MGORS2
MCID: MRG009
MIFTS: 33

Meier-Gorlin Syndrome 2 (MGORS2)

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

Aliases & Classifications for Meier-Gorlin Syndrome 2

MalaCards integrated aliases for Meier-Gorlin Syndrome 2:

Name: Meier-Gorlin Syndrome 2 57 12 72 29 13 6 15 70
Mgors2 57 72
Meier-Gorlin Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
meier-gorlin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 2

UniProtKB/Swiss-Prot : 72 Meier-Gorlin syndrome 2: 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 2, also known as mgors2, is related to nemaline myopathy 2 and mowat-wilson syndrome. An important gene associated with Meier-Gorlin Syndrome 2 is ORC4 (Origin Recognition Complex Subunit 4). Affiliated tissues include bone and breast, and related phenotypes are aplasia/hypoplasia of the patella and failure to thrive

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23.

More information from OMIM: 613800 PS224690

Related Diseases for Meier-Gorlin Syndrome 2

Graphical network of the top 20 diseases related to Meier-Gorlin Syndrome 2:



Diseases related to Meier-Gorlin Syndrome 2

Symptoms & Phenotypes for Meier-Gorlin Syndrome 2

Human phenotypes related to Meier-Gorlin Syndrome 2:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 aplasia/hypoplasia of the patella 31 occasional (7.5%) HP:0006498
2 failure to thrive 31 HP:0001508
3 delayed skeletal maturation 31 HP:0002750
4 microtia 31 HP:0008551
5 microcephaly 31 HP:0000252
6 smooth philtrum 31 HP:0000319
7 gastroesophageal reflux 31 HP:0002020
8 intrauterine growth retardation 31 HP:0001511
9 micrognathia 31 HP:0000347
10 slender long bone 31 HP:0003100
11 joint hypermobility 31 HP:0001382
12 dolichocephaly 31 HP:0000268
13 narrow mouth 31 HP:0000160
14 high pitched voice 31 HP:0001620
15 tracheomalacia 31 HP:0002779
16 underdeveloped nasal alae 31 HP:0000430
17 hypoplastic labia majora 31 HP:0000059
18 feeding difficulties 31 HP:0011968
19 camptodactyly 31 HP:0012385
20 breast hypoplasia 31 HP:0003187
21 clitoral hypertrophy 31 HP:0008665
22 bronchomalacia 31 HP:0002780
23 birth length less than 3rd percentile 31 HP:0003561

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

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

Head And Neck Face:
micrognathia
mandibular hypoplasia
flat philtrum

Respiratory Airways:
tracheomalacia
bronchomalacia

Head And Neck Mouth:
small mouth

Head And Neck Ears:
simple ears
microtia, bilateral
small external auditory meatus

Skeletal Limbs:
slender long bones
absent or hypoplastic patellae (in some patients)
hyperextensible joints, especially elbows and knees

Head And Neck Nose:
hypoplastic nasal alae (slight)

Skeletal Hands:
camptodactyly, distal interphalangeal, of second, third, and fourth fingers
camptodactyly, proximal interphalangeal, of fifth fingers

Head And Neck Head:
microcephaly
dolichocephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems in early infancy

Genitourinary External Genitalia Female:
clitoromegaly
hypoplastic labia majora, mild

Chest Breasts:
breast hypoplasia

Skeletal:
delayed bone age

Voice:
high-pitched voice

Growth Weight:
birth weight less than 3rd percentile

Respiratory:
respiratory problems

Clinical features from OMIM®:

613800 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meier-Gorlin Syndrome 2

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 2

Genetic Tests for Meier-Gorlin Syndrome 2

Genetic tests related to Meier-Gorlin Syndrome 2:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 2 29 ORC4

Anatomical Context for Meier-Gorlin Syndrome 2

MalaCards organs/tissues related to Meier-Gorlin Syndrome 2:

40
Bone, Breast

Publications for Meier-Gorlin Syndrome 2

Articles related to Meier-Gorlin Syndrome 2:

# Title Authors PMID Year
1
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 6 57
21358632 2011
2
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. 6 57
21358631 2011
3
Meier-Gorlin syndrome: report of eight additional cases and review. 6 57
11477602 2001

Variations for Meier-Gorlin Syndrome 2

ClinVar genetic disease variations for Meier-Gorlin Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ORC4 NM_181742.3(ORC4):c.(-18+1_-17-1)_(762+1_773-1)del Deletion Pathogenic 30297 GRCh37: 2:148701092-148778176
GRCh38: 2:147943523-148020607
2 ORC4 NM_181741.4(ORC4):c.1226del (p.Thr409fs) Deletion Pathogenic 211805 rs797045852 GRCh37: 2:148693164-148693164
GRCh38: 2:147935595-147935595
3 ORC4 NM_181741.4(ORC4):c.1A>G (p.Met1Val) SNV Pathogenic 225427 rs1085307083 GRCh37: 2:148733527-148733527
GRCh38: 2:147975958-147975958
4 ORC4 NM_181741.4(ORC4):c.870_873dup (p.Ala292fs) Duplication Pathogenic 30296 rs797044461 GRCh37: 2:148696793-148696794
GRCh38: 2:147939224-147939225
5 ORC4 NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) SNV Likely pathogenic 30295 rs387906847 GRCh37: 2:148710009-148710009
GRCh38: 2:147952440-147952440
6 ORC4 NM_181741.4(ORC4):c.287A>G (p.Gln96Arg) SNV Uncertain significance 159484 rs138317624 GRCh37: 2:148716374-148716374
GRCh38: 2:147958805-147958805
7 ORC4 NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) SNV Benign 159483 rs2307394 GRCh37: 2:148716428-148716428
GRCh38: 2:147958859-147958859

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 ORC4 p.Tyr174Cys VAR_065486 rs387906847

Expression for Meier-Gorlin Syndrome 2

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 2.

Pathways for Meier-Gorlin Syndrome 2

GO Terms for Meier-Gorlin Syndrome 2

Biological processes related to Meier-Gorlin Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neurotransmitter secretion GO:0046928 8.96 PRKN FMR1
2 positive regulation of proteasomal protein catabolic process GO:1901800 8.62 PRKN FMR1

Molecular functions related to Meier-Gorlin Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G-quadruplex RNA binding GO:0002151 8.62 FMR1 AFF2

Sources for Meier-Gorlin Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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