Interstitial lung disease due to SP-C deficiency
Synonyms: Interstitial lung disease due to surfactant protein C deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic interstitial lung disease characterized by diffuse lung disease of variable phenotype ranging from severe respiratory insufficiency in infancy to asymptomatic adults, due to surfactant protein C deficiency. Typical presentation in infancy includes dyspnea, cough, wheezing, and gradual cyanosis, with or without failure to thrive. Radiological findings include diffuse ground-glass opacities in neonates, later interstitial thickening associated with lung hyperinflation, intraparenchymal/subpleural cysts, honeycombing, subpleural nodules, or bronchiectasis. Infiltrates and air leaks are frequent complications.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Interstitial lung disease due to SP-C deficiency | Interstitial lung disease due to surfactant protein C deficiency |
| fr | Pneumopathie interstitielle par déficit en SP-C | Pneumopathie interstitielle par déficit en protéine C du surfactant |
| de | Interstitielle Lungenerkrankung durch SP-C-Mangel | Interstitielle Lungenerkrankung durch Surfactant-Protein-C-Mangel |
| es | Enfermedad pulmonar intersticial por deficiencia de SP-C | Enfermedad pulmonar intersticial por deficiencia de la proteína C surfactante |
| it | Pneumopatia interstiziale da deficit di SP-C | Malattia polmonare interstiziale da deficit della proteina C del surfattante |
| nl | Interstitiële longziekte door SP-C-deficiëntie | Interstitiële longziekte door surfactant proteïne C-deficiëntie |
| pt | Doença pulmonar intersticial por défice de SP-C | |
| pl | Śródmiąższowa choroba płuc spowodowana niedoborem SP-C | Śródmiąższowa choroba płuc spowodowana niedoborem białka C surfaktantu |
| cs | Intersticiální plicní onemocnění způsobené deficitem SP-C | Intersticiální plicní onemocnění způsobené deficitem surfaktantového proteinu C |
| uk | Інтерстиціальне захворювання легень, зумовлене дефіцитом SP-C | Інтерстиціальне захворювання легень через дефіцит протеїну С сурфактанта |
| zh | SP-C缺乏引所致间质性肺疾病 | 表面活性蛋白C缺乏导致的间质性肺病 |
| tr | SP-C eksikliğine bağlı interstisyel akciğer hastalığı | Sürfaktan protein C eksikliğine bağlı interstisyel akciğer hastalığı |
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 | 0018603 | E | validated | |
| MeSH | C567048 | E | validated | |
| UMLS | C1970470 | 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 | 25782673[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 21 cases | Worldwide | Case(s) | Validated | 11207353[PMID]_11445799[PMID]_11991887[PMID]_15039969[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11207353[PMID]_11445799[PMID]_11991887[PMID]_15039969[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440392
- This record as JSON: /data/d/440392.json