KY gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to KY gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Delayed gross motor development Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KY gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Babinski sign
  • Kyphoscoliosis
  • Muscle cramps
  • Lower limb spasticity
  • Knee flexion contracture
  • Lower limb hyperreflexia
  • Toe walking
  • Pain

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

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Rare diseases associated to KY gene

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


KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME


Description

Myofibrillar myopathy-7 is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures (summary by Straussberg et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (OMIM ).

Most common symptoms of KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

  • Intellectual disability
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Talipes equinovarus


More info about KYPHOSIS-LATERAL TONGUE ATROPHY-MYOFIBRILLAR MYOPATHY SYNDROME

SOURCES: OMIM ORPHANET

KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME


Alternate names

KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Most common symptoms of KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

SOURCES: ORPHANET


Potential gene panels for KY 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

KY Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KY gene.

More info about this panel


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