RANBP2 gene related symptoms and diseases
All the information presented here about the RANBP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RANBP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Fever | Common - Between 50% and 80% cases |
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Increased CSF protein | Uncommon - Between 30% and 50% cases |
| Gliosis | Uncommon - Between 30% and 50% cases |
| Spastic tetraplegia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RANBP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hallucinations
- Foot dorsiflexor weakness
- Encephalitis
- Severe vision loss
- Cerebral edema
- Coma
- Abnormal posturing
- Abducens palsy
And 23 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RANBP2 gene
Here you will find a list of rare diseases related to the RANBP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INFLAMMATORY MYOFIBROBLASTIC TUMOR
Description
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
Most common symptoms of INFLAMMATORY MYOFIBROBLASTIC TUMOR
- Neoplasm
- Pain
- Fever
More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR
SOURCES: ORPHANET
FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY
Alternate names
FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane, recurrent acute necrotizing encephalopathy, ane, encephalopathy, acute necrotizing, susceptibility to
Description
Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.
Most common symptoms of FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Generalized hypotonia
- Ataxia
- Spasticity
More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY
ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD
Alternate names
ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD Is also known as anec, isolated acute necrotizing encephalopathy, isolated ane
Description
Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.
More info about ACUTE NECROTIZING ENCEPHALOPATHY OF CHILDHOOD
SOURCES: ORPHANET
Search interest in RANBP2
Potential gene panels for RANBP2 gene
RANBP2 Common Mutations Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the RANBP2 gene.
More info about this panel United States.
RANBP2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RANBP2 gene.
More info about this panel Spain.
Encephalopathy, acute necrotizing (sequence analysis of RANBP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RANBP2 gene.
More info about this panel Portugal.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
RANBP2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the RANBP2 gene.
More info about this panel Germany.
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.
Inflammatory epilepsy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Inflammatory epilepsy panel that also includes the following genes: SCN1A RANBP2
More info about this panel Netherlands.
Encephalopathy acute necrotizing 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RANBP2 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.
RANBP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RANBP2 gene.
More info about this panel United States.
Familial acute necrotizing encephalopathy Panel
Spain.
By Bioarray
This panel specifically test the RANBP2 gene.
More info about this panel Spain.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panel United States.
ENCEPHALOPATHY, NECROTIZING, FAMILIAL ACUTE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RANBP2 gene.
More info about this panel Spain.
Familial Acute Necrotizing Encephalopathy , Sequencing RANBP2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RANBP2 gene.
More info about this panel Spain.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Susceptibility to Infection-Induced Acute Encephalopathy 3: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RANBP2 gene.
More info about this panel Canada.
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