Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome
Description
Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).
Genes related to Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome
- SCYL1
Clinical Features
Top most frequent phenotypes and symptoms related to Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome
- Intellectual disability
- Global developmental delay
- Ataxia
- Muscle weakness
- Spasticity
- Motor delay
- Peripheral neuropathy
- Hyperreflexia
- Hepatomegaly
- Fever
And another 31 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy, autosomal recessive spinocerebellar ataxia type 21, scar21.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Acute Infantile Liver Failure-cerebellar Ataxia-peripheral Sensory Motor Neuropathy Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Ataxia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
Ataxia and differential diagnoses Panel.
By CeGaT GmbH (Germany).
RPIA, SACS, ATXN1, ATXN10, ATXN2, ATXN7, SCN2A, SLC17A5, SLC1A3, SLC6A1, SLC9A1, SNAP25, BTD, SPG7, SPR, SPTBN2, STUB1, TBP, TWNK, ACO2 , (...)
View the complete list with 184 more genes
Specificity
1 %
Genes
100 % |
SCYL1.
By Fulgent Genetics Fulgent Genetics (United States).
SCYL1
Specificity
100 %
Genes
100 % |
You can get up to -4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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