ORPHA:210136
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adult
- Status
- active
A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome | |
| fr | Syndrome de fibrose pulmonaire-hyperplasie hépatique-hypoplasie de la moelle osseuse | |
| de | Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie | |
| es | Síndrome de fibrosis pulmonar-hiperplasia hepática-hipoplasia de médula ósea | |
| it | Fibrosi polmonare - iperplasia epatica - ipoplasia del midollo osseo | |
| nl | Longfibrose - leverhyperplasie - beenmerghypoplasie-syndroom | |
| pt | Fibrose pulmonar - hiperplasia hepática - hipoplasia de medula óssea | |
| pl | Włóknienie płuc - hiperplazja wątroby - hipoplazja szpiku kostnego | |
| cs | Syndrom zahrnující fibrózu plic, hyperplázii jater a hypoplázii kostní dřeně | |
| uk | Синдром легеневого фіброзу-гіперплазії печінки-гіпоплазії кісткового мозку | |
| zh | 肺纤维化-肝增生-骨髓发育不全综合征 | |
| tr | Pulmoner fibroz-hepatik hiperplazi-kemik iliği hipoplazi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J84.1 | NTBT | attributed | validated |
| ICD-11 | DB99.Y | NTBT | index | validated |
| MONDO | 0016214 | E | validated | |
| UMLS | C4510085 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:264740Primary interstitial lung disease specific to adulthood
rare respiratory diseases; rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19401489[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19401489[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
16 annotations · validated 2017-04-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0011954 | Nodular regenerative hyperplasia of liver | |
| HP:0001409 | Portal hypertension | |
| HP:0002206 | Pulmonary fibrosis | |
| Frequent (79-30%) | ||
| HP:0006707 | Abnormality of the hepatic vasculature | |
| HP:0012735 | Cough | |
| HP:0030830 | Crackles | |
| HP:0002094 | Dyspnea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0030829 | Abnormal breath sound | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0001685 | Myocardial fibrosis | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 19401489[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/210136
- This record as JSON: /data/d/210136.json