MGORS3
MCID: MRG010
MIFTS: 30

Meier-Gorlin Syndrome 3 (MGORS3)

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

Aliases & Classifications for Meier-Gorlin Syndrome 3

MalaCards integrated aliases for Meier-Gorlin Syndrome 3:

Name: Meier-Gorlin Syndrome 3 57 12 72 29 13 6 15 70
Mgors3 57 72
Meier-Gorlin Syndrome, Type 3 39

Characteristics:

OMIM®:

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


HPO:

31
meier-gorlin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 3

UniProtKB/Swiss-Prot : 72 Meier-Gorlin syndrome 3: 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 3, also known as mgors3, is related to meier-gorlin syndrome 1 and parkinson disease 17. An important gene associated with Meier-Gorlin Syndrome 3 is ORC6 (Origin Recognition Complex Subunit 6). Affiliated tissues include bone and breast, and related phenotypes are delayed speech and language development and motor delay

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11.

More information from OMIM: 613803 PS224690

Related Diseases for Meier-Gorlin Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meier-gorlin syndrome 1 10.2
2 parkinson disease 17 9.5 VPS35 ORC6

Symptoms & Phenotypes for Meier-Gorlin Syndrome 3

Human phenotypes related to Meier-Gorlin Syndrome 3:

31 (show all 42)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 occasional (7.5%) HP:0000750
2 motor delay 31 occasional (7.5%) HP:0001270
3 failure to thrive 31 HP:0001508
4 delayed skeletal maturation 31 HP:0002750
5 microtia 31 HP:0008551
6 microcephaly 31 HP:0000252
7 gastroesophageal reflux 31 HP:0002020
8 thick lower lip vermilion 31 HP:0000179
9 short thorax 31 HP:0010306
10 cryptorchidism 31 HP:0000028
11 intrauterine growth retardation 31 HP:0001511
12 low-set ears 31 HP:0000369
13 slender long bone 31 HP:0003100
14 talipes equinovarus 31 HP:0001762
15 dyspnea 31 HP:0002094
16 hypoplasia of the maxilla 31 HP:0000327
17 downslanted palpebral fissures 31 HP:0000494
18 narrow mouth 31 HP:0000160
19 micropenis 31 HP:0000054
20 laryngomalacia 31 HP:0001601
21 prominent nasal bridge 31 HP:0000426
22 hypospadias 31 HP:0000047
23 recurrent pneumonia 31 HP:0006532
24 narrow chest 31 HP:0000774
25 genu varum 31 HP:0002970
26 microretrognathia 31 HP:0000308
27 coxa vara 31 HP:0002812
28 triangular face 31 HP:0000325
29 tracheomalacia 31 HP:0002779
30 scrotal hypoplasia 31 HP:0000046
31 aplasia/hypoplasia of the patella 31 HP:0006498
32 feeding difficulties 31 HP:0011968
33 posteriorly rotated ears 31 HP:0000358
34 sparse axillary hair 31 HP:0002215
35 sparse pubic hair 31 HP:0002225
36 breast hypoplasia 31 HP:0003187
37 short ribs 31 HP:0000773
38 hypoplastic labia minora 31 HP:0000064
39 clitoral hypertrophy 31 HP:0008665
40 bronchomalacia 31 HP:0002780
41 birth length less than 3rd percentile 31 HP:0003561
42 absent sternal ossification 31 HP:0006628

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

Chest Ribs Sternum Clavicles And Scapulae:
short thorax
narrow chest
short ribs
lack of sternal ossification

Head And Neck Ears:
low-set ears
posteriorly rotated ears
microtia, bilateral
ears abnormally formed

Skeletal Limbs:
genu varum
coxa vara
absent or hypoplastic patellae
slender long bones
abnormal humeral epiphyses with flat metaphyses
more
Respiratory Airways:
tracheomalacia
bronchomalacia

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal:
delayed bone age

Skeletal Feet:
club feet

Growth Weight:
birth weight less than 3rd percentile

Genitourinary External Genitalia Female:
hypertrophic clitoris
hypoplastic labia minora/majora

Skeletal Hands:
clinodactyly, fifth finger

Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems in early infancy

Genitourinary External Genitalia Male:
cryptorchidism
micropenis
hypospadias
hypoplastic scrotum

Respiratory Larynx:
laryngomalacia

Head And Neck Face:
microretrognathia
triangular face
maxillary hypoplasia
mandibular hypoplasia

Chest Breasts:
breast hypoplasia

Head And Neck Mouth:
small mouth
full lips

Head And Neck Nose:
high nasal bridge
convex nasal profile

Respiratory Lung:
pulmonary infections, recurrent
dyspnea secondary to thorax morphology

Neurologic Central Nervous System:
delayed motor development (in some patients)
delayed speech development (in some patients)

Skeletal Skull:
frontal circular lacuna

Skin Nails Hair Hair:
absent or sparse axillary hair
absent or sparse pubic hair

Clinical features from OMIM®:

613803 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meier-Gorlin Syndrome 3

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 3

Genetic Tests for Meier-Gorlin Syndrome 3

Genetic tests related to Meier-Gorlin Syndrome 3:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 3 29 ORC6

Anatomical Context for Meier-Gorlin Syndrome 3

MalaCards organs/tissues related to Meier-Gorlin Syndrome 3:

40
Bone, Breast

Publications for Meier-Gorlin Syndrome 3

Articles related to Meier-Gorlin Syndrome 3:

# Title Authors PMID Year
1
Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. 57 6 61
25691413 2015
2
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. 57 6
22333897 2012
3
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. 6 57
21358632 2011
4
A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features. 57 6
17256795 2007
5
Clinical identification of a human equivalent to the short ear (se) murine phenotype. 6 57
7710253 1994

Variations for Meier-Gorlin Syndrome 3

ClinVar genetic disease variations for Meier-Gorlin Syndrome 3:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ORC6 NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) Deletion Pathogenic 30655 rs786205258 GRCh37: 16:46726353-46726354
GRCh38: 16:46692441-46692442
2 ORC6 NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser) SNV Pathogenic 30656 rs387906969 GRCh37: 16:46731433-46731433
GRCh38: 16:46697521-46697521
3 ORC6 NM_014321.4(ORC6):c.598_601AGAA[1] (p.Lys201fs) Microsatellite Pathogenic 253274 rs879255692 GRCh37: 16:46729964-46729967
GRCh38: 16:46696052-46696055
4 ORC6 NM_014321.4(ORC6):c.1A>G (p.Met1Val) SNV Pathogenic 436124 rs777153067 GRCh37: 16:46723618-46723618
GRCh38: 16:46689706-46689706
5 ORC6 NM_014321.4(ORC6):c.263_264del (p.Cys88fs) Microsatellite Pathogenic 1031261 GRCh37: 16:46726359-46726360
GRCh38: 16:46692447-46692448
6 ORC6 NM_014321.4(ORC6):c.2T>C (p.Met1Thr) SNV Pathogenic/Likely pathogenic 253272 rs146795505 GRCh37: 16:46723619-46723619
GRCh38: 16:46689707-46689707
7 ORC6 NM_014321.4(ORC6):c.449+5G>A SNV Pathogenic/Likely pathogenic 253273 rs572314014 GRCh37: 16:46727099-46727099
GRCh38: 16:46693187-46693187
8 ORC6 NM_014321.4(ORC6):c.360-1G>T SNV Likely pathogenic 977909 GRCh37: 16:46727004-46727004
GRCh38: 16:46693092-46693092
9 ORC6 NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn) SNV Likely pathogenic 436123 rs200089121 GRCh37: 16:46726333-46726333
GRCh38: 16:46692421-46692421
10 ORC6 NM_014321.4(ORC6):c.196-1G>A SNV Conflicting interpretations of pathogenicity 632252 rs748927298 GRCh37: 16:46726293-46726293
GRCh38: 16:46692381-46692381
11 ORC6 NM_014321.4(ORC6):c.682C>G (p.Leu228Val) SNV Uncertain significance 885711 GRCh37: 16:46731420-46731420
GRCh38: 16:46697508-46697508
12 ORC6 NM_014321.4(ORC6):c.*598G>A SNV Uncertain significance 319318 rs201605699 GRCh37: 16:46732095-46732095
GRCh38: 16:46698183-46698183
13 ORC6 NM_014321.4(ORC6):c.*594A>G SNV Uncertain significance 319315 rs191163536 GRCh37: 16:46732091-46732091
GRCh38: 16:46698179-46698179
14 ORC6 NM_014321.4(ORC6):c.23G>T (p.Arg8Leu) SNV Uncertain significance 319300 rs754832466 GRCh37: 16:46723640-46723640
GRCh38: 16:46689728-46689728
15 ORC6 NM_014321.4(ORC6):c.199del (p.Tyr67fs) Deletion Uncertain significance 632253 rs1567273817 GRCh37: 16:46726296-46726296
GRCh38: 16:46692384-46692384
16 ORC6 NM_014321.4(ORC6):c.430G>A (p.Ala144Thr) SNV Uncertain significance 884770 GRCh37: 16:46727075-46727075
GRCh38: 16:46693163-46693163
17 ORC6 NM_014321.4(ORC6):c.552G>A (p.Gln184=) SNV Uncertain significance 884771 GRCh37: 16:46729576-46729576
GRCh38: 16:46695664-46695664
18 ORC6 NM_014321.4(ORC6):c.592C>T (p.Arg198Trp) SNV Uncertain significance 884772 GRCh37: 16:46729958-46729958
GRCh38: 16:46696046-46696046
19 ORC6 NM_014321.4(ORC6):c.*10C>G SNV Uncertain significance 885712 GRCh37: 16:46731507-46731507
GRCh38: 16:46697595-46697595
20 ORC6 NM_014321.4(ORC6):c.*170C>G SNV Uncertain significance 885713 GRCh37: 16:46731667-46731667
GRCh38: 16:46697755-46697755
21 ORC6 NM_014321.4(ORC6):c.-19T>C SNV Uncertain significance 886665 GRCh37: 16:46723599-46723599
GRCh38: 16:46689687-46689687
22 ORC6 NM_014321.4(ORC6):c.*452C>T SNV Uncertain significance 886719 GRCh37: 16:46731949-46731949
GRCh38: 16:46698037-46698037
23 ORC6 NM_014321.4(ORC6):c.*517G>A SNV Uncertain significance 886720 GRCh37: 16:46732014-46732014
GRCh38: 16:46698102-46698102
24 ORC6 NM_014321.4(ORC6):c.*524A>G SNV Uncertain significance 886721 GRCh37: 16:46732021-46732021
GRCh38: 16:46698109-46698109
25 ORC6 NM_014321.4(ORC6):c.27A>G (p.Leu9=) SNV Uncertain significance 887920 GRCh37: 16:46723644-46723644
GRCh38: 16:46689732-46689732
26 ORC6 NM_014321.4(ORC6):c.32C>G (p.Pro11Arg) SNV Uncertain significance 887921 GRCh37: 16:46723649-46723649
GRCh38: 16:46689737-46689737
27 ORC6 NM_014321.4(ORC6):c.390A>T (p.Gln130His) SNV Uncertain significance 887922 GRCh37: 16:46727035-46727035
GRCh38: 16:46693123-46693123
28 ORC6 NM_014321.4(ORC6):c.*640G>A SNV Uncertain significance 319324 rs368055096 GRCh37: 16:46732137-46732137
GRCh38: 16:46698225-46698225
29 ORC6 NM_014321.4(ORC6):c.413C>A (p.Pro138Gln) SNV Uncertain significance 319302 rs3218745 GRCh37: 16:46727058-46727058
GRCh38: 16:46693146-46693146
30 ORC6 NM_014321.4(ORC6):c.*232A>T SNV Uncertain significance 319307 rs531879095 GRCh37: 16:46731729-46731729
GRCh38: 16:46697817-46697817
31 ORC6 NM_014321.4(ORC6):c.96G>C (p.Arg32=) SNV Uncertain significance 319301 rs138213159 GRCh37: 16:46724933-46724933
GRCh38: 16:46691021-46691021
32 ORC6 NM_014321.4(ORC6):c.*115T>G SNV Uncertain significance 319305 rs886052014 GRCh37: 16:46731612-46731612
GRCh38: 16:46697700-46697700
33 ORC6 NM_014321.4(ORC6):c.450-4G>A SNV Uncertain significance 319303 rs886052013 GRCh37: 16:46729470-46729470
GRCh38: 16:46695558-46695558
34 ORC6 NM_014321.4(ORC6):c.*307A>G SNV Uncertain significance 319308 rs547544453 GRCh37: 16:46731804-46731804
GRCh38: 16:46697892-46697892
35 ORC6 NM_014321.4(ORC6):c.*582A>C SNV Uncertain significance 319314 rs570114406 GRCh37: 16:46732079-46732079
GRCh38: 16:46698167-46698167
36 ORC6 NM_014321.4(ORC6):c.556G>T (p.Val186Phe) SNV Uncertain significance 319304 rs368692007 GRCh37: 16:46729580-46729580
GRCh38: 16:46695668-46695668
37 ORC6 NM_014321.4(ORC6):c.*621T>C SNV Uncertain significance 319323 rs758041096 GRCh37: 16:46732118-46732118
GRCh38: 16:46698206-46698206
38 ORC6 NM_014321.4(ORC6):c.207T>G (p.Ile69Met) SNV Uncertain significance 129865 rs138076975 GRCh37: 16:46726305-46726305
GRCh38: 16:46692393-46692393
39 ORC6 NM_014321.4(ORC6):c.*363C>T SNV Uncertain significance 319309 rs768612856 GRCh37: 16:46731860-46731860
GRCh38: 16:46697948-46697948
40 ORC6 NM_014321.4(ORC6):c.*217C>T SNV Benign 319306 rs143138864 GRCh37: 16:46731714-46731714
GRCh38: 16:46697802-46697802
41 ORC6 NM_014321.4(ORC6):c.*479G>A SNV Benign 319310 rs533502054 GRCh37: 16:46731976-46731976
GRCh38: 16:46698064-46698064
42 ORC6 NM_014321.4(ORC6):c.675T>C (p.Asp225=) SNV Benign 129866 rs34343511 GRCh37: 16:46731413-46731413
GRCh38: 16:46697501-46697501
43 VPS35 , ORC6 NM_014321.4(ORC6):c.-47G>A SNV Benign 260387 rs144065502 GRCh37: 16:46723571-46723571
GRCh38: 16:46689659-46689659
44 VPS35 , ORC6 NM_014321.4(ORC6):c.-20T>C SNV Benign 260386 rs33994299 GRCh37: 16:46723598-46723598
GRCh38: 16:46689686-46689686

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 3:

72
# Symbol AA change Variation ID SNP ID
1 ORC6 p.Tyr232Ser VAR_065487 rs387906969

Expression for Meier-Gorlin Syndrome 3

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 3.

Pathways for Meier-Gorlin Syndrome 3

GO Terms for Meier-Gorlin Syndrome 3

Sources for Meier-Gorlin Syndrome 3

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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