DIS3L2 gene related symptoms and diseases

All the information presented here about the DIS3L2 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 DIS3L2 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Renal insufficiency Very Common - Between 80% and 100% cases
Neoplasm Very Common - Between 80% and 100% cases
Overgrowth Very Common - Between 80% and 100% cases
Nephroblastoma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DIS3L2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Renal neoplasm
  • Not very common - Between 30% and 50% cases

  • Capillary hemangioma
  • Femoral hernia
  • Interrupted aortic arch
  • Visceromegaly
  • Thickened helices
  • Hypoxemia
  • Volvulus

And 98 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DIS3L2 gene

Here you will find a list of rare diseases related to the DIS3L2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PERLMAN SYNDROME


Alternate names

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor, nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome, renal hamartomas, nephroblastomatosis, and fetal gigantism

Description

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Most common symptoms of PERLMAN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about PERLMAN SYNDROME

SOURCES: MESH ORPHANET OMIM

NEPHROBLASTOMA


Alternate names

NEPHROBLASTOMA Is also known as wilms tumor, nephroblastoma, renal embryonic tumor

Description

Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

Most common symptoms of NEPHROBLASTOMA

  • Intellectual disability
  • Neoplasm
  • Hypertension
  • Fever
  • Renal insufficiency


More info about NEPHROBLASTOMA

SOURCES: OMIM ORPHANET


Potential gene panels for DIS3L2 gene

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13

More info about this panel

Perlman Syndrome (sequence analysis of DIS3L2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the DIS3L2 gene.

More info about this panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Portugal.

By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Renal Cancer Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Perlman Syndrome via DIS3L2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DIS3L2 gene.

More info about this panel

Perlman syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the DIS3L2 gene.

More info about this panel

Renal cell carcinoma Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Renal cell carcinoma that also includes the following genes: HNF1B TSC1 TSC2 VHL DICER1 CDKN1B WT1-AS FLCN DIS3L2 MAX

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Macrocephaly Panel

Germany.

By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Hereditary Cancer Syndromes - panels Panel

Germany.

By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

Germany.

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2

More info about this panel

Perlman Syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DIS3L2 gene.

More info about this panel

Cancer Predisposition Panel

Estonia.

By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

Invitae Multi-Cancer Panel Panel

United States.

By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Invitae Renal/Urinary Tract Cancers Panel Panel

United States.

By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1

More info about this panel

Invitae Wilms Tumor Panel Panel

United States.

By Invitae Invitae Wilms Tumor Panel that also includes the following genes: WT1 CDKN1C DIS3L2 GPC3

More info about this panel

Invitae Perlman Syndrome Test Panel

United States.

By Invitae

This panel specifically test the DIS3L2 gene.

More info about this panel

Invitae Pediatric Solid Tumors Panel Panel

United States.

By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11

More info about this panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

United States.

By Invitae Invitae Overgrowth and Macrocephaly Syndromes Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 SETD2 SPRED1 CUL4B DIS3L2 DNMT3A EZH2

More info about this panel

DIS3L2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DIS3L2 gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Renal / Urinary Cancer Comprehensive Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

More info about this panel

Hereditary Pediatric Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Comprehensive Hereditary Cancer Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF

More info about this panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Finland.

By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C

More info about this panel

Hereditary Renal Cancer Panel Panel

Finland.

By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL

More info about this panel

Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel that also includes the following genes: NSD1 CDKN1C TMCO1 SETD2 RNF135 DIS3L2 DNMT3A EZH2 GPC3 NFIX

More info about this panel

DIS3L2 Gene Sequencing and Deletion/Duplication Analysis Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the DIS3L2 gene.

More info about this panel

PERLMAN SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the DIS3L2 gene.

More info about this panel

Perlman Syndrome, Sequencing DIS3L2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DIS3L2 gene.

More info about this panel

Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel

Spain.

By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11

More info about this panel

Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Renal Cancer , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: SDHB SDHD EPCAM HNF1A HNF1B TP53 TSC1 TSC2 VHL WT1

More info about this panel

Phosphorus Renal/Urinary Tract Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2

More info about this panel

Phosphorus Pan-Cancer Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4

More info about this panel

Phosphorus Pediatric Cancers Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM

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

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


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