ASCC1 gene related symptoms and diseases
All the information presented here about the ASCC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASCC1 gene
Symptoms // Phenotype | % Cases |
---|---|
Dysphagia | Common - Between 50% and 80% cases |
Decreased fetal movement | Uncommon - Between 30% and 50% cases |
Areflexia | Uncommon - Between 30% and 50% cases |
Respiratory failure | Uncommon - Between 30% and 50% cases |
Polyhydramnios | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ASCC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Arthrogryposis multiplex congenita
- Peripheral axonal neuropathy
- Pulmonary hypoplasia
- Premature birth
- Severe muscular hypotonia
- Respiratory distress
- Patent foramen ovale
- Spinal muscular atrophy
And 26 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASCC1 gene
Here you will find a list of rare diseases related to the ASCC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADENOCARCINOMA OF THE ESOPHAGUS
Alternate names
ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia
Description
Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.
Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS
- Dysphagia
- Obesity
- Gastroesophageal reflux
- Feeding difficulties in infancy
- Cough
More info about ADENOCARCINOMA OF THE ESOPHAGUS
SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2
Most common symptoms of SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2
- Global developmental delay
- Generalized hypotonia
- Muscle weakness
- Flexion contracture
- Peripheral neuropathy
More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2
SOURCES: OMIM
PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES
Alternate names
PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES Is also known as smabf
More info about PRENATAL-ONSET SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES
SOURCES: ORPHANET
Search interest in ASCC1
Potential gene panels for ASCC1 gene
ASCC1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASCC1 gene.
More info about this panelSPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) Panel
By Laboratorio de Genetica Clinica SL SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) that also includes the following genes: TRIP4 ASCC1
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
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
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