INPP5K gene related symptoms and diseases

All the information presented here about the INPP5K gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to INPP5K gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Cataract Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Congenital muscular dystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with INPP5K gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Rigidity
  • Elevated serum creatine phosphokinase
  • Hyporeflexia
  • Skeletal muscle atrophy
  • Flexion contracture
  • Spasticity
  • Progressive muscle weakness
  • Muscle weakness

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

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Rare diseases associated to INPP5K gene

Here you will find a list of rare diseases related to the INPP5K. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MARINESCO-SJÖGREN SYNDROME


Description

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Most common symptoms of MARINESCO-SJÖGREN SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MARINESCO-SJÖGREN SYNDROME

SOURCES: ORPHANET OMIM

MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID


Description

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Most common symptoms of MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

SOURCES: OMIM


Potential gene panels for INPP5K gene

INPP5K Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the INPP5K gene.

More info about this panel


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