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.

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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



More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME TYPE 4

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

ISCA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ISCA2 gene.

More info about this panel


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