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.

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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

SOURCES: OMIM MESH

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

SOURCES: ORPHANET MESH OMIM


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


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