1. Mendelian
  2. Rare Disease Genes
  3. RNPC3

RNPC3 gene related symptoms and diseases

All the information presented here about the RNPC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RNPC3 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Frontal bossing Very Common - Between 80% and 100% cases
Obesity Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RNPC3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Delayed skeletal maturation
  • Postnatal growth retardation
  • Growth hormone deficiency
  • Truncal obesity
  • Oligomenorrhea
  • Severe postnatal growth retardation
  • Mild microcephaly

Rare diseases associated to RNPC3 gene

Here you will find a list of rare diseases related to the RNPC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

Alternate names

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia, congenital isolated growth hormone deficiency type ia, congenital isolated gh deficiency type ia

Description

Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

SOURCES: OMIM ORPHANET


Potential gene panels for RNPC3 gene

GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) Panel

Spain.

By Laboratorio de Genetica Clinica SL GROWTH HORMONE DEFICIENCY (PITUITARY DWARFISM) that also includes the following genes: RNPC3 GH1 GH2 GHRHR GHSR

More info about this panel
Spain.

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