NDST1 gene related symptoms and diseases

All the information presented here about the NDST1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NDST1 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Gastrointestinal obstruction Uncommon - Between 30% and 50% cases
Schwannoma Uncommon - Between 30% and 50% cases
Gastrointestinal stroma tumor Uncommon - Between 30% and 50% cases
Leiomyosarcoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NDST1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Soft tissue sarcoma
  • Mastocytosis
  • Neoplasm of the small intestine
  • Neoplasm of the rectum
  • Esophageal neoplasm
  • Neoplasm of the colon
  • Neoplasm of the stomach
  • Neoplasm of the gastrointestinal tract

And 38 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NDST1 gene

Here you will find a list of rare diseases related to the NDST1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GASTROINTESTINAL STROMAL TUMOR


Alternate names

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma, gist

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Most common symptoms of GASTROINTESTINAL STROMAL TUMOR

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


More info about GASTROINTESTINAL STROMAL TUMOR

SOURCES: OMIM ORPHANET MESH

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46

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


More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46; MRT46

SOURCES: OMIM

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY


Alternate names

AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid


More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET


Potential gene panels for NDST1 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

More info about this panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Mental retardation, autosomal recessive type 46 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDST1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

NDST1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NDST1 gene.

More info about this panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

Spain.

By Reference Laboratory Genetics Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes that also includes the following genes: RPS6KA3 ST3GAL3 SLC6A8 SMARCA4 SMARCB1 ARID1A KDM5C STXBP1 SYNGAP1 SYP

More info about this panel

Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: ST3GAL3 STXBP1 TAF2 VLDLR ERLIN2 CA8 CNTNAP2 FMN2 ZC3H14 CRADD

More info about this panel


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