Autosomal recessive systemic lupus erythematosus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SLEB16 Familial systemic lupus erythematosus Autosomal recessive SLE Familial SLE |
| Number of Symptoms | 5 |
| OrphanetNr: | 300345 |
| OMIM Id: |
614420
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| ICD-10: |
M32.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic systemic or rheumatologic disease
-Rare genetic disease Systemic autoimmune disease -Rare systemic or rheumatologic disease |
Symptom Information:
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(HPO:0000123) | Nephritis | 18 / 7739 | ||||
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(HPO:0002725) | Systemic lupus erythematosus | 14 / 7739 | ||||
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(OMIM) | Anti-neutrophil cytoplasmic antibodies | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Systemic lupus erythematosus, childhood onset | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Al-Mayouf et al. (2011) studied 7 Arab families in which at least 2 sibs had systemic lupus erythematosus and healthy consanguineous parents. All affected individuals had pediatric onset of SLE, and there was high frequency of anti-neutrophil cytoplasmic ... |
| Molecular genetics OMIM |
In 6 consanguineous Arab families with SLE mapping to chromosome 3p14.3, Al-Mayouf et al. (2011) analyzed the candidate gene DNASE1L3 (602244) and identified a 1-bp deletion (602244.0001) that segregated with disease in all 6 families. Haplotype analysis confirmed ... |