1. Mendelian
  2. Genes
  3. PRDX1

PRDX1 gene related symptoms and diseases

All the information presented here about the PRDX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PRDX1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Psychosis Very Common - Between 80% and 100% cases
Apathy Very Common - Between 80% and 100% cases
Ectopia lentis Very Common - Between 80% and 100% cases
Hemiplegia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PRDX1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Slurred speech
  • Atherosclerosis
  • Abnormality of retinal pigmentation
  • Anorexia
  • Recurrent urinary tract infections
  • Broad-based gait
  • Pulmonary arterial hypertension
  • Pancytopenia

And 91 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRDX1 gene

Here you will find a list of rare diseases related to the PRDX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Alternate names

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase, methylmalonic aciduria and homocystinuria, vitamin b12-responsive, methylmalonic acidemia and homocystinuria, cblc t

Description

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

Most common symptoms of METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

SOURCES: ORPHANET OMIM


Potential gene panels for PRDX1 gene

PRDX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRDX1 gene.

More info about this panel
United States.

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