ASTN2 gene related symptoms and diseases

All the information presented here about the ASTN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ASTN2 gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Congenital muscular dystrophy Very Common - Between 80% and 100% cases
Pelvic girdle muscle atrophy Very Common - Between 80% and 100% cases
Calf muscle pseudohypertrophy Very Common - Between 80% and 100% cases
Shoulder girdle muscle atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ASTN2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Proximal muscle weakness in lower limbs
  • Pelvic girdle muscle weakness
  • Neck flexor weakness
  • Exercise-induced myalgia
  • Shoulder girdle muscle weakness
  • Progressive proximal muscle weakness
  • Centrally nucleated skeletal muscle fibers
  • Calf muscle hypertrophy

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ASTN2 gene

Here you will find a list of rare diseases related to the ASTN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H


Alternate names

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy, lgmd2h, muscular dystrophy, hutterite type, limb-girdle muscular dystrophy due to trim32 deficiency, muscular dystrophy, limb-girdle, type 2h

Description

Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

Most common symptoms of AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

SOURCES: OMIM ORPHANET MESH


Potential gene panels for ASTN2 gene

Autism Spectrum Disorders 53-Gene Panel Panel

United States.

By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X

More info about this panel

ASTN2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASTN2 gene.

More info about this panel


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