NUP62 gene related symptoms and diseases
All the information presented here about the NUP62 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 NUP62 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Nausea and vomiting | Uncommon - Between 30% and 50% cases |
Abnormality of the basal ganglia | Uncommon - Between 30% and 50% cases |
Methylmalonic aciduria | Uncommon - Between 30% and 50% cases |
Developmental stagnation | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NUP62 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Pendular nystagmus
- Involuntary movements
- Choreoathetosis
- Generalized-onset seizure
- Neuronal loss in central nervous system
- Aciduria
- Gliosis
- Neurodegeneration
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NUP62 gene
Here you will find a list of rare diseases related to the NUP62. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS
Alternate names
FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS Is also known as familial ibsn, familial infantile striatonigral necrosis, familial infantile striatonigral degeneration
Description
Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.
More info about FAMILIAL INFANTILE BILATERAL STRIATAL NECROSIS
SOURCES: ORPHANET
STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
Alternate names
STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as striatal degeneration, familial, bilateral striatal necrosis, infantile, ibsn, infantile bilateral striatal necrosis
Description
Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995).
Most common symptoms of STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Failure to thrive
More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI
Search interest in NUP62
Potential gene panels for NUP62 gene
Dystonia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelHereditary Degenerative Syndromes Panel Panel
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panelNUP62 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NUP62 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SBF2 NCKAP5 TBX15 HBD SEC63 ESCO2 KDM1A