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.
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
Search interest in HIKESHI
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 Germany.
C11orf73 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HIKESHI gene.
More info about this panel United States.
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