1. Mendelian
  2. Rare Disease Genes
  3. CCDC170

CCDC170 gene related symptoms and diseases

All the information presented here about the CCDC170 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CCDC170 gene

Symptoms // Phenotype % Cases
Pain Very Common - Between 80% and 100% cases
Increased circulating gonadotropin level Very Common - Between 80% and 100% cases
Elevated tissue non-specific alkaline phosphatase Very Common - Between 80% and 100% cases
Abnormal serum testosterone level Very Common - Between 80% and 100% cases
Abnormality of circulating hormone level Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CCDC170 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Absence of pubertal development
  • Marked delay in bone age
  • Abnormality of the adrenal glands
  • Breast aplasia
  • Enlarged polycystic ovaries
  • Breast hypoplasia
  • Absence of secondary sex characteristics
  • Delayed epiphyseal ossification

And 19 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CCDC170 gene

Here you will find a list of rare diseases related to the CCDC170. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ESTROGEN RESISTANCE SYNDROME

Alternate names

ESTROGEN RESISTANCE SYNDROME Is also known as estrogen insensitivity

Description

Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present.

Most common symptoms of ESTROGEN RESISTANCE SYNDROME

  • Pain
  • Delayed skeletal maturation
  • Osteoporosis
  • Abdominal pain
  • Osteopenia


More info about ESTROGEN RESISTANCE SYNDROME

SOURCES: OMIM ORPHANET



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