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  2. Rare Disease Genes
  3. DNAJC9-AS1

DNAJC9-AS1 gene related symptoms and diseases

All the information presented here about the DNAJC9-AS1 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 DNAJC9-AS1 gene

Symptoms // Phenotype % Cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Feeding difficulties in infancy Very Common - Between 80% and 100% cases
Hypokinesia Very Common - Between 80% and 100% cases
Redundant skin Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNAJC9-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Metabolic acidosis
  • Lactic acidosis
  • Lethargy
  • Small for gestational age
  • Neonatal hypotonia
  • Low-set ears
  • Elevated hepatic transaminase
  • Acidosis

And 6 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DNAJC9-AS1 gene

Here you will find a list of rare diseases related to the DNAJC9-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Alternate names

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2, corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Description

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

SOURCES: OMIM ORPHANET MESH



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