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.

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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

SOURCES: MESH OMIM

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

SOURCES: OMIM ORPHANET


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

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

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

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

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

ITPA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ITPA gene.

More info about this panel

Susceptibility to Drugs , Sequencing ITPA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ITPA gene.

More info about this panel

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

Methotrexate response Panel

India.

By Xcode Life Xcode Life

This panel specifically test the ITPA gene.

More info about this panel


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