MGORS1
MCID: MRG008
MIFTS: 45

Meier-Gorlin Syndrome 1 (MGORS1) malady

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

Aliases & Classifications for Meier-Gorlin Syndrome 1

Aliases & Descriptions for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 54 24 66 29 13
Meier-Gorlin Syndrome 12 50 24 25 56 29 42 14
Ear, Patella, Short Stature Syndrome 50 24 25 69
Microtia, Absent Patellae, Micrognathia Syndrome 50 25
Ear-Patella-Short Stature Syndrome 12 56
Microtia Absent Patellae Micrognathia Syndrome 66
Ear Patella Short Stature Syndrome 66
Mgors1 66
Eps 66

Characteristics:

Orphanet epidemiological data:

56
ear-patella-short stature syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

HPO:

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


Classifications:



External Ids:

OMIM 54 224690
Disease Ontology 12 DOID:0060306
SNOMED-CT 64 703508009
Orphanet 56 ORPHA2554
UMLS via Orphanet 70 C1868684
MESH via Orphanet 43 C538012
ICD10 via Orphanet 34 Q87.1
MedGen 40 C1868684
UMLS 69 C1868684

Summaries for Meier-Gorlin Syndrome 1

OMIM : 54 The Meier-Gorlin syndrome is a rare autosomal recessive disorder characterized by severe intrauterine and postnatal... (224690) more...

MalaCards based summary : Meier-Gorlin Syndrome 1, also known as meier-gorlin syndrome, is related to meier-gorlin syndrome 3 and meier-gorlin syndrome 2, and has symptoms including respiratory distress, joint laxity and low-set ears. 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, Mitotic and Cell Cycle Checkpoints. Affiliated tissues include bone, skin and breast, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and embryo

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 : 50 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. last updated: 5/14/2012

UniProtKB/Swiss-Prot : 66 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

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 by clinical synopsis from OMIM:

224690

Clinical features from OMIM:

224690

Human phenotypes related to Meier-Gorlin Syndrome 1:

32 (show top 50) (show all 60)
id Description HPO Frequency HPO Source Accession
1 respiratory distress 32 HP:0002098
2 joint laxity 32 HP:0001388
3 low-set ears 32 HP:0000369
4 frontal bossing 32 HP:0002007
5 genu valgum 32 HP:0002857
6 high palate 32 HP:0000218
7 intellectual disability 32 HP:0001249
8 failure to thrive 32 HP:0001508
9 hearing impairment 32 HP:0000365
10 delayed skeletal maturation 32 HP:0002750
11 pectus carinatum 32 HP:0000768
12 microtia 32 HP:0008551
13 microcephaly 32 HP:0000252
14 gastroesophageal reflux 32 HP:0002020
15 feeding difficulties in infancy 32 HP:0008872
16 cleft palate 32 HP:0000175
17 micrognathia 32 HP:0000347
18 thick lower lip vermilion 32 HP:0000179
19 strabismus 32 HP:0000486
20 short palm 32 HP:0004279
21 thin skin 32 HP:0000963
22 microdontia 32 HP:0000691
23 cryptorchidism 32 HP:0000028
24 thin ribs 32 HP:0000883
25 intrauterine growth retardation 32 HP:0001511
26 clinodactyly of the 5th finger 32 HP:0004209
27 small hand 32 HP:0200055
28 hypoplasia of the maxilla 32 HP:0000327
29 narrow mouth 32 HP:0000160
30 elbow dislocation 32 HP:0003042
31 talipes equinovarus 32 HP:0001762
32 genu varum 32 HP:0002970
33 blepharophimosis 32 HP:0000581
34 abnormality of pelvic girdle bone morphology 32 HP:0002644
35 long eyelashes 32 HP:0000527
36 hemivertebrae 32 HP:0002937
37 cutaneous finger syndactyly 32 HP:0010554
38 atresia of the external auditory canal 32 HP:0000413
39 hypoplastic labia majora 32 HP:0000059
40 aplasia/hypoplasia of the patella 32 HP:0006498
41 micropenis 32 HP:0000054
42 shawl scrotum 32 HP:0000049
43 short palpebral fissure 32 HP:0012745
44 slender long bone 32 HP:0003100
45 hyperconvex nail 32 HP:0001795
46 camptodactyly 32 HP:0012385
47 small for gestational age 32 HP:0001518
48 breast hypoplasia 32 HP:0003187
49 short ribs 32 HP:0000773
50 lateral clavicle hook 32 HP:0000895

UMLS symptoms related to Meier-Gorlin Syndrome 1:


joint laxity

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 GMNN MCM2 ORC1 ATR CDC45 CDC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 GMNN MCM2 ORC1 ATR CDC45 CDC6
3 Decreased hepcidin::fluc mRNA expression GR00253-A 9.7 CEP63 MCM2 ASPH ATR CDC45 CDC6
4 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 9.26 CDC45 CDC6 CDT1 CEP152

MGI Mouse Phenotypes related to Meier-Gorlin Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.17 ATR BMP5 CDC45 CEP152 GMNN LMX1B

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:

id Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 29 24
2 Meier-Gorlin Syndrome 1 29 24 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

39
Bone, Skin, Breast

Publications for Meier-Gorlin Syndrome 1

Variations for Meier-Gorlin Syndrome 1

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

66
id 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
id 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.266T> C (p.Phe89Ser) single nucleotide variant Pathogenic rs387906827 GRCh37 Chromosome 1, 52863493: 52863493
3 ORC1 NM_004153.3(ORC1): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic/Likely pathogenic rs143141689 GRCh37 Chromosome 1, 52863445: 52863445
4 ORC1 NM_004153.3(ORC1): c.2159G> A (p.Arg720Gln) single nucleotide variant Pathogenic rs387906828 GRCh37 Chromosome 1, 52841246: 52841246
5 ORC1 ORC1, 2-BP DEL/1-BP INS, NT2000 indel Pathogenic
6 ORC1 ORC1, IVS9, G-A, -2 single nucleotide variant Pathogenic
7 ORC1 NM_004153.3(ORC1): c.1996C> T (p.Arg666Trp) single nucleotide variant Pathogenic rs201253919 GRCh37 Chromosome 1, 52849109: 52849109
8 GMNN NM_015895.4(GMNN): c.16A> T (p.Lys6Ter) single nucleotide variant Pathogenic rs864309486 GRCh37 Chromosome 6, 24777490: 24777490
9 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh37 Chromosome 6, 24777509: 24777512
10 GMNN NM_015895.4(GMNN): c.50A> G (p.Lys17Arg) single nucleotide variant Pathogenic/Likely pathogenic rs864309488 GRCh37 Chromosome 6, 24777524: 24777524

Expression for Meier-Gorlin Syndrome 1

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

Pathways for Meier-Gorlin Syndrome 1

GO Terms for Meier-Gorlin Syndrome 1

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.93 ATR ATRIP CDC45 CDC6 CDT1 CEP152
2 centrosome GO:0005813 9.71 CDC45 CEP152 CEP63 PCNT
3 nuclear chromosome, telomeric region GO:0000784 9.56 ATR MCM2 ORC1 ORC4
4 centriole GO:0005814 9.5 CEP152 CEP63 PCNT
5 origin recognition complex GO:0000808 9.13 ORC1 ORC4 ORC6
6 nuclear origin of replication recognition complex GO:0005664 8.92 MCM2 ORC1 ORC4 ORC6
7 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 15)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.91 ATR CDC45 CDC6 CDT1 CEP63 GMNN
2 G2/M transition of mitotic cell cycle GO:0000086 9.72 CEP152 CEP63 PCNT
3 ciliary basal body docking GO:0097711 9.7 CEP152 CEP63 PCNT
4 G1/S transition of mitotic cell cycle GO:0000082 9.7 CDC45 CDC6 CDT1 MCM2 ORC1 ORC4
5 DNA damage checkpoint GO:0000077 9.63 ATR ATRIP CEP63
6 negative regulation of DNA replication GO:0008156 9.58 ATR CDC6 GMNN
7 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 CDC45 CDC6 CDT1 ORC1
8 centriole replication GO:0007099 9.54 CEP152 CEP63
9 positive regulation of chromatin binding GO:0035563 9.51 CDT1 GMNN
10 DNA replication checkpoint GO:0000076 9.5 CDC45 CDC6 CDT1
11 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.49 CEP152 CEP63
12 positive regulation of DNA-dependent DNA replication GO:2000105 9.48 BMP5 CDT1
13 DNA replication preinitiation complex assembly GO:0071163 9.43 CDT1 GMNN
14 DNA replication initiation GO:0006270 9.43 CDC45 CDC6 MCM2 ORC1 ORC4 ORC6
15 DNA replication GO:0006260 9.28 ATR ATRIP CDC45 CDC6 CDT1 MCM2

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 ATR CDT1 KAT6B LMX1B MCM2 ORC1
2 protein binding GO:0005515 9.86 ASPH ATR ATRIP CDC45 CDC6 CDT1
3 chromatin binding GO:0003682 9.62 CDC45 CDT1 GMNN ORC1
4 nucleotide binding GO:0000166 9.55 ATR CDC6 MCM2 ORC1 ORC4
5 DNA replication origin binding GO:0003688 8.92 CDC45 MCM2 ORC4 ORC6

Sources for Meier-Gorlin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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