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.

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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

SOURCES: OMIM MESH ORPHANET

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


Potential gene panels for ASCC1 gene

ASCC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASCC1 gene.

More info about this panel

SPINAL MUSCULAR ATROPHY WITH FRACTURES, PRENATAL (SMABF) Panel

Spain.

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 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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