1. Mendelian
  2. Rare Disease Genes
  3. PPM1B

PPM1B gene related symptoms and diseases

All the information presented here about the PPM1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PPM1B gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Low-set, posteriorly rotated ears Very Common - Between 80% and 100% cases
Cystinuria Very Common - Between 80% and 100% cases
Nasal speech Very Common - Between 80% and 100% cases
Hypocalcemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PPM1B gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Nephrolithiasis
  • Long eyelashes
  • Decreased fetal movement
  • Lactic acidosis
  • Intellectual disability, moderate
  • Global developmental delay
  • Hypoglycemia
  • Hypogonadism

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PPM1B gene

Here you will find a list of rare diseases related to the PPM1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


2P21 MICRODELETION SYNDROME

Alternate names

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome, monosomy 2p21, del(2)(p21)

Description

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

Most common symptoms of 2P21 MICRODELETION SYNDROME

  • Seizures
  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


More info about 2P21 MICRODELETION SYNDROME

SOURCES: ORPHANET


Potential gene panels for PPM1B gene

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel
United States.

PPM1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPM1B gene.

More info about this panel
United States.

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