ISCA2 gene related symptoms and diseases
All the information presented here about the ISCA2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ISCA2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Joint laxity | Uncommon - Between 30% and 50% cases |
| Short 4th metacarpal | Uncommon - Between 30% and 50% cases |
| Recurrent lower respiratory tract infections | Uncommon - Between 30% and 50% cases |
| Abnormality of the periventricular white matter | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ISCA2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of mitochondrial metabolism
- Leukodystrophy
- Toe syndactyly
- Abnormality of the cerebral white matter
- Developmental regression
- Muscular hypotonia of the trunk
- Respiratory failure
- Generalized hypotonia
And 11 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ISCA2 gene
Here you will find a list of rare diseases related to the ISCA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 4
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4
Description
MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).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 4; MMDS4
- Seizures
- Generalized hypotonia
- Nystagmus
- Spasticity
- Feeding difficulties
More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4
Search interest in ISCA2
Potential gene panels for ISCA2 gene
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
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.
Multiple mitochondrial dysfunctions syndrome type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ISCA2 gene.
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
ISCA2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ISCA2 gene.
More info about this panel United States.
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