PI4KA gene related symptoms and diseases

All the information presented here about the PI4KA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PI4KA gene

Symptoms // Phenotype % Cases
Perisylvian polymicrogyria Common - Between 50% and 80% cases
Polymicrogyria Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Disseminated intravascular coagulation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PI4KA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Recurrent deep vein thrombosis
  • Post-angioplasty coronary artery restenosis
  • Micrognathia
  • Talipes equinovarus
  • Pulmonary embolism
  • Cerebellar hypoplasia
  • Dolichocephaly
  • Arthrogryposis multiplex congenita

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to PI4KA gene

Here you will find a list of rare diseases related to the PI4KA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BILATERAL PERISYLVIAN POLYMICROGYRIA


Alternate names

BILATERAL PERISYLVIAN POLYMICROGYRIA Is also known as perisylvian syndrome, congenital bilateral, bpp, cbps, pmgx

Description

Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993).PMG may be a feature of other conditions as well (see, e.g., {300643}).

Most common symptoms of BILATERAL PERISYLVIAN POLYMICROGYRIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Delayed speech and language development


More info about BILATERAL PERISYLVIAN POLYMICROGYRIA

SOURCES: OMIM ORPHANET

HEPARIN COFACTOR II DEFICIENCY


Alternate names

HEPARIN COFACTOR II DEFICIENCY Is also known as thrombophilia due to heparin cofactor ii deficiency, thph10, hcf ii deficiency, hcf2 deficiency

Description

Heparin cofactor II (HCF2 ) rapidly inhibits thrombin in plasma in the presence of dermatan sulfate or heparin. Congenital HCF2 deficiency is associated with thromboembolism and is classified into type I (quantitative) or type II (qualitative) deficiency (Kondo et al., 1996).

Most common symptoms of HEPARIN COFACTOR II DEFICIENCY

  • Venous thrombosis
  • Thromboembolism
  • Pulmonary embolism
  • Deep venous thrombosis
  • Disseminated intravascular coagulation


More info about HEPARIN COFACTOR II DEFICIENCY

SOURCES: OMIM MESH

POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA


Most common symptoms of POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA

  • Micrognathia
  • Flexion contracture
  • Talipes equinovarus
  • Cerebellar hypoplasia
  • Dolichocephaly


More info about POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS; PMGYCHA

SOURCES: OMIM


Potential gene panels for PI4KA gene

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PI4KA gene.

More info about this panel

PI4KA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PI4KA gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NCKAP5 TUBB8 AK1 HOXD13 UNC93B1 DMRT2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more