ZFR gene related symptoms and diseases
All the information presented here about the ZFR 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 ZFR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Peripheral neuropathy | Very Common - Between 80% and 100% cases |
| Hyperreflexia | Very Common - Between 80% and 100% cases |
| Hypoplasia of the corpus callosum | Very Common - Between 80% and 100% cases |
| Intellectual disability, mild | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ZFR gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Babinski sign
- Abnormality of movement
- Lower limb spasticity
- Spastic gait
- EMG abnormality
- Progressive spastic paraplegia
- Hand tremor
- Abnormal myelination
Rare diseases associated to ZFR gene
Here you will find a list of rare diseases related to the ZFR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71
Description
Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71
- Global developmental delay
- Peripheral neuropathy
- Hyperreflexia
- Hypoplasia of the corpus callosum
- Intellectual disability, mild
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71
SOURCES: ORPHANET
Search interest in ZFR
Potential gene panels for ZFR gene
Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panel United States.
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panel United States.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
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.
ZFR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ZFR gene.
More info about this panel United States.
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