STON1-GTF2A1L gene related symptoms and diseases

All the information presented here about the STON1-GTF2A1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to STON1-GTF2A1L gene

Symptoms // Phenotype % Cases
Acne Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases
Attention deficit hyperactivity disorder Uncommon - Between 30% and 50% cases
Enlarged polycystic ovaries Uncommon - Between 30% and 50% cases
Frontal balding Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with STON1-GTF2A1L gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hypopnea
  • Conjunctival hyperemia
  • Enlarged ovaries
  • Beta-cell dysfunction
  • Behavioral abnormality
  • Decreased testicular size
  • Menstrual irregularities
  • Tall stature

And 32 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to STON1-GTF2A1L gene

Here you will find a list of rare diseases related to the STON1-GTF2A1L. 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

FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY


Alternate names

FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY Is also known as sexual precocity, familial, gonadotropin-independent, testotoxicosis, familial, familial gonadotropin-independent male-limited sexual precocity, fmpp, male-limited precocious puberty, testotoxicosis

Description

Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.

Most common symptoms of FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY

  • Behavioral abnormality
  • Attention deficit hyperactivity disorder
  • Decreased testicular size
  • Tall stature
  • Abnormality of the hair


More info about FAMILIAL MALE-LIMITED PRECOCIOUS PUBERTY

SOURCES: OMIM ORPHANET




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