PASK gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PASK gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Broad nasal tip Very Common - Between 80% and 100% cases
Broad-based gait Very Common - Between 80% and 100% cases
Sparse scalp hair Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Narrow forehead
  • Eczema
  • Wide intermamillary distance
  • Underdeveloped nasal alae
  • Short metacarpal
  • Round face
  • Sleep disturbance
  • Short phalanx of finger

And 88 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PASK gene

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


2Q37 MICRODELETION SYNDROME


Alternate names

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome, del(2)(q37), monosomy 2q37-qter, brachydactyly-intellectual disability syndrome, albright hereditary osteodystrophy type 3, brachydactyly-mental retardation syndrome, bdmr, deletion 2q37-qter, deletion 2q37

Description

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

Most common symptoms of 2Q37 MICRODELETION SYNDROME

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


More info about 2Q37 MICRODELETION SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for PASK gene

PASK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PASK gene.

More info about this panel

FoundationOneĀ® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOneĀ® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel


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