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.
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
Search interest in ISCA1
Potential gene panels for ISCA1 gene
ISCA1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ISCA1 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 SAMD11 TLE6 KRT6B ABCD3 CSTB CHST14 PRCD