SLEB16
MCID: SYS061
MIFTS: 35
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Systemic Lupus Erythematosus 16 (SLEB16)
Categories:
Bone diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Systemic Lupus Erythematosus 16:
Characteristics:Orphanet epidemiological data:58
autosomal systemic lupus erythematosus
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Skin diseases Nephrological diseases Immune diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Systemic lupus erythematosus 16: A rare autosomal recessive form of systemic lupus erythematosus with childhood onset, characterized by high frequency of anti-neutrophil cytoplasmic antibodies and lupus nephritis. Systemic lupus erythematosus is a chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
MalaCards based summary : Systemic Lupus Erythematosus 16, also known as sleb16, is related to complement deficiency and aicardi-goutieres syndrome. An important gene associated with Systemic Lupus Erythematosus 16 is DNASE1L3 (Deoxyribonuclease 1 Like 3), and among its related pathways/superpathways are Immune response Lectin induced complement pathway and Creation of C4 and C2 activators. Affiliated tissues include neutrophil, bone marrow and heart, and related phenotypes are systemic lupus erythematosus and nephritis
More information from OMIM:
614420
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Human phenotypes related to Systemic Lupus Erythematosus 16:31
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MalaCards organs/tissues related to Systemic Lupus Erythematosus 16:40
Neutrophil,
Bone Marrow,
Heart,
Ovary
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Articles related to Systemic Lupus Erythematosus 16:(show all 12)
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ClinVar genetic disease variations for Systemic Lupus Erythematosus 16:6
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Search
GEO
for disease gene expression data for Systemic Lupus Erythematosus 16.
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Pathways related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:
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Cellular components related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:
Biological processes related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Systemic Lupus Erythematosus 16 according to GeneCards Suite gene sharing:
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