MCID: MRG015
MIFTS: 23

Meier-Gorlin Syndrome 7

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

Aliases & Classifications for Meier-Gorlin Syndrome 7

Summaries for Meier-Gorlin Syndrome 7

UniProtKB/Swiss-Prot : 75 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 related phenotypes are cryptorchidism and hypospadias

Description from OMIM: 617063

Related Diseases for Meier-Gorlin Syndrome 7

Symptoms & Phenotypes for Meier-Gorlin Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
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)

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Meier-Gorlin Syndrome 7:

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

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

26
# 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 29 CDC45

Anatomical Context for Meier-Gorlin Syndrome 7

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

41
Testes

Publications for Meier-Gorlin Syndrome 7

Variations for Meier-Gorlin Syndrome 7

ClinVar genetic disease variations for Meier-Gorlin Syndrome 7:

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC45 NM_003504.4(CDC45): c.677A> G (p.Asp226Gly) single nucleotide variant Pathogenic rs754080445 GRCh37 Chromosome 22, 19486647: 19486647
2 CDC45 NM_003504.4(CDC45): c.677A> G (p.Asp226Gly) single nucleotide variant Pathogenic rs754080445 GRCh38 Chromosome 22, 19499124: 19499124
3 CDC45 NM_003504.4(CDC45): c.318C> T (p.Val106=) single nucleotide variant Pathogenic rs745800041 GRCh37 Chromosome 22, 19470326: 19470326
4 CDC45 NM_003504.4(CDC45): c.318C> T (p.Val106=) single nucleotide variant Pathogenic rs745800041 GRCh38 Chromosome 22, 19482803: 19482803
5 CDC45 NM_003504.4(CDC45): c.226A> C (p.Asn76His) single nucleotide variant Pathogenic rs879255632 GRCh37 Chromosome 22, 19470234: 19470234
6 CDC45 NM_003504.4(CDC45): c.226A> C (p.Asn76His) single nucleotide variant Pathogenic rs879255632 GRCh38 Chromosome 22, 19482711: 19482711
7 CDC45 NM_003504.4(CDC45): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic rs540217942 GRCh38 Chromosome 22, 19483988: 19483988
8 CDC45 NM_003504.4(CDC45): c.469C> T (p.Arg157Cys) single nucleotide variant Pathogenic rs540217942 GRCh37 Chromosome 22, 19471511: 19471511
9 CDC45 NM_003504.4(CDC45): c.1660C> T (p.Arg554Trp) single nucleotide variant Pathogenic rs778665661 GRCh37 Chromosome 22, 19506390: 19506390
10 CDC45 NM_003504.4(CDC45): c.1660C> T (p.Arg554Trp) single nucleotide variant Pathogenic rs778665661 GRCh38 Chromosome 22, 19518867: 19518867
11 CDC45 NM_003504.4(CDC45): c.203A> G (p.Gln68Arg) single nucleotide variant Pathogenic rs879255633 GRCh38 Chromosome 22, 19481044: 19481044
12 CDC45 NM_003504.4(CDC45): c.203A> G (p.Gln68Arg) single nucleotide variant Pathogenic rs879255633 GRCh37 Chromosome 22, 19468567: 19468567
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 Pathogenic rs146559223 GRCh37 Chromosome 22, 19494977: 19494977
16 CDC45 NM_003504.4(CDC45): c.893C> T (p.Ala298Val) single nucleotide variant 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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....