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.
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
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
Search interest in NDST1
Potential gene panels for NDST1 gene
Non-Specific Intellectual Disability Panel Panel
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 panelNon-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
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 panelMental retardation, autosomal recessive type 46 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the NDST1 gene.
More info about this panelAllNeuro panel Panel
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 panelNDST1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NDST1 gene.
More info about this panelMental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel
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 panelAutosomal Recessive Mental Retardation, Panel Massive Sequencing (NGS) 32 Genes Panel
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
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