PYROXD1 gene related symptoms and diseases

All the information presented here about the PYROXD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PYROXD1 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Nasal speech Very Common - Between 80% and 100% cases
Frequent falls Very Common - Between 80% and 100% cases
Dental crowding Very Common - Between 80% and 100% cases
Tall stature Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PYROXD1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Progressive muscle weakness
  • Scapular winging
  • Poor head control
  • Easy fatigability
  • Gowers sign
  • Peripheral axonal neuropathy
  • Generalized amyotrophy
  • Difficulty climbing stairs

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PYROXD1 gene

Here you will find a list of rare diseases related to the PYROXD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MYOPATHY, MYOFIBRILLAR, 8; MFM8


Description

Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs. Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization (summary by O'Grady et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Most common symptoms of MYOPATHY, MYOFIBRILLAR, 8; MFM8

  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis


More info about MYOPATHY, MYOFIBRILLAR, 8; MFM8

SOURCES: OMIM


Potential gene panels for PYROXD1 gene

Myofibrillar myopathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders NGS panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Comprehensive panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Deletion / Duplication panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel


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