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.
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
Search interest in FLVCR2
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 United States.
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 United States.
Hydranencephaly, Fowler type Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the FLVCR2 gene.
More info about this panel Germany.
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 Germany.
Single gene testing FLVCR2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the FLVCR2 gene.
More info about this panel Germany.
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 United States.
FLVCR2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FLVCR2 gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Finland.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like FIG4 HCRT CD96 SCN11A AMELX ST3GAL3 ECM1