HMMR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HMMR gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Prostate cancer Very Common - Between 80% and 100% cases
Beta-cell dysfunction Uncommon - Between 30% and 50% cases
Menstrual irregularities Uncommon - Between 30% and 50% cases
Enlarged polycystic ovaries Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Frontal balding
  • Hypopnea
  • Conjunctival hyperemia
  • Enlarged ovaries
  • Pain
  • Adrenal hyperplasia
  • Carcinoma
  • Gynecomastia

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to HMMR gene

Here you will find a list of rare diseases related to the HMMR. 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

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


Potential gene panels for HMMR gene

HMMR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HMMR gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV POMGNT2 CDKAL1 HSD3B1 PTCHD1 ST14 SLX4