HMGA2 gene related symptoms and diseases

All the information presented here about the HMGA2 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 HMGA2 gene

Symptoms // Phenotype % Cases
Neoplasm Rare - less than 30% cases
Frontal balding Rare - less than 30% cases
Prolactin excess Rare - less than 30% cases
Adrenal hyperplasia Rare - less than 30% cases
Abnormality of the ovary Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with HMGA2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Menstrual irregularities
  • Prostate cancer
  • Enlarged polycystic ovaries
  • Hypopnea
  • Obstructive sleep apnea
  • Conjunctival hyperemia
  • Enlarged ovaries
  • Beta-cell dysfunction

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HMGA2 gene

Here you will find a list of rare diseases related to the HMGA2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

PLEOMORPHIC SALIVARY GLAND ADENOMA

Alternate names

PLEOMORPHIC SALIVARY GLAND ADENOMA Is also known as psa, sgpa

Description

A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma.

Most common symptoms of PLEOMORPHIC SALIVARY GLAND ADENOMA

  • Salivary gland neoplasm


More info about PLEOMORPHIC SALIVARY GLAND ADENOMA

SOURCES: MESH ORPHANET OMIM

DEDIFFERENTIATED LIPOSARCOMA

Alternate names

DEDIFFERENTIATED LIPOSARCOMA Is also known as ddls

Description

Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .


More info about DEDIFFERENTIATED LIPOSARCOMA

SOURCES: ORPHANET

LEIOMYOMA, UTERINE; UL

Description

Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight. Many women with fibroids have no symptoms. If you do have symptoms, they may include Heavy or painful periods or bleeding between periods Feeling "full" in the lower abdomen Urinating often Pain during sex Lower back pain Reproductive problems, such as infertility, multiple miscarriages or early labor Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help. NIH: National Institute of Child Health and Human Development

Most common symptoms of LEIOMYOMA, UTERINE; UL

  • Uterine leiomyoma


More info about LEIOMYOMA, UTERINE; UL

SOURCES: OMIM

WELL-DIFFERENTIATED LIPOSARCOMA

Alternate names

WELL-DIFFERENTIATED LIPOSARCOMA Is also known as alt, atypical lipoma, wdls, atypical lipomatous tumor

Description

Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.

Most common symptoms of WELL-DIFFERENTIATED LIPOSARCOMA

  • Subcutaneous nodule
  • Gastrointestinal dysmotility
  • Abnormal renal physiology


More info about WELL-DIFFERENTIATED LIPOSARCOMA

SOURCES: ORPHANET


Potential gene panels for HMGA2 gene

HMGA2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HMGA2 gene.

More info about this panel
United States.

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
United States.

Uterine Leiomyoma (Somatic Mutations) , Sequencing HMGA2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HMGA2 gene.

More info about this panel
Spain.

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
United States.

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