ITPA gene related symptoms and diseases
All the information presented here about the ITPA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ITPA gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Irritability | Uncommon - Between 30% and 50% cases |
| Delayed CNS myelination | Uncommon - Between 30% and 50% cases |
| High pitched voice | Uncommon - Between 30% and 50% cases |
| Severe muscular hypotonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ITPA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Status epilepticus
- Epileptic encephalopathy
- Delayed myelination
- Brain atrophy
- Encephalopathy
- Global developmental delay
- Cerebral atrophy
- Cardiomyopathy
And 6 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ITPA gene
Here you will find a list of rare diseases related to the ITPA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INOSINE TRIPHOSPHATASE DEFICIENCY
Alternate names
INOSINE TRIPHOSPHATASE DEFICIENCY Is also known as inosine triphosphate pyrophosphohydrolase deficiency
Description
Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002).
More info about INOSINE TRIPHOSPHATASE DEFICIENCY
ITPA-RELATED ENCEPHALOPATHY
Description
Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.
Most common symptoms of ITPA-RELATED ENCEPHALOPATHY
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Cataract
More info about ITPA-RELATED ENCEPHALOPATHY
Search interest in ITPA
Potential gene panels for ITPA gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
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.
Inosine triphosphatase deficiency (ITPA) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ITPA gene.
More info about this panel Netherlands.
Epilepsy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 ST3GAL5 SLC35A2 SLC35A3 SLC6A1 SLC6A8
More info about this panel Estonia.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
ITPA Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ITPA gene.
More info about this panel United States.
Susceptibility to Drugs , Sequencing ITPA Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ITPA gene.
More info about this panel Spain.
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes Panel
Spain.
By Reference Laboratory Genetics Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: SCN1A SCN2A SCN8A SCN9A ST3GAL3 SLC1A2 SLC25A12 SPTAN1 CDKL5 STXBP1
More info about this panel Spain.
Methotrexate response Panel
India.
By Xcode Life Xcode Life
This panel specifically test the ITPA gene.
More info about this panel India.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MCPH1-AS1 NCAPD3 PEX19 SCN11A A4GALT DHDDS CA5A