MGORS7
MCID: MRG015
MIFTS: 25

Meier-Gorlin Syndrome 7 (MGORS7)

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

Aliases & Classifications for Meier-Gorlin Syndrome 7

MalaCards integrated aliases for Meier-Gorlin Syndrome 7:

Name: Meier-Gorlin Syndrome 7 57 12 72 29 6
Mgors7 57 72
Syndrome, Meier-Gorlin, Type 7 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
meier-gorlin syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Meier-Gorlin Syndrome 7

UniProtKB/Swiss-Prot : 72 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, is also known as mgors7. An important gene associated with Meier-Gorlin Syndrome 7 is CDC45 (Cell Division Cycle 45). Affiliated tissues include testes and breast, and related phenotypes are scoliosis and high palate

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

More information from OMIM: 617063 PS224690

Related Diseases for Meier-Gorlin Syndrome 7

Symptoms & Phenotypes for Meier-Gorlin Syndrome 7

Human phenotypes related to Meier-Gorlin Syndrome 7:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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

Head And Neck Nose:
choanal atresia

Head And Neck Head:
craniosynostosis
microcephaly, progressive

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

Growth Weight:
low weight

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)

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:
micropenis
hypospadias
urethral stricture

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary External Genitalia Female:
clitoromegaly

Skeletal Skull:
sagittal craniosynostosis
large anterior fontanel
microcephaly, progressive
unicoronal or bicoronal craniosynostosis
lambdoid or bilateral lambdoid craniosynostosis
more
Genitourinary Internal Genitalia Male:
undescended testes

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)

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 (Updated 20-May-2021)

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 29 CDC45

Anatomical Context for Meier-Gorlin Syndrome 7

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

40
Testes, Breast

Publications for Meier-Gorlin Syndrome 7

Articles related to Meier-Gorlin Syndrome 7:

# Title Authors PMID Year
1
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 6 57
27374770 2016

Variations for Meier-Gorlin Syndrome 7

ClinVar genetic disease variations for Meier-Gorlin Syndrome 7:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDC45 NM_003504.5(CDC45):c.(342+1_343-1)_(486+1_487-1)del Deletion Pathogenic 253105 GRCh37:
GRCh38: 22:19482828-19494326
2 CDC45 NM_001178010.2(CDC45):c.318C>T (p.Val106=) SNV Pathogenic 253098 rs745800041 GRCh37: 22:19470326-19470326
GRCh38: 22:19482803-19482803
3 CDC45 NM_001178010.2(CDC45):c.333C>T (p.Asn111=) SNV Pathogenic 253103 rs748749078 GRCh37: 22:19470341-19470341
GRCh38: 22:19482818-19482818
4 CDC45 NM_001178011.2(CDC45):c.205-1051TA[4] Microsatellite Pathogenic 619950 rs752023208 GRCh37: 22:19470333-19470334
GRCh38: 22:19482810-19482811
5 CDC45 NM_001178010.2(CDC45):c.469C>T (p.Arg157Cys) SNV Likely pathogenic 253100 rs540217942 GRCh37: 22:19471511-19471511
GRCh38: 22:19483988-19483988
6 CDC45 NM_001178010.2(CDC45):c.1117C>T (p.Arg373Trp) SNV Likely pathogenic 635406 rs540900837 GRCh37: 22:19495353-19495353
GRCh38: 22:19507830-19507830
7 CDC45 NM_001178010.2(CDC45):c.989C>T (p.Ala330Val) SNV Likely pathogenic 253104 rs146559223 GRCh37: 22:19494977-19494977
GRCh38: 22:19507454-19507454
8 CDC45 NM_001178010.2(CDC45):c.773A>G (p.Asp258Gly) SNV Likely pathogenic 253097 rs754080445 GRCh37: 22:19486647-19486647
GRCh38: 22:19499124-19499124
9 CDC45 NM_001178010.2(CDC45):c.203A>G (p.Gln68Arg) SNV Likely pathogenic 253102 rs879255633 GRCh37: 22:19468567-19468567
GRCh38: 22:19481044-19481044
10 CDC45 NM_001178010.2(CDC45):c.226A>C (p.Asn76His) SNV Likely pathogenic 253099 rs879255632 GRCh37: 22:19470234-19470234
GRCh38: 22:19482711-19482711
11 CDC45 NM_001178010.2(CDC45):c.887C>A (p.Ser296Tyr) SNV Uncertain significance 617920 rs151279621 GRCh37: 22:19492971-19492971
GRCh38: 22:19505448-19505448
12 CDC45 NM_001178010.2(CDC45):c.1484C>T (p.Pro495Leu) SNV Uncertain significance 617938 rs751663397 GRCh37: 22:19502519-19502519
GRCh38: 22:19514996-19514996
13 CDC45 NM_001178010.2(CDC45):c.1583C>T (p.Pro528Leu) SNV Uncertain significance 617940 rs1376596361 GRCh37: 22:19504096-19504096
GRCh38: 22:19516573-19516573
14 CDC45 NM_001178010.2(CDC45):c.1756C>T (p.Arg586Trp) SNV Uncertain significance 253101 rs778665661 GRCh37: 22:19506390-19506390
GRCh38: 22:19518867-19518867
15 CDC45 NM_003504.5(CDC45):c.1525A>G (p.Ile509Val) SNV Uncertain significance 1033360 GRCh37: 22:19504134-19504134
GRCh38: 22:19516611-19516611

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

72
# 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

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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