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.
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
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
Search interest in INPP5K
Potential gene panels for INPP5K gene
INPP5K Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the INPP5K gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL25A1 POC1A ADNP CNGB3 COMT TPI1 CACNA1D