RPL36A-HNRNPH2 gene related symptoms and diseases
All the information presented here about the RPL36A-HNRNPH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RPL36A-HNRNPH2 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Achalasia | Very Common - Between 80% and 100% cases |
Tubular atrophy | Very Common - Between 80% and 100% cases |
Abnormality of the gastrointestinal tract | Very Common - Between 80% and 100% cases |
Oligospermia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RPL36A-HNRNPH2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Large earlobe
- Supraventricular tachycardia
- Heat intolerance
- Reduced ejection fraction
- Peripheral arterial stenosis
- Clubbing of fingers
- Angina pectoris
- Chronic obstructive pulmonary disease
And 216 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RPL36A-HNRNPH2 gene
Here you will find a list of rare diseases related to the RPL36A-HNRNPH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FABRY DISEASE
Alternate names
FABRY DISEASE Is also known as ceramide trihexosidase deficiency, hereditary dystopic lipidosis, fd, alpha-galactosidase a deficiency, diffuse angiokeratoma, gla deficiency, angiokeratoma corporis diffusum, anderson-fabry disease
Description
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Most common symptoms of FABRY DISEASE
- Seizures
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Pain
More info about FABRY DISEASE
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