MCID: MRG008
MIFTS: 42

Meier-Gorlin Syndrome 1

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

Aliases & Classifications for Meier-Gorlin Syndrome 1

MalaCards integrated aliases for Meier-Gorlin Syndrome 1:

Name: Meier-Gorlin Syndrome 1 53 71 28 13
Meier-Gorlin Syndrome 53 12 49 24 55 36 28 41 14
Ear, Patella, Short Stature Syndrome 53 49 24 69
Microtia, Absent Patellae, Micrognathia Syndrome 53 49 24
Ear-Patella-Short Stature Syndrome 12 55
Mgors1 53 71
Eps 53 71
Microtia Absent Patellae Micrognathia Syndrome 71
Ear, Patella, Short Stature Syndrome; Eps 53
Ear Patella Short Stature Syndrome 71

Characteristics:

Orphanet epidemiological data:

55
ear-patella-short stature syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
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 respiratory distress, low-set ears and abnormality of epiphysis morphology. An important gene associated with Meier-Gorlin Syndrome 1 is ORC1 (Origin Recognition Complex Subunit 1), and among its related pathways/superpathways is Cell cycle. Affiliated tissues include bone and skin.

OMIM : 53 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)

NIH Rare Diseases : 49 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. Last updated: 5/14/2012

Genetics Home Reference : 24 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.

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

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 11)
# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 3 12.7
2 meier-gorlin syndrome 2 12.6
3 meier-gorlin syndrome 4 12.6
4 meier-gorlin syndrome 5 12.6
5 meier-gorlin syndrome 6 12.6
6 meier-gorlin syndrome 7 12.6
7 meier-gorlin syndrome 8 12.6
8 dwarfism 10.4
9 wolf-hirschhorn syndrome 10.1
10 craniosynostosis 10.1
11 cerebritis 10.1

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:

53
Skeletal:
joint laxity
delayed bone age
joint contractures

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 Gastroin testinal:
gastroesophageal reflux
feeding problems

Head And Neck Eyes:
strabismus
long eyelashes
short palpebral fissures

Genitourinary Internal Genitalia Male:
cryptorchidism

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 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 RibsSternum 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 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:

55 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory distress 55 31 frequent (33%) Frequent (79-30%) HP:0002098
2 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
3 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
4 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
5 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
6 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
7 global developmental delay 55 31 occasional (7.5%) Occasional (29-5%) HP:0001263
8 delayed skeletal maturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002750
9 thick vermilion border 55 31 occasional (7.5%) Occasional (29-5%) HP:0012471
10 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
11 cleft palate 55 31 Occasional (29-5%) HP:0000175
12 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
13 feeding difficulties 55 31 hallmark (90%) Very frequent (99-80%) HP:0011968
14 retrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000278
15 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
16 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
17 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
18 specific learning disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001328
19 high, narrow palate 55 31 frequent (33%) Frequent (79-30%) HP:0002705
20 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
21 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
22 hypoplasia of the maxilla 55 31 frequent (33%) Frequent (79-30%) HP:0000327
23 respiratory failure 55 31 frequent (33%) Frequent (79-30%) HP:0002878
24 narrow mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000160
25 elbow dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0003042
26 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
27 hypoplasia of penis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008736
28 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
29 craniosynostosis 55 31 frequent (33%) Frequent (79-30%) HP:0001363
30 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
31 atresia of the external auditory canal 55 31 hallmark (90%) Very frequent (99-80%) HP:0000413
32 epispadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000039
33 bifid uvula 55 31 occasional (7.5%) Occasional (29-5%) HP:0000193
34 hypoplastic labia majora 55 31 frequent (33%) Frequent (79-30%) HP:0000059
35 submucous cleft hard palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000176
36 breast aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0100783
37 slender long bone 55 31 hallmark (90%) Very frequent (99-80%) HP:0003100
38 posteriorly rotated ears 55 31 frequent (33%) Frequent (79-30%) HP:0000358
39 patellar aplasia 55 31 frequent (33%) Frequent (79-30%) HP:0006443
40 clitoral hypoplasia 55 31 frequent (33%) Frequent (79-30%) HP:0000060
41 mandibular aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0009939
42 aplastic clavicles 55 31 frequent (33%) Frequent (79-30%) HP:0006660
43 clitoral hypertrophy 55 31 frequent (33%) Frequent (79-30%) HP:0008665
44 anotia 55 31 hallmark (90%) Very frequent (99-80%) HP:0009892
45 microtia, third degree 55 31 hallmark (90%) Very frequent (99-80%) HP:0011267
46 hypoplastic labia minora 55 31 frequent (33%) Frequent (79-30%) HP:0000064
47 dyspnea 55 Frequent (79-30%)
48 joint laxity 31 HP:0001388
49 frontal bossing 31 HP:0002007
50 genu valgum 31 HP:0002857

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 28
2 Meier-Gorlin Syndrome 1 28 ORC1

Anatomical Context for Meier-Gorlin Syndrome 1

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

38
Bone, Skin

Publications for Meier-Gorlin Syndrome 1

Articles related to Meier-Gorlin Syndrome 1:

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

71
# 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
# 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

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

36
# Name Kegg Source Accession
1 Cell cycle hsa04110

GO Terms for Meier-Gorlin Syndrome 1

Sources for Meier-Gorlin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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