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.
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
Search interest in NSD2
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 United States.
Single gene testing WHSC1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the NSD2 gene.
More info about this panel Germany.
WHSC1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NSD2 gene.
More info about this panel United States.
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 United States.
Wolf-Hirschhorn syndrome Panel
Spain.
By Bioarray
This panel specifically test the NSD2 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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