SNV Pathogenic 1031941 GRCh37: 6:24781850-24781850
GRCh38: 6:24781622-24781622
6 ORC1 NM_004153.4(ORC1):c.380A>G (p.Glu127Gly) SNV Pathogenic 30230 rs387906826 GRCh37: 1:52863379-52863379
GRCh38: 1:52397707-52397707
7 ORC1 NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) SNV Pathogenic 30231 rs387906827 GRCh37: 1:52863493-52863493
GRCh38: 1:52397821-52397821
8 ORC4 NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) Duplication Pathogenic 30296 rs797044461 GRCh37: 2:148696793-148696794
GRCh38: 2:147939224-147939225
9 ORC4 NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del Deletion Pathogenic 30297 GRCh37: 2:148701092-148778176
GRCh38: 2:147943523-148020607
10 CDT1 NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) SNV Pathogenic 30498 rs387906917 GRCh37: 16:88873798-88873798
GRCh38: 16:88807390-88807390
11 CDT1 NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) SNV Pathogenic 30499 rs147914553 GRCh37: 16:88874605-88874605
GRCh38: 16:88808197-88808197
12 CDT1 CDT1, IVS2DS, G-C, +1 SNV Pathogenic 30500 GRCh37:
GRCh38:
13 CDT1 NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) SNV Pathogenic 30501 rs387906918 GRCh37: 16:88870435-88870435
GRCh38: 16:88804027-88804027
14 CDT1 NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) SNV Pathogenic 30502 rs200652608 GRCh37: 16:88873815-88873815
GRCh38: 16:88807407-88807407
15 ORC6 NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) Deletion Pathogenic 30655 rs786205258 GRCh37: 16:46726353-46726354
GRCh38: 16:46692441-46692442
16 ORC6 NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) SNV Pathogenic 30656 rs387906969 GRCh37: 16:46731433-46731433
GRCh38: 16:46697521-46697521
17 CDT1 NM_030928.4(CDT1):c.832+1G>A SNV Pathogenic 128664 rs587780305 GRCh37: 16:88872278-88872278
GRCh38: 16:88805870-88805870
18 ORC1 NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln) SNV Pathogenic 30233 rs387906828 GRCh37: 1:52841246-52841246
GRCh38: 1:52375574-52375574
19 ORC1 NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs) Indel Pathogenic 30234 rs1557573504 GRCh37: 1:52849105-52849106
GRCh38: 1:52383433-52383434
20 ORC1 NM_004153.4(ORC1):c.1482-2A>G SNV Pathogenic 30235 rs1378348220 GRCh37: 1:52850936-52850936
GRCh38: 1:52385264-52385264
21 ORC1 NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp) SNV Pathogenic 30236 rs201253919 GRCh37: 1:52849109-52849109
GRCh38: 1:52383437-52383437
22 CDC6 NM_001254.4(CDC6):c.968C>G (p.Thr323Arg) SNV Pathogenic 30271 rs387906842 GRCh37: 17:38450640-38450640
GRCh38: 17:40294388-40294388
23 GMNN NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) SNV Pathogenic 203999 rs864309486 GRCh37: 6:24777490-24777490
GRCh38: 6:24777262-24777262
24 GMNN NM_015895.5(GMNN):c.35_38del (p.Ile12fs) Deletion Pathogenic 204000 rs864309487 GRCh37: 6:24777507-24777510
GRCh38: 6:24777279-24777282
25 GMNN NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) SNV Pathogenic 204001 rs864309488 GRCh37: 6:24777524-24777524
GRCh38: 6:24777296-24777296
26 GMNN NM_015895.5(GMNN):c.16A>T (p.Lys6Ter) SNV Pathogenic 203999 rs864309486 GRCh37: 6:24777490-24777490
GRCh38: 6:24777262-24777262
27 ORC6 NM_014321.4(ORC6):c.598_601AGAA[1] (p.Lys201fs) Microsatellite Pathogenic 253274 rs879255692 GRCh37: 16:46729964-46729967
GRCh38: 16:46696052-46696055
28 ORC4 NM_181741.4(ORC4):c.1226del (p.Thr409fs) Deletion Pathogenic 211805 rs797045852 GRCh37: 2:148693164-148693164
GRCh38: 2:147935595-147935595
29 GMNN NM_015895.5(GMNN):c.35_38del (p.Ile12fs) Deletion Pathogenic 204000 rs864309487 GRCh37: 6:24777507-24777510
GRCh38: 6:24777279-24777282
30 ORC1 NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) SNV Pathogenic 30232 rs143141689 GRCh37: 1:52863445-52863445
GRCh38: 1:52397773-52397773
31 ORC4 NM_181741.4(ORC4):c.1A>G (p.Met1Val) SNV Pathogenic 225427 rs1085307083 GRCh37: 2:148733527-148733527
GRCh38: 2:147975958-147975958
32 ORC6 NM_014321.4(ORC6):c.1A>G (p.Met1Val) SNV Pathogenic 436124 rs777153067 GRCh37: 16:46723618-46723618
GRCh38: 16:46689706-46689706
33 ORC6 NM_014321.4(ORC6):c.263_264del (p.Cys88fs) Microsatellite Pathogenic 1031261 GRCh37: 16:46726359-46726360
GRCh38: 16:46692447-46692448
34 ORC1 NM_004153.4(ORC1):c.2014-2A>G SNV Pathogenic 1034051 GRCh37: 1:52847435-52847435
GRCh38: 1:52381763-52381763
35 ORC1 NM_004153.4(ORC1):c.237del (p.Pro80fs) Deletion Pathogenic 1034052 GRCh37: 1:52863522-52863522
GRCh38: 1:52397850-52397850
36 ORC6 NM_014321.4(ORC6):c.449+5G>A SNV Pathogenic/Likely pathogenic 253273 rs572314014 GRCh37: 16:46727099-46727099
GRCh38: 16:46693187-46693187
37 ORC6 NM_014321.4(ORC6):c.2T>C (p.Met1Thr) SNV Pathogenic/Likely pathogenic 253272 rs146795505 GRCh37: 16:46723619-46723619
GRCh38: 16:46689707-46689707
38 ORC6 NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) SNV Likely pathogenic 436123 rs200089121 GRCh37: 16:46726333-46726333
GRCh38: 16:46692421-46692421
39 CDT1 NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) SNV Likely pathogenic 30498 rs387906917 GRCh37: 16:88873798-88873798
GRCh38: 16:88807390-88807390
40 GMNN NM_015895.5(GMNN):c.50A>G (p.Lys17Arg) SNV Likely pathogenic 204001 rs864309488 GRCh37: 6:24777524-24777524
GRCh38: 6:24777296-24777296
41 ORC4 NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) SNV Likely pathogenic 30295 rs387906847 GRCh37: 2:148710009-148710009
GRCh38: 2:147952440-147952440
42 ORC1 NM_004153.4(ORC1):c.314G>A (p.Arg105Gln) SNV Likely pathogenic 30232 rs143141689 GRCh37: 1:52863445-52863445
GRCh38: 1:52397773-52397773
43 CDC45 NM_001178010.2(CDC45):c.469C>T (p.Arg157Cys) SNV Likely pathogenic 253100 rs540217942 GRCh37: 22:19471511-19471511
GRCh38: 22:19483988-19483988
44 CDC45 NM_001178010.2(CDC45):c.1117C>T (p.Arg373Trp) SNV Likely pathogenic 635406 rs540900837 GRCh37: 22:19495353-19495353
GRCh38: 22:19507830-19507830
45 CDC45 NM_001178010.2(CDC45):c.989C>T (p.Ala330Val) SNV Likely pathogenic 253104 rs146559223 GRCh37: 22:19494977-19494977
GRCh38: 22:19507454-19507454
46 CDC45 NM_001178010.2(CDC45):c.773A>G (p.Asp258Gly) SNV Likely pathogenic 253097 rs754080445 GRCh37: 22:19486647-19486647
GRCh38: 22:19499124-19499124
47 CDC45 NM_001178010.2(CDC45):c.203A>G (p.Gln68Arg) SNV Likely pathogenic 253102 rs879255633 GRCh37: 22:19468567-19468567
GRCh38: 22:19481044-19481044
48 CDC45 NM_001178010.2(CDC45):c.226A>C (p.Asn76His) SNV Likely pathogenic 253099 rs879255632 GRCh37: 22:19470234-19470234
GRCh38: 22:19482711-19482711
49 ORC1 NM_004153.4(ORC1):c.2484del (p.Cys829fs) Deletion Likely pathogenic 998022 GRCh37: 1:52838955-52838955
GRCh38: 1:52373283-52373283
50 ORC1 NM_004153.4(ORC1):c.313C>T (p.Arg105Trp) SNV Likely pathogenic 982308 GRCh37: 1:52863446-52863446
GRCh38: 1:52397774-52397774

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

72
# Symbol AA change Variation ID SNP ID
1 ORC1 p.Phe89Ser VAR_065481 rs387906827
2 ORC1 p.Arg105Gln VAR_065482 rs143141689
3 ORC1 p.Glu127Gly VAR_065483 rs387906826
4 ORC1 p.Arg666Trp VAR_065484 rs201253919
5 ORC1 p.Arg720Gln VAR_065485 rs387906828

Expression for Meier-Gorlin Syndrome 1

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

Pathways for Meier-Gorlin Syndrome 1

Pathways related to Meier-Gorlin Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 ORC6 ORC4 ORC1 KMT5A H2AC18 GMNN
2
Show member pathways
12.78 SETD3 PHF21A KMT5B KMT5A KDM4C H2AC18
3
Show member pathways
12.37 ORC6 ORC4 ORC1 CDC6 CDC45
4
Show member pathways
12.25 ORC6 ORC4 ORC1 CDT1 CDC6 CDC45
5 12.13 ORC6 ORC4 ORC1 CDC6 CDC45
6 12.1 ORC6 ORC1 GMNN CDT1 CDC6 CDC45
7
Show member pathways
11.87 ORC6 ORC4 ORC1 GMNN CDT1 CDC6
8
Show member pathways
11.82 SETD3 KMT5B KMT5A
9 11.6 ORC1 CDT1 CDC45
10 11.34 ORC1 GMNN CDC6
11 10.73 ORC6 ORC4 ORC1 CDT1 CDC6 CDC45

GO Terms for Meier-Gorlin Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 SETD3 RIOX1 PHF21A ORC6 ORC4 ORC1
2 nucleoplasm GO:0005654 9.8 SETD3 RIOX1 PHF21A ORC6 ORC4 ORC1
3 nuclear origin of replication recognition complex GO:0005664 9.33 ORC6 ORC4 ORC1
4 origin recognition complex GO:0000808 8.8 ORC6 ORC4 ORC1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.92 KMT5A GMNN CDT1 CDC6 CDC45
2 chromatin organization GO:0006325 9.8 RIOX1 PHF21A KMT5B KMT5A KDM4C
3 DNA replication GO:0006260 9.63 ORC6 ORC4 ORC1 CDT1 CDC6 CDC45
4 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 ORC1 CDT1 CDC6 CDC45
5 negative regulation of DNA replication GO:0008156 9.51 GMNN CDC6
6 DNA replication checkpoint GO:0000076 9.5 CDT1 CDC6 CDC45
7 positive regulation of chromatin binding GO:0035563 9.49 GMNN CDT1
8 peptidyl-lysine monomethylation GO:0018026 9.48 SETD3 KMT5A
9 histone H3-K36 demethylation GO:0070544 9.46 RIOX1 KDM4C
10 mitotic DNA replication checkpoint GO:0033314 9.43 ORC1 CDC6
11 DNA replication preinitiation complex assembly GO:0071163 9.37 GMNN CDT1
12 DNA replication initiation GO:0006270 9.35 ORC6 ORC4 ORC1 CDC6 CDC45
13 G1/S transition of mitotic cell cycle GO:0000082 9.17 ORC6 ORC4 ORC1 GMNN CDT1 CDC6

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 PHF21A ORC1 KMT5B KDM4C GMNN CDT1
2 histone demethylase activity (H3-K36 specific) GO:0051864 9.26 RIOX1 KDM4C
3 histone methyltransferase activity (H4-K20 specific) GO:0042799 9.16 KMT5B KMT5A
4 DNA replication origin binding GO:0003688 8.92 ORC4 ORC1 CDC6 CDC45

Sources for Meier-Gorlin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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