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 56 12 73 29 13 6 15
Meier-Gorlin Syndrome 56 12 52 25 58 36 29 6 43 15 39
Ear, Patella, Short Stature Syndrome 56 52 25 71
Microtia, Absent Patellae, Micrognathia Syndrome 56 52 25
Ear-Patella-Short Stature Syndrome 12 58
Mgors1 56 73
Eps 56 73
Microtia Absent Patellae Micrognathia Syndrome 73
Ear, Patella, Short Stature Syndrome; Eps 56
Ear Patella Short Stature Syndrome 73
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:

56
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

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. 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 breast, bone and testes, and related phenotypes are delayed skeletal maturation and microcephaly

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 30)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 31.4 RNU4ATAC ORC6 ORC4 GMNN CDT1 CDC6
2 seckel syndrome 31.1 RNU4ATAC ORC6 ORC4 CDT1 CDC6 CDC45
3 microcephaly 30.3 RNU4ATAC ORC6 ORC4 ORC1 GMNN CDT1
4 meier-gorlin syndrome 4 13.1
5 meier-gorlin syndrome 2 13.1
6 meier-gorlin syndrome 3 13.1
7 meier-gorlin syndrome 5 13.1
8 meier-gorlin syndrome 8 13.1
9 meier-gorlin syndrome 6 13.1
10 meier-gorlin syndrome 7 13.1
11 cryptorchidism, unilateral or bilateral 10.5
12 pulmonary emphysema 10.5
13 craniosynostosis 10.4
14 microtia 10.4
15 laryngomalacia 10.3
16 wolf-hirschhorn syndrome 10.3
17 microcephaly-micromelia syndrome 10.3
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
19 helix syndrome 10.3
20 chromosome 4p deletion 10.3
21 genitourinary tract anomalies 10.2 ORC6 ORC4 ORC1 GMNN CDT1 CDC6
22 ventriculomegaly with cystic kidney disease 10.2 PSPH LIFR KLHDC2 CRB2 ATP5MD
23 branchiootic syndrome 1 10.2
24 autosomal recessive disease 10.2
25 autosomal recessive non-syndromic intellectual disability 10.2
26 hypogonadism 10.2
27 dwarfism 10.2
28 growth hormone deficiency 10.2
29 hyperoxaluria, primary, type i 10.2 KMT5B KDM4C H4C11
30 primary hyperoxaluria 10.0 KMT5B KDM4C H4C11

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 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
5 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
9 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
10 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
11 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
12 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
13 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
14 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
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 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
35 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
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 pectus carinatum 31 HP:0000768
48 microtia 31 HP:0008551
49 gastroesophageal reflux 31 HP:0002020
50 feeding difficulties in infancy 31 HP:0008872

Symptoms via clinical synopsis from OMIM:

56
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

Growth Other:
failure to thrive
intrauterine growth retardation

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

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 Head:
microcephaly
small anterior fontanel

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems

Skeletal Limbs:
genu valgum
genu varum
elbow dislocation
slender long bones
aplastic or hypoplastic patellae
more
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

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
4 Decreased CDKN1A mRNA expression GR00389-S-1 8.85 SETD3

MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 CAMKMT CDC45 CRB2 GMNN KDM4C KMT5A
2 mortality/aging MP:0010768 9.4 CDC45 CRB2 GMNN KDM4C KLHDC2 KMT5A

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
Breast, Bone, Testes, Lung, Skin, Eye

Publications for Meier-Gorlin Syndrome 1

Articles related to Meier-Gorlin Syndrome 1:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 61 56 6
22333897 2012
2
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 61 6 56
21358631 2011
3
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. 61 6 56
21358633 2011
4
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 61 56 6
21358632 2011
5
Another adult with Meier-Gorlin syndrome--insights into the natural history. 6 56 61
14564153 2003
6
Meier-Gorlin syndrome: report of eight additional cases and review. 6 56 61
11477602 2001
7
Clinical identification of a human equivalent to the short ear (se) murine phenotype. 6 56
7710253 1994
8
Malformation syndromes. A selected miscellany. 56 6
819054 1975
9
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 6 61
27374770 2016
10
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 61 6
26637980 2015
11
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. 61 6
25691413 2015
12
Human syndromes with congenital patellar anomalies and the underlying gene defects. 61 56
16143015 2005
13
Meier-Gorlin syndrome. 6 61
11992493 2002
14
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. 56 61
11807867 2002
15
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. 56 61
10213048 1999
16
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). 56 61
7981855 1994
17
A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features. 6
17256795 2007
18
Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings. 56
16088921 2005
19
Direct interaction of geminin and Six3 in eye development. 6
14973488 2004
20
Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype? 56
11182936 2000
21
Microtia and short stature: a new syndrome. 56
1770537 1991
22
Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears. 56
3344763 1988
23
[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)]. 56
13672525 1959
24
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. 61
31784481 2020
25
Tissue-Specific DNA Replication Defects in Drosophila melanogaster Caused by a Meier-Gorlin Syndrome Mutation in Orc4. 61
31818869 2020
26
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
27
Further delineation of CDC45-related Meier-Gorlin syndrome with craniosynostosis and review of literature. 61
30986546 2020
28
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. 61
31407851 2019
29
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors. 61
30696958 2019
30
Meier-Gorlin syndrome: an additional case report in an adult woman. 61
30451704 2019
31
Helicase Subunit Cdc45 Targets the Checkpoint Kinase Rad53 to Both Replication Initiation and Elongation Complexes after Fork Stalling. 61
30595439 2019
32
Meier-Gorlin syndrome caused by ORC1 mutation associated with chromosomal breakage - coincidental finding or new feature of known syndrome? 61
31274184 2019
33
Cdt1 variants reveal unanticipated aspects of interactions with cyclin/CDK and MCM important for normal genome replication. 61
30281379 2018
34
Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report. 61
29942112 2018
35
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing. 61
28425089 2017
36
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype. 61
28985365 2017
37
Defective replication initiation results in locus specific chromosome breakage and a ribosomal RNA deficiency in yeast. 61
29036220 2017
38
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. 61
28198391 2017
39
[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16]. 61
28186598 2017
40
Structure of the active form of human origin recognition complex and its ATPase motor module. 61
28112645 2017
41
Primordial dwarfism: overview of clinical and genetic aspects. 61
26323792 2016
42
Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6. 61
26139588 2015
43
Meier-Gorlin syndrome. 61
26381604 2015
44
A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association. 61
25689043 2015
45
Molecular and cellular basis of autosomal recessive primary microcephaly. 61
25548773 2014
46
Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum. 61
25059018 2014
47
A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. 61
24137536 2013
48
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. 61
23706772 2013
49
The origin recognition complex in human diseases. 61
23662735 2013
50
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. 61
23516378 2013

Variations for Meier-Gorlin Syndrome 1

ClinVar genetic disease variations for Meier-Gorlin Syndrome 1:

6 (show top 50) (show all 85) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ORC1 NM_004153.4(ORC1):c.2159G>A (p.Arg720Gln)SNV Pathogenic 30233 rs387906828 1:52841246-52841246 1:52375574-52375574
2 ORC1 NM_004153.4(ORC1):c.1999_2000delinsA (p.Val667fs)indel Pathogenic 30234 rs1557573504 1:52849105-52849106 1:52383433-52383434
3 ORC1 NM_004153.4(ORC1):c.1482-2A>GSNV Pathogenic 30235 rs1378348220 1:52850936-52850936 1:52385264-52385264
4 ORC1 NM_004153.4(ORC1):c.1996C>T (p.Arg666Trp)SNV Pathogenic 30236 rs201253919 1:52849109-52849109 1:52383437-52383437
5 GMNN NM_015895.5(GMNN):c.16A>T (p.Lys6Ter)SNV Pathogenic 203999 rs864309486 6:24777490-24777490 6:24777262-24777262
6 GMNN NM_015895.5(GMNN):c.35_38del (p.Ile12fs)deletion Pathogenic 204000 rs864309487 6:24777507-24777510 6:24777279-24777282
7 ORC1 NM_004153.4(ORC1):c.380A>G (p.Glu127Gly)SNV Pathogenic 30230 rs387906826 1:52863379-52863379 1:52397707-52397707
8 ORC1 NM_004153.4(ORC1):c.266T>C (p.Phe89Ser)SNV Pathogenic 30231 rs387906827 1:52863493-52863493 1:52397821-52397821
9 ORC1 NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)SNV Pathogenic/Likely pathogenic 30232 rs143141689 1:52863445-52863445 1:52397773-52397773
10 GMNN NM_015895.5(GMNN):c.50A>G (p.Lys17Arg)SNV Likely pathogenic 204001 rs864309488 6:24777524-24777524 6:24777296-24777296
11 CDT1 NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln)SNV Likely pathogenic 30498 rs387906917 16:88873798-88873798 16:88807390-88807390
12 ORC1 NM_004153.4(ORC1):c.2580C>T (p.Asp860=)SNV Conflicting interpretations of pathogenicity 703217 1:52838859-52838859 1:52373187-52373187
13 ORC1 NM_004153.4(ORC1):c.1707T>C (p.Asn569=)SNV Conflicting interpretations of pathogenicity 703005 1:52850270-52850270 1:52384598-52384598
14 ORC1 NM_004153.4(ORC1):c.1405T>C (p.Cys469Arg)SNV Conflicting interpretations of pathogenicity 732313 1:52851600-52851600 1:52385928-52385928
15 ORC1 NM_004153.4(ORC1):c.403-7A>CSNV Conflicting interpretations of pathogenicity 211801 rs199834691 1:52862043-52862043 1:52396371-52396371
16 ORC6 , VPS35 NM_014321.4(ORC6):c.-47G>ASNV Conflicting interpretations of pathogenicity 260387 rs144065502 16:46723571-46723571 16:46689659-46689659
17 ORC1 NM_004153.4(ORC1):c.1819A>G (p.Thr607Ala)SNV Conflicting interpretations of pathogenicity 297580 rs139027440 1:52849546-52849546 1:52383874-52383874
18 ORC1 NM_004153.4(ORC1):c.1671C>T (p.Ala557=)SNV Conflicting interpretations of pathogenicity 297581 rs61756137 1:52850306-52850306 1:52384634-52384634
19 ORC1 NM_004153.4(ORC1):c.*226G>CSNV Uncertain significance 297575 rs886046395 1:52838627-52838627 1:52372955-52372955
20 ORC1 NM_004153.4(ORC1):c.1139G>T (p.Arg380Leu)SNV Uncertain significance 297585 rs576163345 1:52854937-52854937 1:52389265-52389265
21 ORC1 NM_001190818.1(ORC1):c.-196C>GSNV Uncertain significance 297590 rs886046401 1:52870111-52870111 1:52404439-52404439
22 ORC6 NM_014321.4(ORC6):c.*599_*602GATA[11]short repeat Uncertain significance 319317 rs60635029 16:46732095-46732096 16:46698183-46698184
23 ORC6 NM_014321.4(ORC6):c.*578_*581AGAT[6]short repeat Uncertain significance 319312 rs568119196 16:46732072-46732073 16:46698160-46698161
24 ORC6 NM_014321.4(ORC6):c.*599_*602GATA[10]short repeat Uncertain significance 319319 rs60635029 16:46732095-46732096 16:46698183-46698184
25 ORC6 NM_014321.4(ORC6):c.*807G>ASNV Uncertain significance 319326 rs753486103 16:46732304-46732304 16:46698392-46698392
26 CDC6 NM_001254.4(CDC6):c.*511G>ASNV Uncertain significance 323066 rs886052905 17:38458764-38458764 17:40302512-40302512
27 ORC6 NM_014321.4(ORC6):c.*602A>GSNV Uncertain significance 319322 rs779826723 16:46732099-46732099 16:46698187-46698187
28 ORC6 NM_014321.4(ORC6):c.*599_*602GATA[13]short repeat Uncertain significance 319320 rs60635029 16:46732095-46732096 16:46698183-46698184
29 ORC6 NM_014321.4(ORC6):c.*764_*767deldeletion Uncertain significance 319325 rs756903337 16:46732258-46732261 16:46698346-46698349
30 CDC6 NM_001254.4(CDC6):c.134_136CTC[1] (p.Pro46del)short repeat Uncertain significance 323053 rs776043160 17:38445806-38445808 17:40289554-40289556
31 ORC6 NM_014321.4(ORC6):c.*576dupduplication Uncertain significance 319311 rs771626686 16:46732072-46732073 16:46698160-46698161
32 ORC6 NM_014321.4(ORC6):c.*598delinsAGATGGATAGATAGATAGATAindel Uncertain significance 319316 rs886052017 16:46732095-46732095 16:46698183-46698183
33 ORC1 NM_004153.4(ORC1):c.2404C>T (p.His802Tyr)SNV Uncertain significance 297577 rs886046396 1:52839035-52839035 1:52373363-52373363
34 ORC1 NM_004153.4(ORC1):c.435G>A (p.Pro145=)SNV Uncertain significance 297587 rs886046398 1:52862004-52862004 1:52396332-52396332
35 ORC1 NM_004153.4(ORC1):c.392G>T (p.Gly131Val)SNV Uncertain significance 297588 rs886046399 1:52863367-52863367 1:52397695-52397695
36 ORC1 NM_004153.4(ORC1):c.*94C>TSNV Uncertain significance 297576 rs574908976 1:52838759-52838759 1:52373087-52373087
37 ORC1 NM_004153.4(ORC1):c.2382G>A (p.Thr794=)SNV Uncertain significance 297578 rs146844078 1:52840491-52840491 1:52374819-52374819
38 ORC1 NM_004153.4(ORC1):c.1430G>A (p.Arg477Gln)SNV Uncertain significance 297583 rs886046397 1:52851575-52851575 1:52385903-52385903
39 ORC1 NM_004153.4(ORC1):c.1284A>C (p.Thr428=)SNV Uncertain significance 297584 rs776642973 1:52854213-52854213 1:52388541-52388541
40 ORC1 NM_004153.4(ORC1):c.387C>T (p.Ile129=)SNV Uncertain significance 297589 rs886046400 1:52863372-52863372 1:52397700-52397700
41 ORC1 NM_004153.4(ORC1):c.535C>A (p.Pro179Thr)SNV Uncertain significance 297586 rs753124340 1:52861904-52861904 1:52396232-52396232
42 ORC1 NM_004153.4(ORC1):c.2570C>T (p.Ala857Val)SNV Uncertain significance 873948 1:52838869-52838869 1:52373197-52373197
43 ORC1 NM_004153.4(ORC1):c.2536C>T (p.Arg846Trp)SNV Uncertain significance 873949 1:52838903-52838903 1:52373231-52373231
44 ORC1 NM_004153.4(ORC1):c.2435C>T (p.Pro812Leu)SNV Uncertain significance 873950 1:52839004-52839004 1:52373332-52373332
45 ORC1 NM_004153.4(ORC1):c.2418C>T (p.Cys806=)SNV Uncertain significance 874893 1:52839021-52839021 1:52373349-52373349
46 ORC1 NM_004153.4(ORC1):c.1645C>T (p.Arg549Cys)SNV Uncertain significance 875829 1:52850332-52850332 1:52384660-52384660
47 ORC1 NM_004153.4(ORC1):c.1466A>T (p.Glu489Val)SNV Uncertain significance 875830 1:52851539-52851539 1:52385867-52385867
48 ORC1 NM_004153.4(ORC1):c.1383T>C (p.Ser461=)SNV Uncertain significance 876821 1:52854114-52854114 1:52388442-52388442
49 ORC1 NM_004153.4(ORC1):c.1196G>A (p.Gly399Asp)SNV Uncertain significance 876822 1:52854301-52854301 1:52388629-52388629
50 ORC1 NM_004153.4(ORC1):c.1025G>T (p.Gly342Val)SNV Uncertain significance 874010 1:52859172-52859172 1:52393500-52393500

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

73
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 ORC6 ORC4 ORC1 KMT5A H4C11 GMNN
2
Show member pathways
12.8 SETD3 PHF21A KMT5B KMT5A KDM4C H4C11
3
Show member pathways
12.37 ORC6 ORC4 ORC1 H4C11 CDC6 CDC45
4
Show member pathways
12.25 ORC6 ORC4 ORC1 CDT1 CDC6 CDC45
5 12.16 ORC6 ORC4 ORC1 CDC6 CDC45
6 12.1 ORC6 ORC1 GMNN CDT1 CDC6 CDC45
7
Show member pathways
11.89 SETD3 KMT5B KMT5A H4C11
8
Show member pathways
11.87 ORC6 ORC4 ORC1 GMNN CDT1 CDC6
9 11.63 ORC1 CDT1 CDC45
10 11.46 KMT5B KMT5A CAMKMT
11 11.37 ORC1 GMNN CDC6
12 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 PHF21A ORC6 ORC4 ORC1 KMT5B
2 nuclear chromosome, telomeric region GO:0000784 9.5 ORC4 ORC1 H4C11
3 nucleoplasm GO:0005654 9.5 SETD3 PHF21A ORC6 ORC4 ORC1 KMT5B
4 nuclear origin of replication recognition complex GO:0005664 9.33 ORC6 ORC4 ORC1
5 origin recognition complex GO:0000808 9.13 ORC6 ORC4 ORC1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.91 KMT5A GMNN CDT1 CDC6 CDC45
2 chromatin organization GO:0006325 9.83 PHF21A KMT5B KMT5A KDM4C
3 mitotic cell cycle GO:0000278 9.71 ORC1 CDT1 CDC6
4 methylation GO:0032259 9.71 SETD3 KMT5B KMT5A CAMKMT
5 DNA replication GO:0006260 9.63 ORC6 ORC4 ORC1 CDT1 CDC6 CDC45
6 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 ORC1 CDT1 CDC6 CDC45
7 DNA replication checkpoint GO:0000076 9.5 CDT1 CDC6 CDC45
8 negative regulation of DNA replication GO:0008156 9.49 GMNN CDC6
9 positive regulation of chromatin binding GO:0035563 9.48 GMNN CDT1
10 peptidyl-lysine monomethylation GO:0018026 9.46 SETD3 KMT5A
11 mitotic DNA replication checkpoint GO:0033314 9.43 ORC1 CDC6
12 DNA replication preinitiation complex assembly GO:0071163 9.37 GMNN CDT1
13 DNA replication initiation GO:0006270 9.35 ORC6 ORC4 ORC1 CDC6 CDC45
14 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 methyltransferase activity GO:0008168 9.56 SETD3 KMT5B KMT5A CAMKMT
2 chromatin binding GO:0003682 9.5 PHF21A ORC1 KMT5B KDM4C GMNN CDT1
3 histone-lysine N-methyltransferase activity GO:0018024 9.37 KMT5B KMT5A
4 protein-lysine N-methyltransferase activity GO:0016279 9.32 SETD3 KMT5A
5 histone methyltransferase activity (H4-K20 specific) GO:0042799 9.16 KMT5B KMT5A
6 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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