1. Mendelian
  2. Rare Disease Genes
  3. CAPN10-DT

CAPN10-DT gene related symptoms and diseases

All the information presented here about the CAPN10-DT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to CAPN10-DT gene

Symptoms // Phenotype % Cases
Failure to thrive Very Common - Between 80% and 100% cases
Enuresis Very Common - Between 80% and 100% cases
Cutis marmorata Very Common - Between 80% and 100% cases
Pathologic fracture Very Common - Between 80% and 100% cases
Optic neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CAPN10-DT gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Heart block
  • Gangrene
  • Acrocyanosis
  • Raynaud phenomenon
  • Peripheral arterial stenosis
  • Dysuria
  • Calcinosis
  • Pyelonephritis

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to CAPN10-DT gene

Here you will find a list of rare diseases related to the CAPN10-DT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY HYPEROXALURIA TYPE 1

Alternate names

PRIMARY HYPEROXALURIA TYPE 1 Is also known as glycolic aciduria, peroxisomal alanine:glyoxylate aminotransferase deficiency, peroxisomal alanine-glyoxylate aminotransferase deficiency, hepatic agt deficiency, alanine-glyoxylate aminotransferase deficiency, serine:pyruvate aminotransferase deficiency, oxalo

Description

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

Most common symptoms of PRIMARY HYPEROXALURIA TYPE 1

  • Failure to thrive
  • Pain
  • Anemia
  • Peripheral neuropathy
  • Fever


More info about PRIMARY HYPEROXALURIA TYPE 1

SOURCES: MESH OMIM ORPHANET



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