DPF2 gene related symptoms and diseases

All the information presented here about the DPF2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DPF2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Strabismus Very Common - Between 80% and 100% cases
Wide mouth Very Common - Between 80% and 100% cases
Thick eyebrow Very Common - Between 80% and 100% cases
Wide nasal bridge Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DPF2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Depressed nasal bridge
  • Coarse facial features
  • Feeding difficulties in infancy
  • Hearing impairment
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Feeding difficulties
  • Abnormality of the skeletal system
  • Downslanted palpebral fissures

And 72 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to DPF2 gene

Here you will find a list of rare diseases related to the DPF2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COFFIN-SIRIS SYNDROME


Alternate names

COFFIN-SIRIS SYNDROME Is also known as css

Description

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Most common symptoms of COFFIN-SIRIS SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


More info about COFFIN-SIRIS SYNDROME

SOURCES: ORPHANET

COFFIN-SIRIS SYNDROME 7; CSS7


Description

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Most common symptoms of COFFIN-SIRIS SYNDROME 7; CSS7

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


More info about COFFIN-SIRIS SYNDROME 7; CSS7

SOURCES: OMIM


Potential gene panels for DPF2 gene

DPF2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DPF2 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNH1 HFE KDM2B WIPF1 MSH6 FIBP COL17A1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more