MCID: MRG008
MIFTS: 47

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 54 24 71 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 71
Ear Patella Short Stature Syndrome 71
Mgors1 71
Eps 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 : 71 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 meier-gorlin syndrome 3 and meier-gorlin syndrome 2, and has symptoms including failure to thrive, long eyelashes and strabismus. 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, breast and skin, and related phenotype is Synthetic lethal with MLN4924 (a NAE inhibitor).

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

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.

OMIM : 54
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)

Disease Ontology : 12 An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.

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:

54

Growth- Height:
short stature
birth length less than 3rd percentile

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

Skin Nails & Hair- Hair:
long eyelashes

Abdomen- Gastroin testinal:
feeding problems
gastroesophageal reflux

Head And Neck- Head:
microcephaly
small anterior fontanel

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

Growth- Weight:
birth weight less than 3rd percentile

Respiratory:
respiratory distress (neonate)

Chest- Ribs Sternum Clavicles And Scapulae:
pectus carinatum
lack of sternal ossification
slender ribs
flat or absent glenoid fossae
hooked clavicles
more
Genitourinary- External Genitalia Female:
clitoromegaly
hypoplastic labia minora
hypoplastic labia majora

Skeletal- Spine:
hemivertebrae

Skeletal- Limbs:
aplastic or hypoplastic patellae
elbow dislocation
epiphyseal flattening
slender long bones
genu valgum
more
Skeletal- Feet:
cutaneous syndactyly (2nd-3rd, 4th-5th)
talipes equinovarus

Skin Nails & Hair- Nails:
hyperconvex nails

Growth- Other:
failure to thrive
intrauterine growth retardation

Skeletal:
joint contractures
delayed bone age
joint laxity

Head And Neck- Eyes:
long eyelashes
strabismus
short palpebral fissures

Neurologic- Central Nervous System:
mental retardation

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

Genitourinary- External Genitalia Male:
micropenis
shawl scrotum

Head And Neck- Teeth:
small teeth

Respiratory- Lung:
emphysema, congenital (in some patients)

Chest- Breasts:
breast hypoplasia

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

Skeletal- Hands:
fifth finger clinodactyly
small hands
camptodactyly

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

Prenatal Manifestations- Delivery:
breech presentation


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 failure to thrive 32 HP:0001508
2 long eyelashes 32 HP:0000527
3 strabismus 32 HP:0000486
4 microcephaly 32 HP:0000252
5 low-set ears 32 HP:0000369
6 micrognathia 32 HP:0000347
7 micropenis 32 HP:0000054
8 thin ribs 32 HP:0000883
9 joint laxity 32 HP:0001388
10 intrauterine growth retardation 32 HP:0001511
11 cleft palate 32 HP:0000175
12 frontal bossing 32 HP:0002007
13 respiratory distress 32 HP:0002098
14 birth length less than 3rd percentile 32 HP:0003561
15 pectus carinatum 32 HP:0000768
16 short ribs 32 HP:0000773
17 breast hypoplasia 32 HP:0003187
18 gastroesophageal reflux 32 HP:0002020
19 shawl scrotum 32 HP:0000049
20 hypoplastic labia minora 32 HP:0000064
21 hypoplastic labia majora 32 HP:0000059
22 cryptorchidism 32 HP:0000028
23 hemivertebrae 32 HP:0002937
24 elbow dislocation 32 HP:0003042
25 genu valgum 32 HP:0002857
26 genu varum 32 HP:0002970
27 camptodactyly 32 HP:0012385
28 talipes equinovarus 32 HP:0001762
29 thin skin 32 HP:0000963
30 breech presentation 32 HP:0001623
31 intellectual disability 32 HP:0001249
32 high palate 32 HP:0000218
33 blepharophimosis 32 HP:0000581
34 small anterior fontanelle 32 HP:0000237
35 feeding difficulties in infancy 32 HP:0008872
36 small for gestational age 32 HP:0001518
37 microtia 32 HP:0008551
38 microdontia 32 HP:0000691
39 delayed skeletal maturation 32 HP:0002750
40 clitoral hypertrophy 32 HP:0008665
41 hearing impairment 32 HP:0000365
42 absent sternal ossification 32 HP:0006628
43 thick lower lip vermilion 32 HP:0000179
44 short palpebral fissure 32 HP:0012745
45 narrow mouth 32 HP:0000160
46 small hand 32 HP:0200055
47 flat glenoid fossa 32 HP:0000911
48 short palm 32 HP:0004279
49 clinodactyly of the 5th finger 32 HP:0004209
50 hypoplasia of the maxilla 32 HP:0000327

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 9.7 ATR CDC45 CDC6 CDT1 GMNN ORC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 CDC45 CDC6 CDT1 GMNN ORC1 ATR
3 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 9.46 CDC45 CDC6 CDT1 CEP152
4 Increased Nanog expression GR00371-A-1 9.26 GMNN
5 Increased Nanog expression GR00371-A-3 9.26 CDC6 CEP63 GMNN

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, Breast, Skin

Publications for Meier-Gorlin Syndrome 1

Variations for Meier-Gorlin Syndrome 1

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

71
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 GRCh38 Chromosome 6, 24777262: 24777262
9 GMNN NM_015895.4(GMNN): c.35_38delTCAA (p.Ile12Lysfs) deletion Pathogenic rs864309487 GRCh38 Chromosome 6, 24777281: 24777284
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 9.9 ATR ATRIP CDC45 CDC6 CDT1 CEP152
2 centrosome GO:0005813 9.67 CDC45 CEP152 CEP63 PCNT
3 nuclear chromosome, telomeric region GO:0000784 9.5 ATR ORC1 ORC4
4 centriole GO:0005814 9.43 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 15)
id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.95 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 9.69 CEP152 CEP63 PCNT
4 G1/S transition of mitotic cell cycle GO:0000082 9.63 CDC45 CDC6 CDT1 ORC1 ORC4 ORC6
5 DNA damage checkpoint GO:0000077 9.61 ATR ATRIP CEP63
6 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 CDC45 CDC6 CDT1 ORC1
7 centriole replication GO:0007099 9.54 CEP152 CEP63
8 negative regulation of DNA replication GO:0008156 9.54 ATR CDC6 GMNN
9 positive regulation of chromatin binding GO:0035563 9.52 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 9.46 BMP5 CDT1
13 DNA replication preinitiation complex assembly GO:0071163 9.4 CDT1 GMNN
14 DNA replication initiation GO:0006270 9.35 CDC45 CDC6 ORC1 ORC4 ORC6
15 DNA replication GO:0006260 9.23 ATR ATRIP CDC45 CDC6 CDT1 ORC1

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 ASPH ATR ATRIP CDC45 CDC6 CDT1
2 chromatin binding GO:0003682 9.56 CDC45 CDT1 GMNN ORC1
3 nucleotide binding GO:0000166 9.46 ATR CDC6 ORC1 ORC4
4 DNA replication origin binding GO:0003688 8.8 CDC45 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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