COL13A1 gene related symptoms and diseases

All the information presented here about the COL13A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL13A1 gene

Symptoms // Phenotype % Cases
Ptosis Very Common - Between 80% and 100% cases
High palate Very Common - Between 80% and 100% cases
Facial palsy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Pectus carinatum Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with COL13A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Joint laxity
  • Cyanosis
  • Gastroesophageal reflux
  • Diplopia
  • Pes cavus
  • Spinal rigidity
  • EMG: myopathic abnormalities
  • Motor delay

And 99 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to COL13A1 gene

Here you will find a list of rare diseases related to the COL13A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Description

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Most common symptoms of PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET

MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19


Description

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Most common symptoms of MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

SOURCES: OMIM

POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Most common symptoms of POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

  • Scoliosis
  • Muscle weakness
  • Ptosis
  • High palate
  • Skeletal muscle atrophy


More info about POSTSYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

SOURCES: ORPHANET


Potential gene panels for COL13A1 gene

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Congenital Myasthenic Syndrome Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Sequencing Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ

More info about this panel

Congenital Myasthenic Syndrome Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Congenital Myasthenic Syndrome Deletion/Duplication Panel that also includes the following genes: SCN4A SNAP25 SYT2 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

COL13A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL13A1 gene.

More info about this panel

MYASTHENIC SYNDROME, CONGENITAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MYASTHENIC SYNDROME, CONGENITAL NGS PANEL that also includes the following genes: SCN4A SLC18A3 SYT2 SLC5A7 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1

More info about this panel


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