MCID: MRG008
MIFTS: 52

Meier-Gorlin Syndrome 1

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

Aliases & Classifications for Meier-Gorlin Syndrome 1

MalaCards integrated aliases for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 57 75 29 13 6
Meier-Gorlin Syndrome 57 12 53 25 59 37 29 6 44 15 40
Ear, Patella, Short Stature Syndrome 57 53 25 73
Microtia, Absent Patellae, Micrognathia Syndrome 57 53 25
Ear-Patella-Short Stature Syndrome 12 59
Mgors1 57 75
Eps 57 75
Microtia Absent Patellae Micrognathia Syndrome 75
Ear, Patella, Short Stature Syndrome; Eps 57
Ear Patella Short Stature Syndrome 75
Meier-Gorlin Syndrome, Type 1 40

Characteristics:

Orphanet epidemiological data:

59
ear-patella-short stature syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
meier-gorlin syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 1

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to isolated growth hormone deficiency, type ia and meier-gorlin syndrome 3. 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 bone and skin, and related phenotypes are low-set ears and abnormality of epiphysis morphology

Disease Ontology : 12 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 : 53 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 conditionĀ has an autosomal recessiveĀ pattern of inheritance.

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)

Related Diseases for Meier-Gorlin Syndrome 1

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
hearing loss
mondini malformation
bilateral microtia
atretic auditory canal

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

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth
full lips

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

Skeletal:
joint laxity
delayed bone age
joint contractures

Skin Nails Hair Hair:
long eyelashes

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

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

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

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly
small anterior fontanel

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems

Head And Neck Eyes:
strabismus
long eyelashes
short palpebral fissures

GenitourinaryInternal GenitaliaMale:
cryptorchidism

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

Skeletal Spine:
hemivertebrae

Genitourinary External Genitalia Male:
micropenis
shawl scrotum

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

Human phenotypes related to Meier-Gorlin Syndrome 1:

59 32 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 frequent (33%) Frequent (79-30%) HP:0000369
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
7 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
8 thick vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0012471
9 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
10 cleft palate 59 32 Occasional (29-5%) HP:0000175
11 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
12 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
13 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
14 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
15 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
16 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
17 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
18 specific learning disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001328
19 high, narrow palate 59 32 frequent (33%) Frequent (79-30%) HP:0002705
20 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
21 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
22 hypoplasia of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000327
23 respiratory failure 59 32 frequent (33%) Frequent (79-30%) HP:0002878
24 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
25 elbow dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0003042
26 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
27 hypoplasia of penis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008736
28 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
29 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
30 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
31 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
32 epispadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000039
33 bifid uvula 59 32 occasional (7.5%) Occasional (29-5%) HP:0000193
34 hypoplastic labia majora 59 32 frequent (33%) Frequent (79-30%) HP:0000059
35 submucous cleft hard palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000176
36 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
37 slender long bone 59 32 hallmark (90%) Very frequent (99-80%) HP:0003100
38 posteriorly rotated ears 59 32 frequent (33%) Frequent (79-30%) HP:0000358
39 patellar aplasia 59 32 frequent (33%) Frequent (79-30%) HP:0006443
40 clitoral hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000060
41 mandibular aplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009939
42 clitoral hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008665
43 anotia 59 32 hallmark (90%) Very frequent (99-80%) HP:0009892
44 microtia, third degree 59 32 hallmark (90%) Very frequent (99-80%) HP:0011267
45 hypoplastic labia minora 59 32 frequent (33%) Frequent (79-30%) HP:0000064
46 frontal bossing 32 HP:0002007
47 genu valgum 32 HP:0002857
48 high palate 32 HP:0000218
49 pectus carinatum 32 HP:0000768
50 microtia 32 HP:0008551

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 9.77 MCM5 ORC1 ATR CDC45 CDC6 CDT1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 GMNN MCM5 ORC1 ATR CDC45 CDC6
3 Increased Nanog expression GR00371-A-1 9.43 GMNN MCM5
4 Increased Nanog expression GR00371-A-3 9.43 CDC6 CEP63 GMNN MCM5

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 29
2 Meier-Gorlin Syndrome 1 29 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

41
Bone, Skin

Publications for Meier-Gorlin Syndrome 1

Articles related to Meier-Gorlin Syndrome 1:

(show all 27)
# Title Authors Year
1
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. ( 28198391 )
2017
2
Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype. ( 28985365 )
2017
3
[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16]. ( 28186598 )
2017
4
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. ( 27374770 )
2016
5
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. ( 25691413 )
2015
6
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980 )
2015
7
A Meier-Gorlin Syndrome Mutation Impairs the ORC1-Nucleosome Association. ( 25689043 )
2015
8
Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum. ( 25059018 )
2014
9
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. ( 23706772 )
2013
10
A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. ( 24137536 )
2013
11
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. ( 23516378 )
2013
12
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. ( 22398447 )
2012
13
Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. ( 22855792 )
2012
14
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. ( 22333897 )
2012
15
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. ( 23023959 )
2012
16
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. ( 21358632 )
2011
17
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. ( 21358633 )
2011
18
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. ( 21358631 )
2011
19
Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome. ( 21895639 )
2011
20
Total knee arthroplasty in Meier-Gorlin syndrome. ( 15483813 )
2004
21
Another adult with Meier-Gorlin syndrome--insights into the natural history. ( 14564153 )
2003
22
Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. ( 11807867 )
2002
23
Meier-Gorlin syndrome. ( 11992493 )
2002
24
Meier-Gorlin syndrome: report of eight additional cases and review. ( 11477602 )
2001
25
The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. ( 10213048 )
1999
26
Meier-Gorlin syndrome: the adult phenotype. ( 9690002 )
1998
27
Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). ( 7981855 )
1994

Variations for Meier-Gorlin Syndrome 1

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

75
# 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

ClinVar genetic disease variations for Meier-Gorlin Syndrome 1:

6
(show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 ORC1 NM_004153.3(ORC1): c.380A> G (p.Glu127Gly) single nucleotide variant Pathogenic rs387906826 GRCh37 Chromosome 1, 52863379: 52863379
2 ORC1 NM_004153.3(ORC1): c.380A> G (p.Glu127Gly) single nucleotide variant Pathogenic rs387906826 GRCh38 Chromosome 1, 52397707: 52397707
3 ORC1 NM_004153.3(ORC1): c.266T> C (p.Phe89Ser) single nucleotide variant Pathogenic rs387906827 GRCh37 Chromosome 1, 52863493: 52863493
4 ORC1 NM_004153.3(ORC1): c.266T> C (p.Phe89Ser) single nucleotide variant Pathogenic rs387906827 GRCh38 Chromosome 1, 52397821: 52397821
5 ORC1 NM_004153.3(ORC1): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic/Likely pathogenic rs143141689 GRCh37 Chromosome 1, 52863445: 52863445
6 ORC1 NM_004153.3(ORC1): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic/Likely pathogenic rs143141689 GRCh38 Chromosome 1, 52397773: 52397773
7 ORC1 NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln) single nucleotide variant Pathogenic rs387906828 GRCh37 Chromosome 1, 52841246: 52841246
8 ORC1 NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln) single nucleotide variant Pathogenic rs387906828 GRCh38 Chromosome 1, 52375574: 52375574
9 ORC1 ORC1, 2-BP DEL/1-BP INS, NT2000 indel Pathogenic
10 ORC1 ORC1, IVS9, G-A, -2 single nucleotide variant Pathogenic
11 ORC1 NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp) single nucleotide variant Pathogenic rs201253919 GRCh37 Chromosome 1, 52849109: 52849109
12 ORC1 NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp) single nucleotide variant Pathogenic rs201253919 GRCh38 Chromosome 1, 52383437: 52383437
13 GMNN NM_015895.4(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 GRCh37 Chromosome 6, 24777490: 24777490
14 GMNN NM_015895.4(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 GRCh38 Chromosome 6, 24777262: 24777262
15 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh37 Chromosome 6, 24777509: 24777512
16 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh38 Chromosome 6, 24777281: 24777284
17 GMNN NM_015895.4(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Likely pathogenic rs864309488 GRCh37 Chromosome 6, 24777524: 24777524
18 GMNN NM_015895.4(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Likely pathogenic rs864309488 GRCh38 Chromosome 6, 24777296: 24777296
19 ORC1 NM_004153.3(ORC1): c.403-7A> C single nucleotide variant Uncertain significance rs199834691 GRCh38 Chromosome 1, 52396371: 52396371
20 ORC1 NM_004153.3(ORC1): c.403-7A> C single nucleotide variant Uncertain significance rs199834691 GRCh37 Chromosome 1, 52862043: 52862043
21 CDC6 NM_001254.3(CDC6): c.165C> T (p.Pro55=) single nucleotide variant Conflicting interpretations of pathogenicity rs142289528 GRCh38 Chromosome 17, 40289585: 40289585
22 CDC6 NM_001254.3(CDC6): c.165C> T (p.Pro55=) single nucleotide variant Conflicting interpretations of pathogenicity rs142289528 GRCh37 Chromosome 17, 38445837: 38445837
23 ORC1 NM_004153.3(ORC1): c.57G> C (p.Arg19Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs3087473 GRCh38 Chromosome 1, 52402167: 52402167
24 ORC1 NM_004153.3(ORC1): c.57G> C (p.Arg19Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs3087473 GRCh37 Chromosome 1, 52867839: 52867839
25 ORC6; VPS35 NM_014321.3(ORC6): c.-47G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144065502 GRCh37 Chromosome 16, 46723571: 46723571
26 ORC6; VPS35 NM_014321.3(ORC6): c.-47G> A single nucleotide variant Conflicting interpretations of pathogenicity rs144065502 GRCh38 Chromosome 16, 46689659: 46689659
27 ORC6; VPS35 NM_014321.3(ORC6): c.-20T> C single nucleotide variant Benign rs33994299 GRCh37 Chromosome 16, 46723598: 46723598
28 ORC6; VPS35 NM_014321.3(ORC6): c.-20T> C single nucleotide variant Benign rs33994299 GRCh38 Chromosome 16, 46689686: 46689686
29 ORC1 NM_004153.3(ORC1): c.2404C> T (p.His802Tyr) single nucleotide variant Uncertain significance rs886046396 GRCh38 Chromosome 1, 52373363: 52373363
30 ORC1 NM_004153.3(ORC1): c.2404C> T (p.His802Tyr) single nucleotide variant Uncertain significance rs886046396 GRCh37 Chromosome 1, 52839035: 52839035
31 ORC1 NM_004153.3(ORC1): c.1584-4C> G single nucleotide variant Uncertain significance rs114617697 GRCh38 Chromosome 1, 52384725: 52384725
32 ORC1 NM_004153.3(ORC1): c.1584-4C> G single nucleotide variant Uncertain significance rs114617697 GRCh37 Chromosome 1, 52850397: 52850397
33 ORC1 NM_004153.3(ORC1): c.435G> A (p.Pro145=) single nucleotide variant Uncertain significance rs886046398 GRCh38 Chromosome 1, 52396332: 52396332
34 ORC1 NM_004153.3(ORC1): c.435G> A (p.Pro145=) single nucleotide variant Uncertain significance rs886046398 GRCh37 Chromosome 1, 52862004: 52862004
35 ORC1 NM_004153.3(ORC1): c.392G> T (p.Gly131Val) single nucleotide variant Uncertain significance rs886046399 GRCh38 Chromosome 1, 52397695: 52397695
36 ORC1 NM_004153.3(ORC1): c.392G> T (p.Gly131Val) single nucleotide variant Uncertain significance rs886046399 GRCh37 Chromosome 1, 52863367: 52863367
37 ORC1 NM_004153.3(ORC1): c.*94C> T single nucleotide variant Uncertain significance rs574908976 GRCh38 Chromosome 1, 52373087: 52373087
38 ORC1 NM_004153.3(ORC1): c.*94C> T single nucleotide variant Uncertain significance rs574908976 GRCh37 Chromosome 1, 52838759: 52838759
39 ORC1 NM_004153.3(ORC1): c.2382G> A (p.Thr794=) single nucleotide variant Uncertain significance rs146844078 GRCh38 Chromosome 1, 52374819: 52374819
40 ORC1 NM_004153.3(ORC1): c.2382G> A (p.Thr794=) single nucleotide variant Uncertain significance rs146844078 GRCh37 Chromosome 1, 52840491: 52840491
41 ORC1 NM_004153.3(ORC1): c.1430G> A (p.Arg477Gln) single nucleotide variant Uncertain significance rs886046397 GRCh38 Chromosome 1, 52385903: 52385903
42 ORC1 NM_004153.3(ORC1): c.1430G> A (p.Arg477Gln) single nucleotide variant Uncertain significance rs886046397 GRCh37 Chromosome 1, 52851575: 52851575
43 ORC1 NM_004153.3(ORC1): c.1284A> C (p.Thr428=) single nucleotide variant Uncertain significance rs776642973 GRCh38 Chromosome 1, 52388541: 52388541
44 ORC1 NM_004153.3(ORC1): c.1284A> C (p.Thr428=) single nucleotide variant Uncertain significance rs776642973 GRCh37 Chromosome 1, 52854213: 52854213
45 ORC1 NM_004153.3(ORC1): c.387C> T (p.Ile129=) single nucleotide variant Uncertain significance rs886046400 GRCh38 Chromosome 1, 52397700: 52397700
46 ORC1 NM_004153.3(ORC1): c.387C> T (p.Ile129=) single nucleotide variant Uncertain significance rs886046400 GRCh37 Chromosome 1, 52863372: 52863372
47 ORC1 NM_004153.3(ORC1): c.*231C> T single nucleotide variant Likely benign rs3087471 GRCh38 Chromosome 1, 52372950: 52372950
48 ORC1 NM_004153.3(ORC1): c.*231C> T single nucleotide variant Likely benign rs3087471 GRCh37 Chromosome 1, 52838622: 52838622
49 ORC1 NM_004153.3(ORC1): c.2314G> A (p.Val772Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61753389 GRCh38 Chromosome 1, 52374887: 52374887
50 ORC1 NM_004153.3(ORC1): c.2314G> A (p.Val772Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61753389 GRCh37 Chromosome 1, 52840559: 52840559

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:

37
# Name Kegg Source Accession
1 Cell cycle hsa04110

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 nucleoplasm GO:0005654 9.93 ATR ATRIP CDC45 CDC6 CDT1 CEP152
2 centrosome GO:0005813 9.67 CDC45 CEP152 CEP63 PCNT
3 nuclear chromosome, telomeric region GO:0000784 9.56 ATR MCM5 ORC1 ORC4
4 centriole GO:0005814 9.5 CEP152 CEP63 PCNT
5 nuclear origin of replication recognition complex GO:0005664 9.13 ORC1 ORC4 ORC6
6 origin recognition complex GO:0000808 8.8 ORC1 ORC4 ORC6

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.95 CDC45 CDC6 CDT1 CEP63 GMNN MCM5
2 cell division GO:0051301 9.87 CDC6 CDT1 CEP63 MCM5
3 G2/M transition of mitotic cell cycle GO:0000086 9.73 CEP152 CEP63 PCNT
4 ciliary basal body-plasma membrane docking GO:0097711 9.71 CEP152 CEP63 PCNT
5 G1/S transition of mitotic cell cycle GO:0000082 9.7 CDC45 CDC6 CDT1 MCM5 ORC1 ORC4
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.69 CEP152 CEP63 PCNT
7 DNA damage checkpoint GO:0000077 9.61 ATR ATRIP CEP63
8 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 CDC45 CDC6 CDT1 ORC1
9 centriole replication GO:0007099 9.55 CEP152 CEP63
10 negative regulation of DNA replication GO:0008156 9.54 ATR CDC6 GMNN
11 positive regulation of chromatin binding GO:0035563 9.52 CDT1 GMNN
12 DNA replication checkpoint GO:0000076 9.5 CDC45 CDC6 CDT1
13 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.49 CEP152 CEP63
14 positive regulation of DNA-dependent DNA replication GO:2000105 9.46 BMP5 CDT1
15 DNA replication initiation GO:0006270 9.43 CDC45 CDC6 MCM5 ORC1 ORC4 ORC6
16 DNA replication preinitiation complex assembly GO:0071163 9.4 CDT1 GMNN
17 DNA replication GO:0006260 9.28 ATR ATRIP CDC45 CDC6 CDT1 MCM5

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 ATR CDT1 KAT6B LMX1B MCM5 ORC1
2 chromatin binding GO:0003682 9.55 CDC45 CDT1 GMNN MCM5 ORC1
3 nucleotide binding GO:0000166 9.35 ATR CDC6 MCM5 ORC1 ORC4
4 DNA replication origin binding GO:0003688 8.92 CDC45 MCM5 ORC4 ORC6
5 protein binding GO:0005515 10.16 ASPH ATR ATRIP CDC45 CDC6 CDT1

Sources for Meier-Gorlin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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