RPL35 gene related symptoms and diseases

All the information presented here about the RPL35 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RPL35 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Abnormality of the urinary system Very Common - Between 80% and 100% cases
Tetralogy of Fallot Very Common - Between 80% and 100% cases
Mitral valve prolapse Very Common - Between 80% and 100% cases
Ventricular hypertrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RPL35 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Thick lower lip vermilion
  • Depressed nasal ridge
  • Mitral regurgitation
  • Abnormality of the genital system
  • Short thumb
  • Melanoma
  • Abnormality of the hand
  • Bifid uvula

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RPL35 gene

Here you will find a list of rare diseases related to the RPL35. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


BLACKFAN-DIAMOND ANEMIA

Alternate names

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type, congenital pure red cell aplasia, aase-smith syndrome ii, congenital prca, aase-smith ii syndrome, aase syndrome

Description

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

Most common symptoms of BLACKFAN-DIAMOND ANEMIA

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


More info about BLACKFAN-DIAMOND ANEMIA

SOURCES: ORPHANET OMIM



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