HIKESHI gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HIKESHI gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Congestive heart failure Very Common - Between 80% and 100% cases
Clonus Very Common - Between 80% and 100% cases
Leukodystrophy Very Common - Between 80% and 100% cases
Left ventricular hypertrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Ventricular hypertrophy
  • Delayed myelination
  • Abnormality of the cerebral white matter
  • Muscular hypotonia of the trunk
  • Absent speech
  • Hypertonia
  • Generalized hypotonia
  • Optic atrophy

And 9 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HIKESHI gene

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


C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Alternate names

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy, hypomyelinating leukodystrophy due to hikeshi deficiency

Description

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Most common symptoms of C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

SOURCES: ORPHANET OMIM


Potential gene panels for HIKESHI gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

C11orf73 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HIKESHI gene.

More info about this panel


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