MGORS7
MCID: MRG015
MIFTS: 26

Meier-Gorlin Syndrome 7 (MGORS7)

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

Aliases & Classifications for Meier-Gorlin Syndrome 7

Summaries for Meier-Gorlin Syndrome 7

UniProtKB/Swiss-Prot : 76 Meier-Gorlin syndrome 7: A form of Meier-Gorlin syndrome, 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. MGORS7 inheritance is autosomal recessive.

MalaCards based summary : Meier-Gorlin Syndrome 7, also known as mgors7, is related to digeorge syndrome. An important gene associated with Meier-Gorlin Syndrome 7 is CDC45 (Cell Division Cycle 45). Affiliated tissues include testes, breast and bone, and related phenotypes are high palate and scoliosis

Disease Ontology : 12 A Meier-Gorlin syndrome that has material basis in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11.

Description from OMIM: 617063

Related Diseases for Meier-Gorlin Syndrome 7

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

# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 9.5 CDC45 UFD1

Symptoms & Phenotypes for Meier-Gorlin Syndrome 7

Human phenotypes related to Meier-Gorlin Syndrome 7:

33 (show all 37)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 scoliosis 33 HP:0002650
3 hearing impairment 33 HP:0000365
4 global developmental delay 33 HP:0001263
5 microtia 33 HP:0008551
6 short stature 33 HP:0004322
7 cleft palate 33 HP:0000175
8 strabismus 33 HP:0000486
9 cryptorchidism 33 HP:0000028
10 myopia 33 HP:0000545
11 atrial septal defect 33 HP:0001631
12 joint laxity 33 HP:0001388
13 hypospadias 33 HP:0000047
14 narrow mouth 33 HP:0000160
15 anal atresia 33 HP:0002023
16 vesicoureteral reflux 33 HP:0000076
17 choanal atresia 33 HP:0000453
18 ventricular septal defect 33 HP:0001629
19 wide anterior fontanel 33 HP:0000260
20 proptosis 33 HP:0000520
21 decreased body weight 33 HP:0004325
22 micropenis 33 HP:0000054
23 pulmonary hypoplasia 33 HP:0002089
24 aplasia/hypoplasia of the patella 33 HP:0006498
25 anal stenosis 33 HP:0002025
26 duodenal stenosis 33 HP:0100867
27 2-3 toe syndactyly 33 HP:0004691
28 bowing of the legs 33 HP:0002979
29 urethral stricture 33 HP:0012227
30 thin eyebrow 33 HP:0045074
31 clitoral hypertrophy 33 HP:0008665
32 preaxial polydactyly 33 HP:0100258
33 arnold-chiari type i malformation 33 HP:0007099
34 sagittal craniosynostosis 33 HP:0004442
35 progressive microcephaly 33 HP:0000253
36 clubbing 33 HP:0001217
37 complete atrioventricular canal defect 33 HP:0001674

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
high palate
cleft palate
small mouth

Growth Height:
short stature

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
atrioventricular canal
atrioventricular conduction block

Genitourinary Ureters:
vesicoureteral reflux

Head And Neck Head:
craniosynostosis
microcephaly, progressive

Abdomen Gastrointestinal:
anal stenosis
duodenal stenosis
imperforate anus
anorectal malformation
anterior anus

Growth Weight:
low weight

Skeletal Spine:
scoliosis (in 1 patient)
c1-c3 fusion (in 1 patient)
c4-c7 fusion (in 1 patient)
thoracic vertebral segmentation defects (in 1 patient)

Neurologic Central Nervous System:
developmental delay, mild to severe
chiari i malformation (in 1 patient)

Growth Other:
growth failure, progressive

Chest Breasts:
breast agenesis

Head And Neck Ears:
microtia
hearing loss

Head And Neck Eyes:
strabismus
myopia
proptosis
thin eyebrows

Genitourinary External Genitalia Male:
hypospadias
micropenis
urethral stricture

Head And Neck Nose:
choanal atresia

Genitourinary External Genitalia Female:
clitoromegaly

Skeletal Skull:
sagittal craniosynostosis
large anterior fontanel
microcephaly, progressive
unicoronal or bicoronal craniosynostosis
lambdoid or bilateral lambdoid craniosynostosis
more
Skeletal Feet:
syndactyly of second and third toes

Skeletal Limbs:
patellar aplasia/hypoplasia
bilateral radial head dislocation
bowed legs (in 1 patient)
joint laxity (in 1 patient)

Genitourinary Internal Genitalia Male:
undescended testes

Respiratory Lung:
pulmonary hypoplasia (in 1 patient)

Skeletal Hands:
digital clubbing (in 1 patient)
syndactyly of second, third, and fourth fingers, mild (in 1 patient)
preaxial polydactyly, bilateral (in 1 patient)

Clinical features from OMIM:

617063

GenomeRNAi Phenotypes related to Meier-Gorlin Syndrome 7 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 G0/1 arrest GR00098-A-2 8.62 CDC45 UFD1

Drugs & Therapeutics for Meier-Gorlin Syndrome 7

Search Clinical Trials , NIH Clinical Center for Meier-Gorlin Syndrome 7

Genetic Tests for Meier-Gorlin Syndrome 7

Genetic tests related to Meier-Gorlin Syndrome 7:

# Genetic test Affiliating Genes
1 Meier-Gorlin Syndrome 7 30 CDC45

Anatomical Context for Meier-Gorlin Syndrome 7

MalaCards organs/tissues related to Meier-Gorlin Syndrome 7:

42
Testes, Breast, Bone

Publications for Meier-Gorlin Syndrome 7

Articles related to Meier-Gorlin Syndrome 7:

# Title Authors Year
1
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. ( 27374770 )
2016

Variations for Meier-Gorlin Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Meier-Gorlin Syndrome 7:

76
# Symbol AA change Variation ID SNP ID
1 CDC45 p.Gln68Arg VAR_080963 rs879255633
2 CDC45 p.Asn76His VAR_080964 rs879255632
3 CDC45 p.Arg157Cys VAR_080966 rs540217942
4 CDC45 p.Asp226Gly VAR_080967 rs754080445
5 CDC45 p.Ala298Val VAR_080969 rs146559223

ClinVar genetic disease variations for Meier-Gorlin Syndrome 7:

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC45 NM_003504.4(CDC45): c.203A> G (p.Gln68Arg) single nucleotide variant Likely pathogenic rs879255633 GRCh37 Chromosome 22, 19468567: 19468567
2 CDC45 NM_003504.4(CDC45): c.677A> G (p.Asp226Gly) single nucleotide variant Likely pathogenic rs754080445 GRCh37 Chromosome 22, 19486647: 19486647
3 CDC45 NM_003504.4(CDC45): c.677A> G (p.Asp226Gly) single nucleotide variant Likely pathogenic rs754080445 GRCh38 Chromosome 22, 19499124: 19499124
4 CDC45 NM_003504.4(CDC45): c.318C> T (p.Val106=) single nucleotide variant Pathogenic rs745800041 GRCh37 Chromosome 22, 19470326: 19470326
5 CDC45 NM_003504.4(CDC45): c.318C> T (p.Val106=) single nucleotide variant Pathogenic rs745800041 GRCh38 Chromosome 22, 19482803: 19482803
6 CDC45 NM_003504.4(CDC45): c.226A> C (p.Asn76His) single nucleotide variant Likely pathogenic rs879255632 GRCh37 Chromosome 22, 19470234: 19470234
7 CDC45 NM_003504.4(CDC45): c.226A> C (p.Asn76His) single nucleotide variant Likely pathogenic rs879255632 GRCh38 Chromosome 22, 19482711: 19482711
8 CDC45 NM_003504.4(CDC45): c.469C> T (p.Arg157Cys) single nucleotide variant Likely pathogenic rs540217942 GRCh38 Chromosome 22, 19483988: 19483988
9 CDC45 NM_003504.4(CDC45): c.469C> T (p.Arg157Cys) single nucleotide variant Likely pathogenic rs540217942 GRCh37 Chromosome 22, 19471511: 19471511
10 CDC45 NM_003504.4(CDC45): c.1660C> T (p.Arg554Trp) single nucleotide variant Uncertain significance rs778665661 GRCh37 Chromosome 22, 19506390: 19506390
11 CDC45 NM_003504.4(CDC45): c.1660C> T (p.Arg554Trp) single nucleotide variant Uncertain significance rs778665661 GRCh38 Chromosome 22, 19518867: 19518867
12 CDC45 NM_003504.4(CDC45): c.203A> G (p.Gln68Arg) single nucleotide variant Likely pathogenic rs879255633 GRCh38 Chromosome 22, 19481044: 19481044
13 CDC45 NM_003504.4(CDC45): c.333C> T (p.Asn111=) single nucleotide variant Pathogenic rs748749078 GRCh37 Chromosome 22, 19470341: 19470341
14 CDC45 NM_003504.4(CDC45): c.333C> T (p.Asn111=) single nucleotide variant Pathogenic rs748749078 GRCh38 Chromosome 22, 19482818: 19482818
15 CDC45 NM_003504.4(CDC45): c.893C> T (p.Ala298Val) single nucleotide variant Likely pathogenic rs146559223 GRCh37 Chromosome 22, 19494977: 19494977
16 CDC45 NM_003504.4(CDC45): c.893C> T (p.Ala298Val) single nucleotide variant Likely pathogenic rs146559223 GRCh38 Chromosome 22, 19507454: 19507454
17 CDC45 NM_003504.4(CDC45): c.(342+1_343-1)_(486+1_487-1)del deletion Pathogenic GRCh38 Chromosome 22, 19482828: 19494326
18 CDC45 NM_001178010.2(CDC45): c.887C> A (p.Ser296Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19505448: 19505448
19 CDC45 NM_001178010.2(CDC45): c.887C> A (p.Ser296Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19492971: 19492971
20 CDC45 NM_001178010.2(CDC45): c.1484C> T (p.Pro495Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19514996: 19514996
21 CDC45 NM_001178010.2(CDC45): c.1484C> T (p.Pro495Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19502519: 19502519
22 CDC45 NM_001178010.2(CDC45): c.1583C> T (p.Pro528Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19516573: 19516573
23 CDC45 NM_001178010.2(CDC45): c.1583C> T (p.Pro528Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19504096: 19504096

Expression for Meier-Gorlin Syndrome 7

Search GEO for disease gene expression data for Meier-Gorlin Syndrome 7.

Pathways for Meier-Gorlin Syndrome 7

GO Terms for Meier-Gorlin Syndrome 7

Sources for Meier-Gorlin Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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