ORPHA:440427
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Synonyms: Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease · PAP, Reunion island type · Pulmonary alveolar proteinosis, Reunion island type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic interstitial lung disease characterized by accumulation of lipoproteins in the pulmonary alveoli leading to restrictive lung disease and respiratory failure. Patients present with dyspnea, tachypnea, cough, failure to thrive, and digital clubbing. Liver disease have been described in some cases including hepatomegaly, steatosis, fibrosis or cirrhosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease · PAP, Reunion island type · Pulmonary alveolar proteinosis, Reunion island type |
| fr | Protéinose alvéolaire pulmonaire sévère par déficit en MARS à début précoce | PAP de l'île de La Réunion · Protéinose alvéolaire pulmonaire de l'île de La Réunion · Protéinose alvéolaire pulmonaire héréditaire avec atteinte hépatique |
| de | Schwere früh-beginnende pulmonale Alveolarproteinose durch MARS-Mangel | Hereditäre pulmonale Alveolarproteinose mit Leberbeteiligung · Interstitielle Lungen- und Lebererkrankung · PAP, Insel Réunion-Typ · Pulmonale Alveolarproteinose vom Réunion Insel-Typ |
| es | Proteinosis alveolar pulmonar grave por deficiencia de MARS de inicio en el adulto | Enfermedad pulmonar y hepática intersticial · PAP tipo isla de Reunión · Proteinosis alveolar pulmonar hereditaria con afectación hepática · Proteinosis alveolar pulmonar tipo isla de Reunión |
| it | Proteinosi alveolare polmonare grave a esordio precoce da deficit di MARS | Malattia epatica e polmonare interstiziale · PAP, tipo isola de La Réunion · Proteinosi alveolare polmonare ereditaria con coinvolgimento epatico · Proteinosi alveolare polmonare, tipo isola de La Réunion |
| nl | Ernstige vroeg beginnende pulmonale alveolaire proteïnose door MARS-deficiëntie | Erfelijke pulmonale alveolaire proteïnose met hepatische betrokkenheid · Interstitiële long- en leverziekte · PAP, eiland Réunion-type · Pulmonale alveolaire proteïnose, eiland Réunion-type |
| pt | Proteinose alveolar pulmonar grave com início precoce por défice de MARS | |
| pl | Ciężka płucna proteinoza pęcherzykowa o wczesnym pocztąku spowodowana niedoborem MARS | PAP, typ wyspy Reunion · Płucna proteinoza pęcherzykowa, typ wyspy Reunion · Śródmiąższowa choroba płuc i wątroby |
| cs | Těžká plicní alveolární proteinóza s časným nástupem způsobená deficitem MARS | Hereditání plicní alveolární proteinóza s postižením jater · Intersticiální choroba plic a jater · PAP, Typ ostrov Reunion · Plicní alveolární proteinóza, typ ostrov Reunion |
| uk | Тяжкий ранній легеневий альвеолярний протеїноз, зумовлений дефіцитомMARS | Спадковий альвеолярний протеїноз легень з ураженням печінки · Інтерстиціальні захворювання легень та печінки · PAP, острівний тип Реюньйон · Легеневий альвеолярний протеїноз, острівний тип Реюньйону |
| zh | MARS缺乏所致严重早发性肺泡蛋白沉着症 | 遗传性肺泡蛋白沉着症伴肝脏累及 |
| tr | MARS eksikliğine bağlı ağır erken başlangıçlı pulmoner alveolar proteinoz | PAP, Reunion adası tipi · İnterstisyel akciğer ve karaciğer hastalığı · Pulmoner alveolar proteinoz, Reunion adası tipi · Karaciğer tutulumu ile seyreden kalıtsal pulmoner alveolar proteinoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615486 | E | validated | |
| ICD-10 | J84.0 | NTBT | attributed | validated |
| ICD-11 | CB04.31 | NTBT | attributed | validated |
| MONDO | 0014206 | E | validated | |
| UMLS | C4225400 | 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 (3):
- ORPHA:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MARS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6898 | ENSG00000166986 | 156560 | 12q13.3 | methionyl-tRNA synthetase 1 | 24103465[PMID]_25913036[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 25913036[PMID]_24103465[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | Source: 25913036[PMID]_24103465[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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440427
- This record as JSON: /data/d/440427.json