Neonatal lupus erythematosus
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare systemic autoimmune disease characterized by cutaneous lesions, hepatic dysfunction, hematological abnormalities, and/or cardiac arrhythmia, and caused by transplacental passage of maternal SS-A and SS-B autoantibodies. The most typical cutaneous manifestation is a macular annular erythema affecting the head, but also trunk and extremities. Other reversible features include anemia, neutropenia, thrombocytopenia, and elevation of liver parameters with hepatomegaly. The most severe presentation of the disease is irreversible congenital total atrioventricular block.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal lupus erythematosus | |
| fr | Lupus érythémateux néonatal | |
| de | Lupus erythematosus, neonataler | |
| es | Lupus eritematoso neonatal | |
| it | Lupus eritematoso neonatale | |
| nl | Neonatale lupus erythematosus | |
| pt | Lupus eritomatoso neonatal | |
| pl | Toczeń rumieniowaty noworodków | |
| cs | Neonatální lupus erythematodes | |
| uk | Неонатальний червоний вовчак | |
| zh | 新生儿红斑狼疮 | |
| tr | Yenidoğan lupus eritematozusu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M32.8 | NTBT | attributed | validated |
| ICD-11 | KA07.0 | E | specific | validated |
| MONDO | 0018360 | E | validated | |
| MeSH | C536397 | E | validated | |
| UMLS | C0409979 | E | validated | |
| MedDRA | 10057887 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:398091Secondary neonatal autoimmune disease
rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | United States | Value and class | Validated | 9061661[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 5 / 100 000 | United States | Value and class | Validated | 30252317[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
36 annotations · validated 2019-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| Frequent (79-30%) | ||
| HP:0001871 | Abnormality of blood and blood-forming tissues | |
| HP:0001392 | Abnormality of the liver | |
| HP:0000951 | Abnormality of the skin | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001903 | Anemia | |
| HP:0011675 | Arrhythmia | |
| HP:0001678 | Atrioventricular block | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0025474 | Erythematous plaque | |
| HP:0012722 | Heart block | |
| HP:0002240 | Hepatomegaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000962 | Hyperkeratosis | |
| HP:0040186 | Maculopapular exanthema | |
| HP:0025300 | Malar rash | |
| HP:0001036 | Parakeratosis | |
| HP:0000988 | Skin rash | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0011702 | Abnormal electrophysiology of sinoatrial node origin | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001915 | Aplastic anemia | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0001878 | Hemolytic anemia | |
| HP:0001399 | Hepatic failure | |
| HP:0000256 | Macrocephaly | |
| HP:0001876 | Pancytopenia | |
| HP:0001657 | Prolonged QT interval | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001744 | Splenomegaly | |
| Excluded (0%) | ||
| HP:0001396 | Cholestasis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29116459[PMID]_25240481[PMID]_3058253[PMID]_31112454[PMID]_20696019[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/398124
- This record as JSON: /data/d/398124.json