ISCA1 gene related symptoms and diseases

All the information presented here about the ISCA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ISCA1 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Retinopathy Very Common - Between 80% and 100% cases
Pachygyria Very Common - Between 80% and 100% cases
Progressive neurologic deterioration Very Common - Between 80% and 100% cases
Pigmentary retinopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ISCA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased serum lactate
  • Delayed myelination
  • Lactic acidosis
  • Developmental regression
  • Global developmental delay
  • Acidosis
  • Elevated serum creatine phosphokinase
  • Ventriculomegaly

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ISCA1 gene

Here you will find a list of rare diseases related to the ISCA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5


Description

MMDS5 is an autosomal recessive disorder characterized mainly by progressive neurologic deterioration beginning in early infancy. Affected individuals have essentially no psychomotor development and have early-onset seizures with neurologic decline and spasticity. Brain imaging shows severe leukodystrophy with evidence of dys- or delayed myelination. Death usually occurs in early childhood (summary by Shukla et al., 2017).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Most common symptoms of MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

  • Seizures
  • Global developmental delay
  • Spasticity
  • Feeding difficulties
  • Hyperreflexia


More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5; MMDS5

SOURCES: OMIM


Potential gene panels for ISCA1 gene

ISCA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ISCA1 gene.

More info about this panel


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