DNAJC12 gene related symptoms and diseases

All the information presented here about the DNAJC12 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNAJC12 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Muscular hypotonia of the trunk Very Common - Between 80% and 100% cases
Oculogyric crisis Very Common - Between 80% and 100% cases
Hypomimic face Very Common - Between 80% and 100% cases
Limb hypertonia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNAJC12 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Broad-based gait
  • Bradykinesia
  • Parkinsonism
  • Attention deficit hyperactivity disorder
  • Obesity
  • Seizures
  • Intellectual disability, mild
  • Dystonia

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

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Rare diseases associated to DNAJC12 gene

Here you will find a list of rare diseases related to the DNAJC12. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY


Alternate names

HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY Is also known as non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia

Description

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

Most common symptoms of HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


More info about HYPERPHENYLALANINEMIA DUE TO DNAJC12 DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for DNAJC12 gene

DNAJC12 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the DNAJC12 gene.

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Hyperphenylalaninemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperphenylalaninemia Sequencing Panel with CNV Detection that also includes the following genes: DNAJC12 GCH1 PAH PCBD1 PTS QDPR

More info about this panel

Hyperphenylalaninemia via DNAJC12 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the DNAJC12 gene.

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK

More info about this panel

Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12 gene) Panel

Netherlands.

By VU University Medical Center Metabolic Unit, PX 1X 009

This panel specifically test the DNAJC12 gene.

More info about this panel


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