NSD2 gene related symptoms and diseases

All the information presented here about the NSD2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NSD2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Abnormality of the genital system Very Common - Between 80% and 100% cases
Chronic otitis media Very Common - Between 80% and 100% cases
Abnormality of the thorax Very Common - Between 80% and 100% cases
Abnormality of the urinary system Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NSD2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hemangioma
  • Sacral dimple
  • Abnormal vertebral morphology
  • Short thumb
  • Abnormal form of the vertebral bodies
  • Preaxial hand polydactyly
  • Split hand
  • Low posterior hairline

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

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Rare diseases associated to NSD2 gene

Here you will find a list of rare diseases related to the NSD2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WOLF-HIRSCHHORN SYNDROME


Alternate names

WOLF-HIRSCHHORN SYNDROME Is also known as distal deletion 4p, distal monosomy 4p, telomeric deletion 4p, 4p- syndrome

Description

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Most common symptoms of WOLF-HIRSCHHORN SYNDROME

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


More info about WOLF-HIRSCHHORN SYNDROME

SOURCES: ORPHANET


Potential gene panels for NSD2 gene

Wolf-Hirschhorn syndrome Panel

United States.

By Cytogenetics Laboratory SUNY Upstate Medical University

This panel specifically test the NSD2 gene.

More info about this panel

Single gene testing WHSC1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the NSD2 gene.

More info about this panel

WHSC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NSD2 gene.

More info about this panel

Focus::MCL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C

More info about this panel

Wolf-Hirschhorn syndrome Panel

Spain.

By Bioarray

This panel specifically test the NSD2 gene.

More info about this panel

FoundationOne® Heme Panel

United States.

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

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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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