Meier-Gorlin Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MGORS1 MCID: MRG008 MIFTS: 54	Meier-Gorlin Syndrome 1 (MGORS1) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

Orphanet: ⁵⁹

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 224690

Disease Ontology ¹² DOID:0060306

MeSH ⁴⁴ C538012 D006130 D008844

Orphanet ⁵⁹ ORPHA2554

UMLS via Orphanet ⁷⁴ C1868684

MESH via Orphanet ⁴⁵ C538012

ICD10 via Orphanet ³⁴ Q87.1

MedGen ⁴² C1868684

KEGG ³⁷ H01889

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 406477003 more

UMLS ⁷³ C1868684

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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, skin and breast, 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 condition has an autosomal recessive 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)

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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 32)

#	Related Disease	Score	Top Affiliating Genes
1	isolated growth hormone deficiency, type ia	30.4	CDC6 CDT1 ORC4 ORC6 PCNT RNU4ATAC
2	meier-gorlin syndrome 3	12.9
3	meier-gorlin syndrome 8	12.8
4	meier-gorlin syndrome 2	12.8
5	meier-gorlin syndrome 4	12.8
6	meier-gorlin syndrome 5	12.8
7	meier-gorlin syndrome 6	12.7
8	meier-gorlin syndrome 7	12.7
9	dwarfism	10.5
10	wolf-hirschhorn syndrome	10.3
11	craniosynostosis	10.3
12	chromosome 4p deletion	10.3
13	melanoacanthoma	10.2	GMNN MCM5
14	growth hormone deficiency	10.2
15	microcephaly 3, primary, autosomal recessive	10.1	CEP152 CEP63
16	microtia	10.1	MCM5 ORC4 ORC6
17	seckel syndrome 1	10.1	ATR CEP152
18	microcephaly 17, primary, autosomal recessive	10.1	CEP152 CEP63
19	microcephaly 6, primary, autosomal recessive	10.1	CEP152 CEP63
20	seckel syndrome 2	10.1	ATR CEP152
21	genitopatellar syndrome	10.1	KAT6B LMX1B
22	microcephaly 4, primary, autosomal recessive	10.1	CEP152 CEP63
23	microcephaly 12, primary, autosomal recessive	10.1	CEP152 CEP63
24	microcephalic osteodysplastic primordial dwarfism, type i	10.0	PCNT RNU4ATAC
25	microcephaly 2, primary, autosomal recessive, with or without cortical malformations	10.0	CEP152 CEP63
26	congenital nervous system abnormality	10.0	CEP152 CEP63 RNU4ATAC
27	microcephaly 5, primary, autosomal recessive	10.0	CEP152 CEP63
28	microcephaly 7, primary, autosomal recessive	10.0	CEP152 CEP63
29	schizophrenia 1	9.8	CEP63 PCNT
30	genitourinary tract anomalies	9.8	CDC6 CDT1 GMNN MCM5 ORC1 ORC4
31	microcephaly	9.5	ATR CDC6 CDT1 CEP152 CEP63 ORC4
32	seckel syndrome	9.3	ATR ATRIP CEP152 CEP63 ORC4 ORC6

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

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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

Prenatal Manifestations Delivery:
breech presentation

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

Chest Breasts:
breast hypoplasia

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Spine:
hemivertebrae

Genitourinary External Genitalia Male:
micropenis
shawl scrotum

Skeletal Hands:
camptodactyly
fifth finger clinodactyly
small hands

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 92)

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

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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

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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

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Anatomical Context for Meier-Gorlin Syndrome 1

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

⁴¹

Bone, Skin, Breast

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Publications for Meier-Gorlin Syndrome 1

Articles related to Meier-Gorlin Syndrome 1:

(show all 31)

#	Title	Authors	Year
1	Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report. ( 29942112 )	Morankar RG...Kapur A	2018
2	Meier-Gorlin syndrome: an additional case report in an adult woman. ( 30451704 )	Belaid R...Chihaoui M	2018
3	MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. ( 28198391 )	Vetro A....Zuffardi O.	2017
4	Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype. ( 28985365 )	Yao L....Meng A.	2017
5	[A boy with Meier-Gorlin syndrome carrying a novel ORC6 mutation and uniparental disomy of chromosome 16]. ( 28186598 )	Li J....Shen Y.	2017
6	Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. ( 27374770 )		2016
7	Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. ( 25691413 )	Shalev S.A....Elpeleg O.	2015
8	De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. ( 26637980 )	Burrage L.C....Yang Y.	2015
9	A Meier-Gorlin Syndrome Mutation Impairs the ORC1-Nucleosome Association. ( 25689043 )		2015
10	Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6. ( 26139588 )	Balasov M...Chesnokov I	2015
11	Meier-Gorlin syndrome. ( 26381604 )	de Munnik SA...Bongers EM	2015
12	Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum. ( 25059018 )		2014
13	Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. ( 23706772 )	Kerzendorfer C....O'Driscoll M.	2013
14	A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation. ( 24137536 )		2013
15	Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. ( 23516378 )		2013
16	The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome. ( 22398447 )		2012
17	Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication. ( 22855792 )		2012
18	Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. ( 22333897 )		2012
19	Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. ( 23023959 )		2012
20	Mutations in the pre-replication complex cause Meier-Gorlin syndrome. ( 21358632 )	Bicknell L.S....Jackson A.P.	2011
21	Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. ( 21358633 )	Bicknell L.S....Jeggo P.A.	2011
22	Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. ( 21358631 )	Guernsey D.L....Samuels M.E.	2011
23	Of ORC and forks: the identification of mutations implicated in Meier-Gorlin syndrome. ( 21895639 )		2011
24	Total knee arthroplasty in Meier-Gorlin syndrome. ( 15483813 )	Dudkiewicz M....Tanzer M.	2004
25	Another adult with Meier-Gorlin syndrome--insights into the natural history. ( 14564153 )	Shalev S.A....Hall J.G.	2003
26	Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes. ( 11807867 )		2002
27	Meier-Gorlin syndrome. ( 11992493 )		2002
28	Meier-Gorlin syndrome: report of eight additional cases and review. ( 11477602 )		2001
29	The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs. ( 10213048 )	Loeys B.L....Leroy J.G.	1999
30	Meier-Gorlin syndrome: the adult phenotype. ( 9690002 )	Fryns J.P.	1998
31	Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome). ( 7981855 )	Boles R.G....Harper J.F.	1994

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Genes for Meier-Gorlin Syndrome 1

Genes related to Meier-Gorlin Syndrome 1 (7 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ORC1	Origin Recognition Complex Subunit 1	Protein Coding	1685.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21358633 21358632 819054 (more) 11477602 14564153 21358631
2	GMNN	Geminin, DNA Replication Inhibitor	Protein Coding	766.47	Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁹ DISEASES inferred ¹⁵
3	ORC6	Origin Recognition Complex Subunit 6	Protein Coding	369.28	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
4	ORC4	Origin Recognition Complex Subunit 4	Protein Coding	369.1	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
5	CDT1	Chromatin Licensing And DNA Replication Factor 1	Protein Coding	368.34	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
6	CDC6	Cell Division Cycle 6	Protein Coding	367.8	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
7	CDC45	Cell Division Cycle 45	Protein Coding	366.47	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
8	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	15.94	DISEASES inferred ¹⁵
9	CEP152	Centrosomal Protein 152	Protein Coding	15.6	DISEASES inferred ¹⁵
10	ATRIP	ATR Interacting Protein	Protein Coding	15.27	DISEASES inferred ¹⁵
11	BMP5	Bone Morphogenetic Protein 5	Protein Coding	14.82	DISEASES inferred ¹⁵
12	KAT6B	Lysine Acetyltransferase 6B	Protein Coding	14.78	DISEASES inferred ¹⁵
13	MCM5	Minichromosome Maintenance Complex Component 5	Protein Coding	14.73	DISEASES inferred ¹⁵
14	CEP63	Centrosomal Protein 63	Protein Coding	14.73	DISEASES inferred ¹⁵
15	ATR	ATR Serine/Threonine Kinase	Protein Coding	14.68	DISEASES inferred ¹⁵
16	PCNT	Pericentrin	Protein Coding	14.34	DISEASES inferred ¹⁵
17	ASPH	Aspartate Beta-Hydroxylase	Protein Coding	14.28	DISEASES inferred ¹⁵
18	LMX1B	LIM Homeobox Transcription Factor 1 Beta	Protein Coding	14.28	DISEASES inferred ¹⁵

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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 178)

#	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	NM_004153.3(ORC1): c.1999_2000delGTinsA (p.Val667Serfs)	indel	Pathogenic		GRCh38	Chromosome 1, 52383433: 52383434
10	ORC1	NM_004153.3(ORC1): c.1999_2000delGTinsA (p.Val667Serfs)	indel	Pathogenic		GRCh37	Chromosome 1, 52849105: 52849106
11	ORC1	NM_004153.3(ORC1): c.1482-2A> G	single nucleotide variant	Pathogenic		GRCh38	Chromosome 1, 52385264: 52385264
12	ORC1	NM_004153.3(ORC1): c.1482-2A> G	single nucleotide variant	Pathogenic		GRCh37	Chromosome 1, 52850936: 52850936
13	ORC1	NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)	single nucleotide variant	Pathogenic	rs201253919	GRCh37	Chromosome 1, 52849109: 52849109
14	ORC1	NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp)	single nucleotide variant	Pathogenic	rs201253919	GRCh38	Chromosome 1, 52383437: 52383437
15	CDC6	NM_001254.3(CDC6): c.1321G> A (p.Val441Ile)	single nucleotide variant	Benign	rs13706	GRCh37	Chromosome 17, 38457151: 38457151
16	CDC6	NM_001254.3(CDC6): c.1321G> A (p.Val441Ile)	single nucleotide variant	Benign	rs13706	GRCh38	Chromosome 17, 40300899: 40300899
17	CDC6	NM_001254.3(CDC6): c.438T> C (p.Cys146=)	single nucleotide variant	Benign	rs1130199	GRCh37	Chromosome 17, 38447569: 38447569
18	CDC6	NM_001254.3(CDC6): c.438T> C (p.Cys146=)	single nucleotide variant	Benign	rs1130199	GRCh38	Chromosome 17, 40291317: 40291317
19	ORC1	NM_004153.3(ORC1): c.1397C> T (p.Thr466Met)	single nucleotide variant	Likely benign	rs3087481	GRCh37	Chromosome 1, 52851608: 52851608
20	ORC1	NM_004153.3(ORC1): c.1397C> T (p.Thr466Met)	single nucleotide variant	Likely benign	rs3087481	GRCh38	Chromosome 1, 52385936: 52385936
21	ORC1	NM_004153.3(ORC1): c.1406G> A (p.Cys469Tyr)	single nucleotide variant	Benign/Likely benign	rs3087483	GRCh37	Chromosome 1, 52851599: 52851599
22	ORC1	NM_004153.3(ORC1): c.1406G> A (p.Cys469Tyr)	single nucleotide variant	Benign/Likely benign	rs3087483	GRCh38	Chromosome 1, 52385927: 52385927
23	ORC1	NM_004153.3(ORC1): c.2427G> A (p.Glu809=)	single nucleotide variant	Likely benign	rs77077945	GRCh37	Chromosome 1, 52839012: 52839012
24	ORC1	NM_004153.3(ORC1): c.2427G> A (p.Glu809=)	single nucleotide variant	Likely benign	rs77077945	GRCh38	Chromosome 1, 52373340: 52373340
25	ORC1	NM_004153.3(ORC1): c.2447T> C (p.Met816Thr)	single nucleotide variant	Likely benign	rs34521609	GRCh37	Chromosome 1, 52838992: 52838992
26	ORC1	NM_004153.3(ORC1): c.2447T> C (p.Met816Thr)	single nucleotide variant	Likely benign	rs34521609	GRCh38	Chromosome 1, 52373320: 52373320
27	ORC1	NM_004153.3(ORC1): c.568G> A (p.Val190Met)	single nucleotide variant	Benign/Likely benign	rs3087477	GRCh37	Chromosome 1, 52861871: 52861871
28	ORC1	NM_004153.3(ORC1): c.568G> A (p.Val190Met)	single nucleotide variant	Benign/Likely benign	rs3087477	GRCh38	Chromosome 1, 52396199: 52396199
29	ORC1	NM_004153.3(ORC1): c.806C> T (p.Ser269Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61753390	GRCh37	Chromosome 1, 52859391: 52859391
30	ORC1	NM_004153.3(ORC1): c.806C> T (p.Ser269Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs61753390	GRCh38	Chromosome 1, 52393719: 52393719
31	ORC6	NM_014321.3(ORC6): c.207T> G (p.Ile69Met)	single nucleotide variant	Uncertain significance	rs138076975	GRCh37	Chromosome 16, 46726305: 46726305
32	ORC6	NM_014321.3(ORC6): c.207T> G (p.Ile69Met)	single nucleotide variant	Uncertain significance	rs138076975	GRCh38	Chromosome 16, 46692393: 46692393
33	ORC6	NM_014321.3(ORC6): c.675T> C (p.Asp225=)	single nucleotide variant	Benign/Likely benign	rs34343511	GRCh37	Chromosome 16, 46731413: 46731413
34	ORC6	NM_014321.3(ORC6): c.675T> C (p.Asp225=)	single nucleotide variant	Benign/Likely benign	rs34343511	GRCh38	Chromosome 16, 46697501: 46697501
35	GMNN	NM_015895.4(GMNN): c.16A> T (p.Lys6Ter)	single nucleotide variant	Pathogenic	rs864309486	GRCh37	Chromosome 6, 24777490: 24777490
36	GMNN	NM_015895.4(GMNN): c.16A> T (p.Lys6Ter)	single nucleotide variant	Pathogenic	rs864309486	GRCh38	Chromosome 6, 24777262: 24777262
37	GMNN	NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs)	deletion	Pathogenic	rs864309487	GRCh37	Chromosome 6, 24777509: 24777512
38	GMNN	NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs)	deletion	Pathogenic	rs864309487	GRCh38	Chromosome 6, 24777281: 24777284
39	GMNN	NM_015895.4(GMNN): c.50A> G (p.Lys17Arg)	single nucleotide variant	Likely pathogenic	rs864309488	GRCh37	Chromosome 6, 24777524: 24777524
40	GMNN	NM_015895.4(GMNN): c.50A> G (p.Lys17Arg)	single nucleotide variant	Likely pathogenic	rs864309488	GRCh38	Chromosome 6, 24777296: 24777296
41	ORC1	NM_004153.3(ORC1): c.403-7A> C	single nucleotide variant	Uncertain significance	rs199834691	GRCh38	Chromosome 1, 52396371: 52396371
42	ORC1	NM_004153.3(ORC1): c.403-7A> C	single nucleotide variant	Uncertain significance	rs199834691	GRCh37	Chromosome 1, 52862043: 52862043
43	CDC6	NM_001254.3(CDC6): c.165C> T (p.Pro55=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142289528	GRCh38	Chromosome 17, 40289585: 40289585
44	CDC6	NM_001254.3(CDC6): c.165C> T (p.Pro55=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142289528	GRCh37	Chromosome 17, 38445837: 38445837
45	ORC1	NM_004153.3(ORC1): c.57G> C (p.Arg19Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3087473	GRCh38	Chromosome 1, 52402167: 52402167
46	ORC1	NM_004153.3(ORC1): c.57G> C (p.Arg19Ser)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs3087473	GRCh37	Chromosome 1, 52867839: 52867839
47	ORC6; VPS35	NM_014321.3(ORC6): c.-47G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144065502	GRCh37	Chromosome 16, 46723571: 46723571
48	ORC6; VPS35	NM_014321.3(ORC6): c.-47G> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144065502	GRCh38	Chromosome 16, 46689659: 46689659
49	ORC6; VPS35	NM_014321.3(ORC6): c.-20T> C	single nucleotide variant	Benign	rs33994299	GRCh37	Chromosome 16, 46723598: 46723598
50	ORC6; VPS35	NM_014321.3(ORC6): c.-20T> C	single nucleotide variant	Benign	rs33994299	GRCh38	Chromosome 16, 46689686: 46689686

Sources

Expression for Meier-Gorlin Syndrome 1

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

Sources

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

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	13.13	ATR ATRIP CDC45 CDC6 CDT1 CEP152
2	Cell Cycle Checkpoints ⁶⁶ Show member pathways G2/M Checkpoints ⁶⁶	12.49	ATR ATRIP CDC45 CDC6 MCM5 ORC1
3	Mitotic G1-G1/S phases ⁶⁶ Show member pathways G1 to S cell cycle control ¹ G1/S Transition ⁶⁶	12.47	CDC45 CDC6 CDT1 MCM5 ORC1 ORC4
4	DNA Damage ⁴	12.33	ATR ATRIP CDC45 CDC6 CDT1 GMNN
5	Cell cycle ¹ ³⁷	12.27	ATR CDC45 CDC6 MCM5 ORC1 ORC4
6	E2F mediated regulation of DNA replication ⁶⁶ Show member pathways Activation of ATR in response to replication stress ⁶⁶ Activation of the pre-replicative complex ⁶⁶ Assembly of the ORC complex at the origin of replication ⁶⁶ Cell cycle Start of DNA replication in early S phase ²² DNA Replication ¹ E2F-enabled inhibition of pre-replication complex formation ⁶⁶ G1/S-Specific Transcription ⁶⁶ Inhibition of replication initiation of damaged DNA by RB1/E2F1 ⁶⁶	11.69	ATR ATRIP CDC45 CDC6 CDT1 GMNN
7	Retinoblastoma (RB) in Cancer ¹	11.58	CDC45 CDT1 ORC1
8	Cell cycle_Role of APC in cell cycle regulation ²²	11.34	CDC6 GMNN ORC1
9	Cell Cycle Control of Chromosomal Replication ⁶⁴	11.13	CDC45 CDC6 CDT1 MCM5 ORC1 ORC4

Sources

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	nuclear chromosome, telomeric region	GO:0000784	9.56	ATR MCM5 ORC1 ORC4
3	centriole	GO:0005814	9.5	CEP152 CEP63 PCNT
4	nuclear origin of replication recognition complex	GO:0005664	9.13	ORC1 ORC4 ORC6
5	origin recognition complex	GO:0000808	8.8	ORC1 ORC4 ORC6
6	nucleus	GO:0005634	10.15	ATR ATRIP CDC45 CDC6 CDT1 GMNN

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell cycle	GO:0007049	9.93	CDC45 CDC6 CDT1 CEP63 GMNN MCM5
2	cell division	GO:0051301	9.87	CDC6 CDT1 CEP63 MCM5
3	mitotic cell cycle	GO:0000278	9.75	CDC6 CDT1 ORC1
4	G2/M transition of mitotic cell cycle	GO:0000086	9.73	CEP152 CEP63 PCNT
5	ciliary basal body-plasma membrane docking	GO:0097711	9.71	CEP152 CEP63 PCNT
6	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.67	CEP152 CEP63 PCNT
7	DNA replication initiation	GO:0006270	9.63	CDC45 CDC6 MCM5 ORC1 ORC4 ORC6
8	DNA damage checkpoint	GO:0000077	9.61	ATR ATRIP CEP63
9	regulation of transcription involved in G1/S transition of mitotic cell cycle	GO:0000083	9.56	CDC45 CDC6 CDT1 ORC1
10	G1/S transition of mitotic cell cycle	GO:0000082	9.56	CDC45 CDC6 CDT1 GMNN MCM5 ORC1
11	centriole replication	GO:0007099	9.55	CEP152 CEP63
12	negative regulation of DNA replication	GO:0008156	9.54	ATR CDC6 GMNN
13	positive regulation of chromatin binding	GO:0035563	9.52	CDT1 GMNN
14	mitotic DNA replication checkpoint	GO:0033314	9.51	CDC6 ORC1
15	DNA replication checkpoint	GO:0000076	9.5	CDC45 CDC6 CDT1
16	de novo centriole assembly involved in multi-ciliated epithelial cell differentiation	GO:0098535	9.48	CEP152 CEP63
17	DNA replication preinitiation complex assembly	GO:0071163	9.4	CDT1 GMNN
18	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	9.86	ATR CDT1 KAT6B LMX1B MCM5 ORC1
2	chromatin binding	GO:0003682	9.62	CDC45 CDT1 GMNN ORC1
3	nucleotide binding	GO:0000166	9.35	ATR CDC6 MCM5 ORC1 ORC4
4	DNA replication origin binding	GO:0003688	9.1	CDC45 CDC6 MCM5 ORC1 ORC4 ORC6
5	protein binding	GO:0005515	10.06	ASPH ATR ATRIP CDC45 CDC6 CDT1

Sources

Sources for Meier-Gorlin Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

¹⁰ dbSNP

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Meier-Gorlin Syndrome 1 (MGORS1)

Aliases & Classifications for Meier-Gorlin Syndrome 1

MalaCards integrated aliases for Meier-Gorlin Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Meier-Gorlin Syndrome 1

Related Diseases for Meier-Gorlin Syndrome 1

Diseases in the Meier-Gorlin Syndrome 1 family:

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

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

Symptoms & Phenotypes for Meier-Gorlin Syndrome 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Meier-Gorlin Syndrome 1:

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

Drugs & Therapeutics for Meier-Gorlin Syndrome 1

Cochrane evidence based reviews: meier-gorlin syndrome

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Genetic tests related to Meier-Gorlin Syndrome 1:

Anatomical Context for Meier-Gorlin Syndrome 1

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ClinVar genetic disease variations for Meier-Gorlin Syndrome 1:

Expression for Meier-Gorlin Syndrome 1

Pathways for Meier-Gorlin Syndrome 1

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

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

GO Terms for Meier-Gorlin Syndrome 1

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

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

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

Sources for Meier-Gorlin Syndrome 1