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Autosomal recessive systemic lupus erythematosus
1 OMIM reference -
2 associated genes
116 connected diseases
No signs/symptoms info
Disease Type of connection
Autoimmune lymphoproliferative syndrome
Common variable immunodeficiency
Hypocomplementemic urticarial vasculitis
Chronic granulomatous disease
Pediatric systemic lupus erythematosus
Precursor B-cell acute lymphoblastic leukemia
Giant cell glioblastoma
Gliosarcoma
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Junctional epidermolysis bullosa - pyloric atresia
Hemimegalencephaly
Autosomal dominant hyper-IgE syndrome
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Bartsocas-Papas syndrome
Cone rod dystrophy
Pyruvate dehydrogenase phosphatase deficiency
Childhood absence epilepsy
Chuvash erythrocytosis
Juvenile myoclonic epilepsy
Von Hippel-Lindau disease
Giant cell arteritis
Granulomatosis with polyangiitis
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Intermittent hydrarthrosis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
TRAPS syndrome
Adrenocortical carcinoma
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant methemoglobinemia
B-cell chronic lymphocytic leukemia
Blackfan-Diamond anemia
Chronic myeloid leukemia
Classical progressive supranuclear palsy
Distal hereditary motor neuropathy type 2
Essential thrombocythemia
Familial pancreatic carcinoma
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hereditary chronic pancreatitis
Li-Fraumeni syndrome
Papilloma of choroid plexus
Parkinsonian-pyramidal syndrome
Precursor T-cell acute lymphoblastic leukemia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Severe X-linked mitochondrial encephalomyopathy
X-linked Charcot-Marie-Tooth disease type 4
Young adult-onset Parkinsonism
Adult-onset distal myopathy due to VCP mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 15 / 16
Spinocerebellar ataxia type 29
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Childhood-onset nemaline myopathy
Cleidocranial dysplasia
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Epidermolysis bullosa simplex with pyloric atresia
Generalized junctional epidermolysis bullosa, non-Herlitz type
Intermediate nemaline myopathy
Leukocyte adhesion deficiency type I
Localized junctional epidermolysis bullosa, non-Herlitz type
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Severe congenital nemaline myopathy
Typical nemaline myopathy
Adult-onset autosomal dominant leukodystrophy
Baraitser-Winter syndrome
CLOVE syndrome
Cowden syndrome
Developmental malformations - deafness - dystonia
Distal 22q11.2 microdeletion syndrome
Early infantile epileptic encephalopathy
Familial thoracic aortic aneurysm and aortic dissection
Growth delay due to insulin-like growth factor I resistance
Hereditary nonpolyposis colon cancer
LEOPARD syndrome
Macrodactyly of fingers, unilateral
Malignant migrating partial seizures of infancy
Megalencephaly-capillary malformation-polymicrogyria syndrome
Moyamoya disease
Noonan syndrome
Partial acquired lipodystrophy
Pilocytic astrocytoma
Presynaptic congenital myasthenic syndromes
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to LCK deficiency
Synonym(s):
- Autosomal recessive SLE
- Familial SLE
- Familial systemic lupus erythematosus
Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DNASE1L3 Q13609602244
PRKCD Q05655176977
No signs/symptoms info available.