SHPK gene related symptoms and diseases
All the information presented here about the SHPK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SHPK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Diastasis recti | Very Common - Between 80% and 100% cases |
| Large fontanelles | Very Common - Between 80% and 100% cases |
| Chronic diarrhea | Very Common - Between 80% and 100% cases |
| Arnold-Chiari malformation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SHPK gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Adducted thumb
- Portal hypertension
- Hyperglycemia
- Steatorrhea
- Shallow orbits
- Severe postnatal growth retardation
- Breech presentation
- Hypotelorism
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SHPK gene
Here you will find a list of rare diseases related to the SHPK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED SEDOHEPTULOKINASE DEFICIENCY
Alternate names
ISOLATED SEDOHEPTULOKINASE DEFICIENCY Is also known as isolated shpk deficiency
Description
SHPK deficiency is an autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. Additional phenotypic consequences of this deficiency are unclear (summary by Wamelink et al., 2015).
Most common symptoms of ISOLATED SEDOHEPTULOKINASE DEFICIENCY
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Growth delay
More info about ISOLATED SEDOHEPTULOKINASE DEFICIENCY
Search interest in SHPK
Potential gene panels for SHPK gene
Sedoheptulokinase deficiency (SHPK) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SHPK gene.
More info about this panel Netherlands.
SHPK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SHPK gene.
More info about this panel United States.
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