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MCID: FRS004
MIFTS: 32
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Free Sialic Acid Storage Disorders
Categories:
Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Free Sialic Acid Storage Disorders:
Name: Free Sialic Acid Storage Disorders
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Characteristics:Orphanet epidemiological data:58
free sialic acid storage disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; GeneReviews:24
Penetrance Free sialic acid storage disorders seem to be fully penetrant. however, mochel et al [2009] reported a case of two individuals with homozygous p.lys136glu pathogenic variants, no detectable urinary sialic acid abnormality, and elevated csf free sialic acid suggesting that penetrance based on urinary studies alone may be incomplete.
Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Anatomical: Neuronal diseases Liver diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
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Genetics Home Reference :
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Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms that may vary widely in severity. This disorder is generally classified into one of three forms: infantile free sialic acid storage disease, Salla disease, and intermediate severe Salla disease.
Infantile free sialic acid storage disease (ISSD) is the most severe form of this disorder. Babies with this condition have severe developmental delay, weak muscle tone (hypotonia), and failure to gain weight and grow at the expected rate (failure to thrive). They may have unusual facial features that are often described as "coarse," seizures, bone malformations, an enlarged liver and spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen may be swollen due to the enlarged organs and an abnormal buildup of fluid in the abdominal cavity (ascites). Affected infants may have a condition called hydrops fetalis in which excess fluid accumulates in the body before birth. Children with this severe form of the condition usually live only into early childhood.
Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems. Signs and symptoms of Salla disease include intellectual disability and developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs (athetosis). Individuals with Salla disease usually survive into adulthood.
People with intermediate severe Salla disease have signs and symptoms that fall between those of ISSD and Salla disease in severity.
MalaCards based summary : Free Sialic Acid Storage Disorders, also known as free sialic acid storage disease, is related to salla disease and infantile sialic acid storage disease, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Free Sialic Acid Storage Disorders is SLC17A5 (Solute Carrier Family 17 Member 5). The drug Azacitidine has been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related phenotypes are intellectual disability and spasticity NIH Rare Diseases : 52 Free sialic acid storage diseases are inherited conditions that lead to progressive neurological damage. There are three forms of free sialic acid storage diseases; an infantile form, an intermediate severe form and Salla disease. The infantile form is the most severe, with symptoms appearing before birth or soon after. Salla disease is the least severe with symptoms that start in the first year of life and progress slowly through adulthood. The intermediate severe form is less severe than the infantile form, but more severe than Salla disease. General symptoms of free sialic acid storage diseases include developmental delay , low muscle tone, abnormal movements, and seizures . They are progressive, and symptoms get worse over time. All forms of free sialic acid storage disease are caused by genetic changes (mutations ) in the SLC17A5 gene and are inherited in an autosomal recessive manner. Free sialic acid storage disease can be diagnosed by laboratory tests looking for sialic acid in the urine, imaging studies of the brain, and genetic testing . Treatment is based on the symptoms and maintaining quality of life. People with the least severe form of this disease (Salla disease) can live into adulthood.
GeneReviews:
NBK1470
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Human phenotypes related to Free Sialic Acid Storage Disorders:58 31 (show all 30)
UMLS symptoms related to Free Sialic Acid Storage Disorders:seizures, ataxia, athetosis, muscle spasticity |
Drugs for Free Sialic Acid Storage Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Free Sialic Acid Storage Disorders:40
Bone,
Liver,
Brain,
Spleen,
Heart,
Testes,
Skin
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Articles related to Free Sialic Acid Storage Disorders:(show top 50) (show all 55)
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Genes related to Free Sialic Acid Storage Disorders (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Free Sialic Acid Storage Disorders.
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