GNA14 gene related symptoms and diseases

All the information presented here about the GNA14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GNA14 gene

Symptoms // Phenotype % Cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Abnormality of skin pigmentation Uncommon - Between 30% and 50% cases
Sarcoma Uncommon - Between 30% and 50% cases
Vascular skin abnormality Uncommon - Between 30% and 50% cases
Tufted angioma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GNA14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Angiosarcoma
  • Kaposi's sarcoma
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Rare diseases associated to GNA14 gene

Here you will find a list of rare diseases related to the GNA14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TUFTED ANGIOMA


Alternate names

TUFTED ANGIOMA Is also known as tufted angioma, nakagawa angioblastoma

Description

Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.

Most common symptoms of TUFTED ANGIOMA

  • Thrombocytopenia
  • Abnormality of skin pigmentation
  • Sarcoma
  • Vascular skin abnormality
  • Tufted angioma


More info about TUFTED ANGIOMA

SOURCES: ORPHANET OMIM MESH

KAPOSIFORM HEMANGIOENDOTHELIOMA


Description

Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions.


More info about KAPOSIFORM HEMANGIOENDOTHELIOMA

SOURCES: MESH ORPHANET


Potential gene panels for GNA14 gene

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

GNA14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNA14 gene.

More info about this panel


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