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  2. Rare Disease Genes
  3. PET117

PET117 gene related symptoms and diseases

All the information presented here about the PET117 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to PET117 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Aminoaciduria Very Common - Between 80% and 100% cases
Hypercalciuria Very Common - Between 80% and 100% cases
Poor suck Very Common - Between 80% and 100% cases
Poor head control Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PET117 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hyperammonemia
  • Tachypnea
  • Leukoencephalopathy
  • Respiratory insufficiency due to muscle weakness
  • Severe muscular hypotonia
  • Exercise intolerance
  • Congenital hip dislocation
  • Polydipsia

And 88 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PET117 gene

Here you will find a list of rare diseases related to the PET117. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Alternate names

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency, cox deficiency, isolated cox deficiency, cytochrome c oxidase deficiency

Description

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

Most common symptoms of ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

SOURCES: OMIM ORPHANET



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