FLVCR2 gene related symptoms and diseases

All the information presented here about the FLVCR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FLVCR2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Lissencephaly Very Common - Between 80% and 100% cases
Premature birth Very Common - Between 80% and 100% cases
Dandy-Walker malformation Very Common - Between 80% and 100% cases
Cerebral calcification Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FLVCR2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Decreased fetal movement
  • Hypsarrhythmia
  • Microretrognathia
  • Pterygium
  • Polyhydramnios
  • Akinesia
  • Hypoplasia of the brainstem
  • Cystic hygroma

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to FLVCR2 gene

Here you will find a list of rare diseases related to the FLVCR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FOWLER SYNDROME


Alternate names

FOWLER SYNDROME Is also known as epv, cerebral proliferative glomeruloid vasculopathy, fowler syndrome, proliferative vasculopathy and hydranencephaly/hydrocephaly, hydranencephaly, fowler type, hydrocephaly/hydranencephaly due to cerebral vasculopathy, encephaloclastic proliferative vasculopa

Description

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

Most common symptoms of FOWLER SYNDROME

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


More info about FOWLER SYNDROME

SOURCES: MESH ORPHANET OMIM


Potential gene panels for FLVCR2 gene

NGS Epilepsy/Seizure Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Hydranencephaly, Fowler type Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the FLVCR2 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Single gene testing FLVCR2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the FLVCR2 gene.

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

FLVCR2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FLVCR2 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Arthrogryposes Panel Panel

Finland.

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B

More info about this panel

Neuronal Migration Disorder Panel Panel

Finland.

By Blueprint Genetics Neuronal Migration Disorder Panel that also includes the following genes: MED12 TUBA8 TUBB2A TUBG1 VLDLR YWHAE ACTB NSDHL RXYLT1 RAB18

More info about this panel


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