PIK3CA gene related symptoms and diseases

All the information presented here about the PIK3CA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to PIK3CA gene

Symptoms // Phenotype	% Cases
Neoplasm	Common - Between 50% and 80% cases
Carcinoma	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Nevus	Rare - less than 30% cases
Pain	Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with PIK3CA gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Intellectual disability
Scoliosis
Breast carcinoma
Global developmental delay
Hemimegalencephaly
Overgrowth
Ovarian neoplasm
Failure to thrive

And 407 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PIK3CA gene

Here you will find a list of rare diseases related to the PIK3CA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

LYNCH SYNDROME

Alternate names

LYNCH SYNDROME Is also known as coca2, colon cancer, familial nonpolyposis, type 2, fcc2

Most common symptoms of LYNCH SYNDROME

Seizures
Neoplasm
Muscular hypotonia
Flexion contracture
Visual impairment

More info about LYNCH SYNDROME

SOURCES: ORPHANET OMIM

CLOVES SYNDROME

Alternate names

CLOVES SYNDROME Is also known as cloves syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome, congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome, clove syndrome, congenital lipomatous overgrowth,

Description

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

Most common symptoms of CLOVES SYNDROME

Seizures
Scoliosis
Nystagmus
Cataract
Ptosis

More info about CLOVES SYNDROME

SOURCES: MESH ORPHANET OMIM

KERATOSIS, SEBORRHEIC

Description

Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body.

Most common symptoms of KERATOSIS, SEBORRHEIC

Nevus
Basal cell carcinoma
Verrucae
Seborrheic keratosis

More info about KERATOSIS, SEBORRHEIC

SOURCES: OMIM

HEMIMEGALENCEPHALY

Alternate names

HEMIMEGALENCEPHALY Is also known as unilateral megalencephaly

Description

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.

Most common symptoms of HEMIMEGALENCEPHALY

Seizures
Paralysis
Nevus
Neurofibromas
Hemimegalencephaly

More info about HEMIMEGALENCEPHALY

SOURCES: MESH ORPHANET

PEDIATRIC HEPATOCELLULAR CARCINOMA

Alternate names

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer, lcc, childhood-onset hcc, hcc, liver cell carcinoma, hepatoma, cancer, hepatocellular, childhood-onset hepatocellular carcinoma, pediatric hcc

Description

Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

Microcephaly
Neoplasm
Cryptorchidism
Motor delay
Hepatomegaly

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

SOURCES: OMIM ORPHANET

COWDEN SYNDROME

Alternate names

COWDEN SYNDROME Is also known as bzs, cowden disease, bbrs, macrocephaly, multiple lipomas, and hemangiomata, pten hamartoma tumor syndrome with granular cell tumor, bannayan-zonana syndrome, macrocephaly, pseudopapilledema, and multiple hemangiomata, cs, cd, mham, pten hamartoma tumor syndrome, ri

Description

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

Most common symptoms of COWDEN SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about COWDEN SYNDROME

SOURCES: ORPHANET OMIM

LUNG CANCER

Description

Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Most common symptoms of LUNG CANCER

Neoplasm
Pain
Fatigue
Respiratory distress
Diarrhea

More info about LUNG CANCER

SOURCES: OMIM

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Alternate names

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome, macrocephaly-capillary malformation syndrome, mcmtc, mcap, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita syndrome, mcm

Description

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

Most common symptoms of MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Intellectual disability
Global developmental delay
Neoplasm
Failure to thrive
Muscular hypotonia

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

SOURCES: ORPHANET

CUTIS MARMORATA TELANGIECTATICA CONGENITA

Alternate names

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita, cmtc, mcmtc, megalencephaly-capillary malformation syndrome, macrocephaly-cutis marmorata telangiectatica congenita, mcm, macrocephaly-capillary malformation

Description

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

Most common symptoms of CUTIS MARMORATA TELANGIECTATICA CONGENITA

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

SOURCES: OMIM ORPHANET

NEUROBLASTOMA

Description

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Most common symptoms of NEUROBLASTOMA

Ataxia
Neoplasm
Failure to thrive
Pain
Anemia

More info about NEUROBLASTOMA

SOURCES: ORPHANET OMIM

OVARIAN CANCER

Description

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Most common symptoms of OVARIAN CANCER

Neoplasm
Pain
Fatigue
Respiratory distress
Vomiting

More info about OVARIAN CANCER

SOURCES: OMIM ORPHANET

COLORECTAL CANCER; CRC

Alternate names

COLORECTAL CANCER; CRC Is also known as colon cancer

Description

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

Neoplasm
Carcinoma
Oligodontia
Colon cancer
Colitis

More info about COLORECTAL CANCER; CRC

SOURCES: OMIM

NEVUS, EPIDERMAL

Alternate names

NEVUS, EPIDERMAL Is also known as nevus, keratinocytic, nonepidermolytic

Description

Epidermal nevi are congenital lesions that affect about 1 in 1,000 people. They appear at or shortly after birth as localized epidermal thickening with hyperpigmentation that frequently follow the lines of Blaschko, suggesting that they result from postzygotic somatic mutation in the skin (Paller et al., 1994).A rare subgroup of epidermal nevi is clinically indistinguishable from other epidermal nevi, but displays histopathologic features typical of epidermolytic hyperkeratosis (see EHK, {113800}), and patients with this type of epidermal nevi sometimes have offspring with generalized EHK (Paller et al., 1994).Woolly hair nevus is a rare condition characterized by the development of woolly hair in a restricted area on the scalp, either present at birth or becoming evident later in life when scalp hair begins to grow. Woolly hair nevus can be an isolated finding or can occur in association with additional ectodermal defects; epidermal nevi have been reported in association with woolly hair nevi (summary by Ramot and Zlotogorski, 2015).Nevus sebaceous, a benign congenital skin lesion that preferentially affects the scalp and face, is characterized by hairless, yellow-orange plaques of various size and shape. Histology shows that nevus sebaceous is a hamartoma consisting of epidermal, sebaceous, and apocrine elements. About 24% of nevi develop secondary tumors, some of which may be malignant (summary by Groesser et al., 2012).Also see giant pigmented hairy nevus (OMIM ) and malignant melanoma (OMIM ).

Most common symptoms of NEVUS, EPIDERMAL

Global developmental delay
Hyperkeratosis
Palmoplantar keratoderma
Nevus
Epidermal acanthosis

More info about NEVUS, EPIDERMAL

SOURCES: OMIM

BREAST CANCER

Alternate names

BREAST CANCER Is also known as breast cancer, familial

Description

Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

Most common symptoms of BREAST CANCER

Neoplasm
Pain
Carcinoma
Gynecomastia
Breast carcinoma

More info about BREAST CANCER

SOURCES: ORPHANET OMIM

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Alternate names

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME Is also known as hhml

Description

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

Most common symptoms of HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Intellectual disability
Seizures
Generalized hypotonia
Scoliosis
Neoplasm

More info about HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

SOURCES: ORPHANET

COWDEN SYNDROME 5; CWS5

Most common symptoms of COWDEN SYNDROME 5; CWS5

Intellectual disability
Seizures
Hearing impairment
Scoliosis
Micrognathia

More info about COWDEN SYNDROME 5; CWS5

SOURCES: OMIM

GASTRIC CANCER

Description

In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer.Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see {120435}), familial adenomatous polyposis (FAP ), Peutz-Jeghers syndrome (PJS ), Cowden disease (CD ), and the Li-Fraumeni syndrome (OMIM ). See also hereditary diffuse gastric cancer (HDGC ).Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see {600263}).

Most common symptoms of GASTRIC CANCER

Neoplasm
Carcinoma
Nephroblastoma
Colon cancer
Neoplasm of the lung

More info about GASTRIC CANCER

SOURCES: OMIM ORPHANET

ADULT HEPATOCELLULAR CARCINOMA

Alternate names

ADULT HEPATOCELLULAR CARCINOMA Is also known as adult hcc

Description

Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure.

More info about ADULT HEPATOCELLULAR CARCINOMA

SOURCES: ORPHANET

MACRODACTYLY OF FINGERS, UNILATERAL

Alternate names

MACRODACTYLY OF FINGERS, UNILATERAL Is also known as macrodactyly of hand, unilateral

More info about MACRODACTYLY OF FINGERS, UNILATERAL

SOURCES: ORPHANET

MACRODACTYLY OF TOES, UNILATERAL

Alternate names

MACRODACTYLY OF TOES, UNILATERAL Is also known as macrodactyly of foot, unilateral

More info about MACRODACTYLY OF TOES, UNILATERAL

SOURCES: ORPHANET

SEGMENTAL PROGRESSIVE OVERGROWTH SYNDROME WITH FIBROADIPOSE HYPERPLASIA

More info about SEGMENTAL PROGRESSIVE OVERGROWTH SYNDROME WITH FIBROADIPOSE HYPERPLASIA

SOURCES: ORPHANET

Search interest in PIK3CA

Potential gene panels for PIK3CA gene

Comprehensive Brain Malformation Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8

PIK3CA gene related symptoms and diseases

Top 5 symptoms and clinical features associated to PIK3CA gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to PIK3CA gene

LYNCH SYNDROME

Alternate names

Most common symptoms of LYNCH SYNDROME

CLOVES SYNDROME

Alternate names

Description

Most common symptoms of CLOVES SYNDROME

KERATOSIS, SEBORRHEIC

Description

Most common symptoms of KERATOSIS, SEBORRHEIC

HEMIMEGALENCEPHALY

Alternate names

Description

Most common symptoms of HEMIMEGALENCEPHALY

PEDIATRIC HEPATOCELLULAR CARCINOMA

Alternate names

Description

Most common symptoms of PEDIATRIC HEPATOCELLULAR CARCINOMA

COWDEN SYNDROME

Alternate names

Description

Most common symptoms of COWDEN SYNDROME

LUNG CANCER

Description

Most common symptoms of LUNG CANCER

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Alternate names

Description

Most common symptoms of MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

CUTIS MARMORATA TELANGIECTATICA CONGENITA

Alternate names

Description

Most common symptoms of CUTIS MARMORATA TELANGIECTATICA CONGENITA

NEUROBLASTOMA

Description

Most common symptoms of NEUROBLASTOMA

OVARIAN CANCER

Description

Most common symptoms of OVARIAN CANCER

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

NEVUS, EPIDERMAL

Alternate names

Description

Most common symptoms of NEVUS, EPIDERMAL

BREAST CANCER

Alternate names

Description

Most common symptoms of BREAST CANCER

HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

Alternate names

Description

Most common symptoms of HEMIHYPERPLASIA-MULTIPLE LIPOMATOSIS SYNDROME

COWDEN SYNDROME 5; CWS5

Most common symptoms of COWDEN SYNDROME 5; CWS5

GASTRIC CANCER

Description

Most common symptoms of GASTRIC CANCER

ADULT HEPATOCELLULAR CARCINOMA

Alternate names

Description

MACRODACTYLY OF FINGERS, UNILATERAL

Alternate names

MACRODACTYLY OF TOES, UNILATERAL

Alternate names

SEGMENTAL PROGRESSIVE OVERGROWTH SYNDROME WITH FIBROADIPOSE HYPERPLASIA

Search interest in PIK3CA

Potential gene panels for PIK3CA gene

Comprehensive Brain Malformation Panel Panel

Macrocephaly Panel

PIK3CA sequence analysis (Somatic) Panel

Somatic Overgrowth Gene Panel Panel

PIK3CA Sequencing Panel