AKT2 gene related symptoms and diseases

All the information presented here about the AKT2 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.

Top 5 symptoms and clinical features associated to AKT2 gene

Symptoms // Phenotype % Cases
Insulin resistance Common - Between 50% and 80% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hepatic steatosis Uncommon - Between 30% and 50% cases
Hypoglycemic coma Uncommon - Between 30% and 50% cases
Follicular hyperplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AKT2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Increased hepatic glycogen content
  • Enlarged tonsils
  • Increased circulating free fatty acid level
  • Abnormal circulating insulin level
  • Hepatomegaly
  • Acanthosis nigricans
  • Hypertriglyceridemia
  • Hypoglycemic seizures

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AKT2 gene

Here you will find a list of rare diseases related to the AKT2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM


Alternate names

DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM Is also known as noninsulin-dependent diabetes mellitus, maturity-onset diabetes, diabetes mellitus, type ii, t2d

Most common symptoms of DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

  • Diabetes mellitus
  • Type II diabetes mellitus
  • Insulin resistance
  • Type I diabetes mellitus
  • Hyperinsulinemia


More info about DIABETES MELLITUS, NONINSULIN-DEPENDENT; NIDDM

SOURCES: OMIM ORPHANET

HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY


Description

Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures.

Most common symptoms of HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

  • Seizures
  • Hyperhidrosis
  • Hypoglycemia
  • Autoimmunity
  • Overgrowth


More info about HYPOINSULINEMIC HYPOGLYCEMIA AND BODY HEMIHYPERTROPHY

SOURCES: OMIM ORPHANET

AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


Alternate names

AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as akt2-related fpld

Most common symptoms of AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

  • Hepatomegaly
  • Hepatic steatosis
  • Hypertriglyceridemia
  • Insulin resistance
  • Acanthosis nigricans


More info about AKT2-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

SOURCES: ORPHANET


Potential gene panels for AKT2 gene

Maturity-Onset Diabetes of the Young Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Maturity-Onset Diabetes of the Young that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 IER3IP1 RFX6 CP

More info about this panel

Maturity-onset Diabetes of the Young Panel Panel

United States.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine Maturity-onset Diabetes of the Young Panel that also includes the following genes: BLK HNF1A HNF1B KLF11 CEL AKT2 GCK HNF4A ABCC8 INS

More info about this panel

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

More info about this panel

Partial Lipodystrophy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1

More info about this panel

Comprehensive Lipodystrophy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Deletion/Duplication Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Comprehensive Lipodystrophy Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC ADRA2A AGPAT2 FBN1 AKT2 KCNJ6

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Partial Lipodystrophy Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Partial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 TBC1D4 CIDEC ADRA2A AKT2 LIPE LMNA LMNB2 PIK3R1

More info about this panel

AKT2 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the AKT2 gene.

More info about this panel

AKT2 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the AKT2 gene.

More info about this panel

Lipodystrophies (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA

More info about this panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

More info about this panel

Lipodystrophies (NGS panel for 17 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies (NGS panel for 17 genes) that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 FBN1 AKT2 LIPE LMNA

More info about this panel

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) Panel

Portugal.

By CGC Genetics Lipodystrophies and progeroid syndromes (NGS panel for 25 genes) that also includes the following genes: BLM WRN ZMPSTE24 CAV1 BSCL2 BANF1 TBC1D4 CIDEC SPRTN AGPAT2

More info about this panel

Lipodystrophy - panel diagnostics Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Lipodystrophy - panel diagnostics that also includes the following genes: CIDEC AKT2 LMNA PLIN1 PPARG

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

Diabetes mellitus, noninsulin-dependent Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AKT2 gene.

More info about this panel

Hypoinsulinemic hypoglycemia with hemihypertrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AKT2 gene.

More info about this panel

Mixed hyperlipidemias Panel

Spain.

By Health in Code Mixed hyperlipidemias that also includes the following genes: ZMPSTE24 CAV1 BSCL2 INSIG2 CIDEC AGPAT2 AKT2 INSR LEP LMNA

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Dyslipidemias / Early atherosclerosis Panel

Spain.

By Health in Code Dyslipidemias / Early atherosclerosis that also includes the following genes: RYR1 SAR1B BLK SLCO1B1 SLC22A8 SLC2A2 HNF1A HNF1B KLF11 WFS1

More info about this panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

United States.

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2

More info about this panel

Endocrine Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Sequencing Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Endocrine Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Disorders: Deletion/Duplication Panel that also includes the following genes: BLK BMP15 SLC2A2 TAC3 TACR3 HNF1A HNF1B KLF11 WFS1 ZMPSTE24

More info about this panel

Lipodystrophy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Lipodystrophy NGS Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 CIDEC AGPAT2 AKT2 LMNA PPARG CAVIN1

More info about this panel

MODY Neonatal Diabetes NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics MODY Neonatal Diabetes NGS Panel that also includes the following genes: BLK SLC2A2 HNF1A HNF1B KLF11 WFS1 NEUROG3 CEL IER3IP1 ZFP57

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

AKT2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AKT2 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Congenital and Familial Lipodystrophy Panel Panel

Finland.

By Blueprint Genetics Congenital and Familial Lipodystrophy Panel that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 AGPAT2 AKT2 LIPE LMNA PLIN1 PPARG

More info about this panel

Focus::Renal® NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Renal® NGS Panel that also includes the following genes: RHEB ROS1 BRAF ARID1A KDM5C SMO TP53 TSC1 TSC2 VHL

More info about this panel

Somatic Overgrowth Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Somatic Overgrowth Gene Set that also includes the following genes: SMO TSC1 TSC2 AKT1 AKT2 AKT3 MTOR GNA11 GNAQ IDH1

More info about this panel

Solid Tumor Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C

More info about this panel

Genitourinary Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Genitourinary Tumors Gene Set that also includes the following genes: RXRA BRAF BRCA1 BRCA2 KDM5C STAG2 TERT MED12 TP53 TSC1

More info about this panel

Gynecologic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Gynecologic Tumors Gene Set that also includes the following genes: FOXL2 BRAF BRCA1 BRCA2 SMO STK11 MED12 TP53 VHL CCND1

More info about this panel

Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

More info about this panel

Thoracic Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL LIPODYSTROPHY, FAMILIAL PARTIAL AND CONGENITAL NGS PANEL that also includes the following genes: ZMPSTE24 CAV1 BSCL2 TBC1D4 MLIP CIDEC AGPAT2 FOS AKT2 LIPE

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

United States.

By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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