Chronic respiratory distress with surfactant metabolism deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Chronic respiratory distress with surfactant metabolism deficiency is a rare, genetic, primary interstitial lung disease with a highly variable clinical presentation, ranging from neonatal respiratory distress syndrome to mild to severe interstitial lung disease (typical symptoms include cough, tachypnea, hypoxia, clubbing, crackles, failure to thrive). Lung biopsy reveals diffuse alveolar damage, interstitial thickening with inflammatory infiltrates, fibroblast proliferation, collagen deposition, and multiple foci of fibrosis, alveolar type II cell hyperplasia, abundant foamy alveolar macrophages and granular lipoproteic material in the alveolar lumen. Imaging shows cystic spaces and ground-glass opacities that are typically homogenously diffuse.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic respiratory distress with surfactant metabolism deficiency | |
| fr | Détresse respiratoire chronique avec déficit du métabolisme du surfactant | |
| de | Chronische Atemnot mit Stoffwechseldefekt des Surfactant-Systems | |
| es | Dificultad respiratoria crónica con deficiencia del metabolismo del surfactante | Distrés respiratorio crónico con deficiencia del metabolismo del surfactante |
| it | Distress respiratorio cronico con deficit del metabolismo del surfattante | |
| nl | Chronische ademhalingsnood met deficiëntie van surfactantmetabolisme | |
| pt | Dificuldade respiratória crónica com deficiência no metabolismo do surfactante | |
| pl | Przewlekła niewydolność oddechowa z zaburzeniem metabolizmu surfaktantu | |
| cs | Syndrom chronické dechové tísně s deficitem metabolismu surfaktantu | |
| uk | Хронічний респіраторний дистрес з недостатністю метаболізму сурфактантів | |
| zh | 慢性呼吸窘迫伴表面活性物质代谢缺陷 | |
| tr | Sürfaktan metabolizması eksikliği ile seyreden kronik solunum sıkıntısı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610913 | NTBT | validated | |
| ICD-10 | J84.8 | NTBT | attributed | validated |
| ICD-11 | CB04.2 | NTBT | index | validated |
| MONDO | 0016323 | E | validated | |
| UMLS | C5190853 | 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 (2):
- ORPHA:264992Genetic interstitial lung disease
rare genetic diseases - ORPHA:264930Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SFTPC | Disease-causing germline mutation(s) in | Assessed | HGNC:10802 | ENSG00000168484 | 178620 | 8p21.3 | surfactant protein C | 22018035[PMID]_20403820[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217566
- This record as JSON: /data/d/217566.json