CEP55 gene related symptoms and diseases
All the information presented here about the CEP55 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CEP55 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Oligohydramnios | Common - Between 50% and 80% cases |
| Talipes | Common - Between 50% and 80% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Ureteral duplication | Uncommon - Between 30% and 50% cases |
| Lobar holoprosencephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CEP55 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- True hermaphroditism
- Pancreatic fibrosis
- Aplasia/Hypoplasia of the tongue
- Urethral atresia
- Abnormal chorioretinal morphology
- Aplasia/Hypoplasia of the iris
- Accessory spleen
- Pancreatic cysts
And 91 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CEP55 gene
Here you will find a list of rare diseases related to the CEP55. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
MECKEL SYNDROME
Alternate names
MECKEL SYNDROME Is also known as meckel-gruber syndrome
Description
Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Most common symptoms of MECKEL SYNDROME
- Microcephaly
- Hypertelorism
- Micrognathia
- Cleft palate
- Cataract
More info about MECKEL SYNDROME
SOURCES: ORPHANET
MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME
Alternate names
MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME Is also known as hydranencephaly with renal aplasia-dysplasia, march syndrome
Description
MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).
Most common symptoms of MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME
- Flexion contracture
- Talipes equinovarus
- Syndactyly
- Clinodactyly
- Clinodactyly of the 5th finger
More info about MULTINUCLEATED NEURONS-ANHYDRAMNIOS-RENAL DYSPLASIA-CEREBELLAR HYPOPLASIA-HYDRANENCEPHALY SYNDROME
Search interest in CEP55
Potential gene panels for CEP55 gene
CEP55 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CEP55 gene.
More info about this panel United States.
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