|
SLS
MCID: SJG002
MIFTS: 57
|
Sjogren-Larsson Syndrome (SLS)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Sjogren-Larsson Syndrome:
Characteristics:Orphanet epidemiological data:58
sjogren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset of neurologic symptoms often by 30 months prevalent in sweden HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases Skin diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism External Ids:
|
|
Genetics Home Reference :
25
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age.
Affected infants tend to be born prematurely. At birth the skin is red (erythema), but later in infancy the skin becomes dry, rough, and scaly with a brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. These skin abnormalities are generally dispersed over the whole body, most severely affecting the nape of the neck, the torso, and the extremities. The skin of the face is usually not affected.
People with this condition may also have neurological signs and symptoms. Most affected individuals have leukoencephalopathy, which is a change in a type of brain tissue called white matter. White matter consists of nerve fibers covered by a substance (myelin) that insulates and protects the nerves. The leukoencephalopathy is thought to contribute to many of the neurological signs and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. People with Sjögren-Larsson syndrome have speech difficulties (dysarthria) and delayed speech. Usually they are able to produce only short sentences with poorly formed words. Rarely, people with this condition have normal intelligence. In addition, approximately 40 percent of people with Sjögren-Larsson syndrome have seizures.
Children with this condition often experience delayed development of motor skills (such as crawling and walking) due to abnormal muscle stiffness (spasticity) that is typically in their legs and, less commonly, also in their arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair assistance and many others need some form of support to walk.
Affected individuals have tiny crystals in the light-sensitive tissue at the back of the eye (retina) that can be seen during an eye exam. Based on their appearance, these retinal crystals are often called glistening white dots. These white dots are usually apparent by early childhood, and it is unclear if they affect normal vision. People with Sjögren-Larsson syndrome may also have nearsightedness (myopia) or an increased sensitivity to light (photophobia).
MalaCards based summary : Sjogren-Larsson Syndrome, also known as sjögren-larsson syndrome, is related to quadriplegia and spastic paraparesis, and has symptoms including seizures, photophobia and muscle spasticity. An important gene associated with Sjogren-Larsson Syndrome is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Fatty acid degradation and Metabolism. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, retina and eye, and related phenotypes are intellectual disability and abnormal pyramidal sign Disease Ontology : 12 An autosomal recessive disease that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. NIH Rare Diseases : 52 Sjogren-Larsson syndrome (SLS) is an inborn error of lipid metabolism , characterized by congenital ichthyosis (dry, scaly skin), intellectual disability , and spasticity (stiffness and involuntary muscle spasms). The syndrome is caused by mutations in the gene called FADH (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion . Treatment is symptomatic. OMIM : 56 Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). (270200) KEGG : 36 Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis. UniProtKB/Swiss-Prot : 73 Sjoegren-Larsson syndrome: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. Wikipedia : 74 Sjogren-Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth. Sjogren-Larsson... more... |
Human phenotypes related to Sjogren-Larsson Syndrome:58 31 (show all 34)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:270200UMLS symptoms related to Sjogren-Larsson Syndrome:seizures, photophobia, muscle spasticity |
Drugs for Sjogren-Larsson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: sjogren-larsson syndrome |
MalaCards organs/tissues related to Sjogren-Larsson Syndrome:40
Skin,
Retina,
Eye,
Brain,
Lung,
Bone,
Heart
|
Articles related to Sjogren-Larsson Syndrome:(show top 50) (show all 367)
|
Genes related to Sjogren-Larsson Syndrome (1 elite genes):(show all 14) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Sjogren-Larsson Syndrome:6 (show top 50) (show all 119)
UniProtKB/Swiss-Prot genetic disease variations for Sjogren-Larsson Syndrome:73 (show all 26)
|
|
Search
GEO
for disease gene expression data for Sjogren-Larsson Syndrome.
|
Pathways related to Sjogren-Larsson Syndrome according to KEGG:36
Pathways related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:(show all 15)
|
Cellular components related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:(show all 13)
Molecular functions related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:
|
|