MGORS4
MCID: MRG011
MIFTS: 27

Meier-Gorlin Syndrome 4 (MGORS4)

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

Aliases & Classifications for Meier-Gorlin Syndrome 4

MalaCards integrated aliases for Meier-Gorlin Syndrome 4:

Name: Meier-Gorlin Syndrome 4 57 12 72 29 13 6 15 70
Mgors4 57 72
Meier-Gorlin Syndrome, Type 4 39

Characteristics:

OMIM®:

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


HPO:

31
meier-gorlin syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080515
OMIM® 57 613804
OMIM Phenotypic Series 57 PS224690
MedGen 41 C3151120
UMLS 70 C3151120

Summaries for Meier-Gorlin Syndrome 4

UniProtKB/Swiss-Prot : 72 Meier-Gorlin syndrome 4: 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 4, is also known as mgors4. An important gene associated with Meier-Gorlin Syndrome 4 is CDT1 (Chromatin Licensing And DNA Replication Factor 1). Affiliated tissues include bone and breast, and related phenotypes are failure to thrive and delayed skeletal maturation

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.

More information from OMIM: 613804 PS224690

Related Diseases for Meier-Gorlin Syndrome 4

Symptoms & Phenotypes for Meier-Gorlin Syndrome 4

Human phenotypes related to Meier-Gorlin Syndrome 4:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 delayed skeletal maturation 31 HP:0002750
3 microtia 31 HP:0008551
4 microcephaly 31 HP:0000252
5 thick lower lip vermilion 31 HP:0000179
6 genu recurvatum 31 HP:0002816
7 cryptorchidism 31 HP:0000028
8 intrauterine growth retardation 31 HP:0001511
9 micrognathia 31 HP:0000347
10 low-set ears 31 HP:0000369
11 slender long bone 31 HP:0003100
12 emphysema 31 HP:0002097
13 hypoplasia of the maxilla 31 HP:0000327
14 narrow mouth 31 HP:0000160
15 feeding difficulties 31 HP:0011968
16 patellar aplasia 31 HP:0006443
17 breast hypoplasia 31 HP:0003187
18 lateral clavicle hook 31 HP:0000895
19 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)

Head And Neck Head:
microcephaly

Skeletal Limbs:
genu recurvatum
slender long bones
absent patellae

Chest Breasts:
breast hypoplasia

Skeletal:
delayed bone age

Chest Ribs Sternum Clavicles And Scapulae:
hook-shaped clavicles
abnormal glenoid fossa

Respiratory:
respiratory problems

Abdomen Gastrointestinal:
feeding difficulties in early infancy

Head And Neck Ears:
microtia
low-set ears
abnormally formed ears

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

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
maxillary hypoplasia
small mouth
mandibular hypoplasia
full lips

Growth Weight:
birth weight less than 3rd percentile

Neurologic Central Nervous System:
no mental retardation
intellect high (in some patients)

Respiratory Lung:
emphysema, congenital

Clinical features from OMIM®:

613804 (Updated 05-Apr-2021)

Drugs & Therapeutics for Meier-Gorlin Syndrome 4

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 4

Genetic Tests for Meier-Gorlin Syndrome 4

Genetic tests related to Meier-Gorlin Syndrome 4:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 4 29 CDT1

Anatomical Context for Meier-Gorlin Syndrome 4

MalaCards organs/tissues related to Meier-Gorlin Syndrome 4:

40
Bone, Breast

Publications for Meier-Gorlin Syndrome 4

Articles related to Meier-Gorlin Syndrome 4:

# 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. 57 6
11992493 2002
4
Meier-Gorlin syndrome: report of eight additional cases and review. 6 57
11477602 2001

Variations for Meier-Gorlin Syndrome 4

ClinVar genetic disease variations for Meier-Gorlin Syndrome 4:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDT1 NM_030928.4(CDT1):c.1560C>G (p.Tyr520Ter) SNV Pathogenic 30499 rs147914553 GRCh37: 16:88874605-88874605
GRCh38: 16:88808197-88808197
2 CDT1 CDT1, IVS2DS, G-C, +1 SNV Pathogenic 30500 GRCh37:
GRCh38:
3 CDT1 NM_030928.4(CDT1):c.196G>A (p.Ala66Thr) SNV Pathogenic 30501 rs387906918 GRCh37: 16:88870435-88870435
GRCh38: 16:88804027-88804027
4 CDT1 NM_030928.4(CDT1):c.1402G>A (p.Glu468Lys) SNV Pathogenic 30502 rs200652608 GRCh37: 16:88873815-88873815
GRCh38: 16:88807407-88807407
5 CDT1 NM_030928.4(CDT1):c.832+1G>A SNV Pathogenic 128664 rs587780305 GRCh37: 16:88872278-88872278
GRCh38: 16:88805870-88805870
6 CDT1 NM_030928.4(CDT1):c.1385G>A (p.Arg462Gln) SNV Pathogenic 30498 rs387906917 GRCh37: 16:88873798-88873798
GRCh38: 16:88807390-88807390
7 CDT1 NM_030928.4(CDT1):c.1125G>A (p.Met375Ile) SNV Uncertain significance 1029984 GRCh37: 16:88873461-88873461
GRCh38: 16:88807053-88807053
8 CDT1 NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) SNV Uncertain significance 434677 rs200672589 GRCh37: 16:88873770-88873770
GRCh38: 16:88807362-88807362
9 CDT1 NM_030928.4(CDT1):c.613G>A (p.Gly205Ser) SNV Uncertain significance 434673 rs145552478 GRCh37: 16:88871972-88871972
GRCh38: 16:88805564-88805564
10 CDT1 NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala) SNV Likely benign 210649 rs141663679 GRCh37: 16:88873824-88873824
GRCh38: 16:88807416-88807416
11 CDT1 NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) SNV Benign 790427 rs139038990 GRCh37: 16:88870972-88870972
GRCh38: 16:88804564-88804564
12 CDT1 NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) SNV Benign 128680 rs507329 GRCh37: 16:88872145-88872145
GRCh38: 16:88805737-88805737
13 CDT1 NM_030928.4(CDT1):c.915T>C (p.His305=) SNV Benign 128683 rs510862 GRCh37: 16:88872511-88872511
GRCh38: 16:88806103-88806103
14 CDT1 NM_030928.4(CDT1):c.1154G>A (p.Arg385His) SNV not provided 441024 rs143840572 GRCh37: 16:88873490-88873490
GRCh38: 16:88807082-88807082

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 CDT1 p.Ala66Thr VAR_065488 rs387906918
2 CDT1 p.Gln117His VAR_065489 rs779871947
3 CDT1 p.Arg453Trp VAR_065490 rs200672589
4 CDT1 p.Arg462Gln VAR_065491 rs387906917
5 CDT1 p.Glu468Lys VAR_065492 rs200652608

Expression for Meier-Gorlin Syndrome 4

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 4.

Pathways for Meier-Gorlin Syndrome 4

GO Terms for Meier-Gorlin Syndrome 4

Sources for Meier-Gorlin Syndrome 4

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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