PPM1D gene related symptoms and diseases

All the information presented here about the PPM1D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PPM1D gene

Symptoms // Phenotype % Cases
Pain Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PPM1D gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Posteriorly rotated ears
  • Hyperactivity
  • Autism
  • Gastroesophageal reflux
  • Thin upper lip vermilion
  • Anxiety
  • Hyperlordosis
  • Low-set, posteriorly rotated ears

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PPM1D gene

Here you will find a list of rare diseases related to the PPM1D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY BREAST CANCER


Alternate names

HEREDITARY BREAST CANCER Is also known as familial breast cancer, familial breast carcinoma, hereditary breast carcinoma


More info about HEREDITARY BREAST CANCER

SOURCES: ORPHANET

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

INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP


Description

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Most common symptoms of INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Strabismus


More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

SOURCES: OMIM


Potential gene panels for PPM1D gene

PPM1D Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPM1D gene.

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Hereditary Cancer Comprehensive Panel Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Hereditary Cancer Comprehensive Panel that also includes the following genes: RUNX1 SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TERC

More info about this panel

BREAST AND OVARIAN CANCER NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL BREAST AND OVARIAN CANCER NGS PANEL that also includes the following genes: BLM BRCA1 BRCA2 STK11 EPCAM TP53 WRN CDH1 PSMC3IP TNFRSF13B

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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