AKT1 gene related symptoms and diseases

All the information presented here about the AKT1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, 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 AKT1 gene

Symptoms // Phenotype	% Cases
Neoplasm	Common - Between 50% and 80% cases
Carcinoma	Common - Between 50% and 80% cases
Pain	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Breast carcinoma	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AKT1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Ovarian neoplasm
Transitional cell carcinoma of the bladder
Endometrial carcinoma
Gynecomastia
Meningioma
Myopia
Cataract
Palmoplantar hyperkeratosis

And 312 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to AKT1 gene

Here you will find a list of rare diseases related to the AKT1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

Leukemia
Acute promyelocytic leukemia
Abnormal granulocytopoietic cell morphology

More info about ACUTE PROMYELOCYTIC LEUKEMIA

SOURCES: OMIM ORPHANET MESH

PROTEUS SYNDROME

Alternate names

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Description

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

Most common symptoms of PROTEUS SYNDROME

Intellectual disability
Seizures
Scoliosis
Hypertelorism
Nystagmus

More info about PROTEUS SYNDROME

SOURCES: ORPHANET OMIM MESH

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

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

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

SCHIZOPHRENIA; SCZD

Alternate names

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Description

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

Most common symptoms of SCHIZOPHRENIA; SCZD

Intellectual disability
Microcephaly
Behavioral abnormality
Depressivity
Dementia

More info about SCHIZOPHRENIA; SCZD

SOURCES: OMIM

COWDEN SYNDROME 6; CWS6

Most common symptoms of COWDEN SYNDROME 6; CWS6

Intellectual disability
Seizures
Hearing impairment
Scoliosis
Micrognathia

More info about COWDEN SYNDROME 6; CWS6

SOURCES: OMIM

Search interest in AKT1

Potential gene panels for AKT1 gene

Somatic Overgrowth Gene Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Somatic Overgrowth Gene Panel that also includes the following genes: AKT1 AKT2 AKT3 MTOR GNA11 GNAQ PIK3CA PIK3R2

AKT1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to AKT1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to AKT1 gene

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

PROTEUS SYNDROME

Alternate names

Description

Most common symptoms of PROTEUS SYNDROME

COWDEN SYNDROME

Alternate names

Description

Most common symptoms of COWDEN SYNDROME

OVARIAN CANCER

Description

Most common symptoms of OVARIAN CANCER

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

BREAST CANCER

Alternate names

Description

Most common symptoms of BREAST CANCER

SCHIZOPHRENIA; SCZD

Alternate names

Description

Most common symptoms of SCHIZOPHRENIA; SCZD

COWDEN SYNDROME 6; CWS6

Most common symptoms of COWDEN SYNDROME 6; CWS6

Search interest in AKT1

Potential gene panels for AKT1 gene

Somatic Overgrowth Gene Panel Panel

Hereditary Thyroid Cancer Panel Panel

AKT1 Panel

Segmental Overgrowth Disorders - NGS panel (8 genes) Panel

Proteus Syndrome (sequence analysis of AKT1 gene) Panel

Proteus syndrome (frequent somatic mutation, p.Glu17Lys on AKT1 gene) Panel

Cowden syndrome 6 (sequence analysis of AKT1 gene) Panel

Custom solid tumor gene sequencing panel Panel

Macrocephaly Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Megalencephaly Panel

Cancer Hotspot Panel Panel

Solid Tumor Panel Panel

AllNeuro panel Panel

Cowden disease Panel

Disorders associated with malignancy Panel Panel

Familial Tumor Syndromes Panel Panel

AKT1 Gene Sequencing Panel

Invitae Proteus Syndrome Test Panel

Proteus Syndrome: AKT1 gene sequence analysis Panel

Proteus syndrome, somatic: AKT1 gene mutation analysis (p.Glu17Lys) Panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Nuclear-Mito NGS Panel Panel

AKT1 Panel

Onco microarray for CLL Panel

Hemato-oncology chromosomal microarray Panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Focus::Oncomine™ NGS Panel Panel

Focus::Renal® NGS Panel Panel

Somatic Overgrowth Gene Set Panel

Solid Tumor Gene Set Panel

CNS Tumor Gene Set Panel

Melanoma Gene Set Panel

Breast Tumors Gene Set Panel

Genitourinary Tumors Gene Set Panel

Gynecologic Tumors Gene Set Panel

Head & Neck Tumors Gene Set Panel

Thoracic Tumors Gene Set Panel

Cowden Syndrome NGS and Deletion/Duplication Panel Panel

AKT1 Gene Sequencing and Deletion/Duplication Analysis Panel