CEP57 gene related symptoms and diseases
All the information presented here about the CEP57 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CEP57 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Intrauterine growth retardation | Very Common - Between 80% and 100% cases |
| Rhabdomyosarcoma | Very Common - Between 80% and 100% cases |
| Nephroblastoma | Very Common - Between 80% and 100% cases |
| Myelodysplasia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CEP57 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Premature chromatid separation
- Seizures
- Ambiguous genitalia
- Dandy-Walker malformation
- Wide nose
- Muscular dystrophy
- Small for gestational age
- High forehead
And 122 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CEP57 gene
Here you will find a list of rare diseases related to the CEP57. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
Alternate names
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome
Description
Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.
Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
Alternate names
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome
Description
Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004).
Most common symptoms of MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1
SOURCES: OMIM
Search interest in CEP57
Potential gene panels for CEP57 gene
OncoRisk Plus (NGS panel for 89 genes) Panel
Portugal.
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Portugal.
Mosaic Variegated Aneuploidy Syndrome via CEP57 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CEP57 gene.
More info about this panel United States.
Hereditary Cancer Syndromes - panels Panel
Germany.
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Germany.
Ovarian Cancer Panel
Germany.
By MGZ Medical Genetics Center Ovarian Cancer that also includes the following genes: BRCA1 BRCA2 BUB1B TP53 DICER1 BRIP1 FANCL SLX4 FANCI PALB2
More info about this panel Germany.
Breast Cancer Panel
Germany.
By MGZ Medical Genetics Center Breast Cancer that also includes the following genes: BLM SDHB SDHC SDHD BRCA1 BRCA2 STK11 BUB1B TP53 CDH1
More info about this panel Germany.
Mosaic variegated aneuploidy syndrome type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CEP57 gene.
More info about this panel Germany.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
CEP57 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CEP57 gene.
More info about this panel United States.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
Spain.
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
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