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  3. NUP62

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.

Table of contents:

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). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

Most common symptoms of STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Failure to thrive


More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

SOURCES: ORPHANET OMIM


Potential gene panels for NUP62 gene

Dystonia Exome Panel Panel

United States.

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 panel
United States.

Ataxia Exome Panel Panel

United States.

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 panel
United States.

Hereditary Degenerative Syndromes Panel Panel

Germany.

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 panel
Germany.

NUP62 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NUP62 gene.

More info about this panel
United States.

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