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Autosomal systemic lupus erythematosus type 16(SLEB16)

MedGen UID:
482372
Concept ID:
C3280742
Disease or Syndrome
Synonym: Systemic lupus erythematosus 16
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): DNASE1L3 (3p14.3)
 
Monarch Initiative: MONDO:0013743
OMIM®: 614420
Orphanet: ORPHA300345

Definition

People with SLE have episodes in which the condition gets worse (exacerbations) and other times when it gets better (remissions). Overall, SLE gradually gets worse over time, and damage to the major organs of the body can be life-threatening.

About a third of people with SLE develop kidney disease (nephritis). Heart problems may also occur in SLE, including inflammation of the sac-like membrane around the heart (pericarditis) and abnormalities of the heart valves, which control blood flow in the heart. Heart disease caused by fatty buildup in the blood vessels (atherosclerosis), which is very common in the general population, is even more common in people with SLE. The inflammation characteristic of SLE can also damage the nervous system, and may result in abnormal sensation and weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty processing, learning, and remembering information (cognitive impairment). Anxiety and depression are also common in SLE.

SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness. Skin problems are common in SLE. A characteristic feature is a flat red rash across the cheeks and bridge of the nose, called a "butterfly rash" because of its shape. The rash, which generally does not hurt or itch, often appears or becomes more pronounced when exposed to sunlight. Other skin problems that may occur in SLE include calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) in the skin, and tiny red spots called petechiae. Petechiae are caused by a shortage of cells involved in clotting (platelets), which leads to bleeding under the skin. Affected individuals may also have hair loss (alopecia) and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, or, less commonly, the genitals.

Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs. [from MedlinePlus Genetics]

Clinical features

From HPO
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Lupus nephritis
MedGen UID:
6147
Concept ID:
C0024143
Disease or Syndrome
Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.
Antinuclear antibody positivity
MedGen UID:
101792
Concept ID:
C0151480
Laboratory or Test Result
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Decreased circulating complement C3 concentration
MedGen UID:
332469
Concept ID:
C1837512
Finding
Concentration of the complement component C3 in the blood circulation below the lower limit of normal.
Decreased circulating complement C4 concentration
MedGen UID:
893114
Concept ID:
C4073169
Finding
Concentration of the complement component C4 in the blood circulation below the lower limit of normal.
Perinuclear antineutrophil antibody positivity
MedGen UID:
1696202
Concept ID:
C5139209
Laboratory or Test Result
The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
Anti-dsDNA antibody positivity
MedGen UID:
1782602
Concept ID:
C5539409
Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal systemic lupus erythematosus type 16
Follow this link to review classifications for Autosomal systemic lupus erythematosus type 16 in Orphanet.

Recent clinical studies

Etiology

Pruthi R, McClure M, Casula A, Roderick PJ, Fogarty D, Harber M, Ravanan R
Kidney Int 2016 Apr;89(4):918-26. Epub 2016 Jan 21 doi: 10.1016/j.kint.2015.11.022. PMID: 26924061
Locatelli AJ, Marcos GM, Gómez MG, Alvarez SA, DeBenedetti LC
Adv Perit Dial 1999;15:193-6. PMID: 10682100

Diagnosis

Pruthi R, McClure M, Casula A, Roderick PJ, Fogarty D, Harber M, Ravanan R
Kidney Int 2016 Apr;89(4):918-26. Epub 2016 Jan 21 doi: 10.1016/j.kint.2015.11.022. PMID: 26924061
Locatelli AJ, Marcos GM, Gómez MG, Alvarez SA, DeBenedetti LC
Adv Perit Dial 1999;15:193-6. PMID: 10682100

Therapy

Locatelli AJ, Marcos GM, Gómez MG, Alvarez SA, DeBenedetti LC
Adv Perit Dial 1999;15:193-6. PMID: 10682100

Prognosis

Locatelli AJ, Marcos GM, Gómez MG, Alvarez SA, DeBenedetti LC
Adv Perit Dial 1999;15:193-6. PMID: 10682100

Clinical prediction guides

Locatelli AJ, Marcos GM, Gómez MG, Alvarez SA, DeBenedetti LC
Adv Perit Dial 1999;15:193-6. PMID: 10682100

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