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

SOURCES: ORPHANET OMIM MESH



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