Idiopathic pulmonary hemosiderosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic pulmonary hemosiderosis | |
| fr | Hémosidérose pulmonaire idiopathique | |
| de | Lungen-Hämosiderose, idiopathische | |
| es | Hemosiderosis pulmonar idiopática | |
| it | Emosiderosi polmonare idiopatica | |
| nl | Idiopathische pulmonale hemosiderose | |
| pt | Hemossiderose pulmonar, idiopática | |
| pl | Idiopatyczna hemosyderoza płuc | |
| cs | Idiopatická plicní hemosideróza | |
| uk | Ідіопатичний гемосидероз легень | |
| zh | 特发性肺含铁血黄素沉积 | |
| tr | İdiyopatik pulmoner hemosideroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178550 | E | validated | |
| OMIM | 235500 | BTNT | validated | |
| ICD-10 | E83.1+ | NTBT | index | validated |
| ICD-10 | J99.8* | NTBT | index | validated |
| ICD-11 | CB04.30 | E | specific | validated |
| MeSH | C536281 | E | validated | |
| UMLS | C0020807 | E | validated | |
| GARD | 6763 | 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:264762Primary interstitial lung disease in childhood and adulthood
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.0425 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | 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
29 annotations · validated 2021-10-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001891 | Iron deficiency anemia | |
| Frequent (79-30%) | ||
| HP:0012735 | Cough | |
| HP:0012378 | Fatigue | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0002105 | Hemoptysis | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0000980 | Pallor | |
| HP:0002113 | Pulmonary infiltrates | |
| Occasional (29-5%) | ||
| HP:0012393 | Allergy | |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0001640 | Cardiomegaly | |
| HP:0030830 | Crackles | |
| HP:0025420 | Diffuse alveolar hemorrhage | |
| HP:0002094 | Dyspnea | |
| HP:0001508 | Failure to thrive | |
| HP:0001945 | Fever | |
| HP:0030148 | Heart murmur | |
| HP:0002240 | Hepatomegaly | |
| HP:0025392 | Nodular pattern on pulmonary HRCT | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002878 | Respiratory failure | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0025390 | Reticular pattern on pulmonary HRCT | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0003262 | Smooth muscle antibody positivity | |
| Very rare (<4-1%) | ||
| HP:0100327 | Cow milk allergy | |
| HP:0000099 | Glomerulonephritis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30278795[PMID] _33246295[PMID] _32644388[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99931
- This record as JSON: /data/d/99931.json