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: HGNC,NCBIGENE,ORPHANET,OMIM.

Top 5 symptoms associated to DPF2 gene



Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Elbow dislocation Very Common - Between 80% and 100% cases
Short distal phalanx of finger Very Common - Between 80% and 100% cases
Thick lower lip vermilion Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with DPF2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Depressed nasal ridge

Not very common - Between 30% and 50% cases

Dandy-Walker malformation

Commonly - More than 50% cases

Long eyelashes

Not very common - Between 30% and 50% cases

Generalized hirsutism

Commonly - More than 50% cases

Bilateral single transverse palmar creases

Not very common - Between 30% and 50% cases

Spina bifida occulta

Commonly - More than 50% cases

Coxa valga

Not very common - Between 30% and 50% cases

Renal hypoplasia/aplasia

And 45 more phenotypes.

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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: UMLS SCTID ORPHANET

Potential gene panels for DPF2 gene

DPF2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the DPF2 gene.

More info about this panel


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