Surfactant metabolism dysfunction, pulmonary, 2
diseaseOn this page
Also known as desquamative interstitial pneumonitis due to surfactant Protein C deficiencyinterstitial lung disease due to surfactant Protein C deficiencypulmonary alveolar proteinosis, congenital, 2SMDP2
Summary
Surfactant metabolism dysfunction, pulmonary, 2 (MONDO:0024465) is a disease caused by SFTPC (GenCC Definitive), with 1 cohort gene.
At a glance
- Causal gene: SFTPC (GenCC Definitive)
- Cohort genes: 1
- ClinVar variants: 70
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | surfactant metabolism dysfunction, pulmonary, 2 |
| Mondo ID | MONDO:0024465 |
| MeSH | C567048 |
| OMIM | 610913 |
| UMLS | C1970470 |
| MedGen | 410078 |
| GARD | 0025399 |
| Is cancer (heuristic) | no |
Also known as: desquamative interstitial pneumonitis due to surfactant Protein C deficiency · interstitial lung disease due to surfactant Protein C deficiency · pulmonary alveolar proteinosis, congenital, 2 · SMDP2 · surfactant metabolism dysfunction, pulmonary, 2
Data availability: 70 ClinVar variants · 4 GenCC gene-disease records.
Disease family
Classification path: disease › human disease › disease by body system or component › respiratory system disorder › lower respiratory tract disorder › lung disorder › pulmonary alveolar proteinosis › hereditary pulmonary alveolar proteinosis › surfactant metabolism dysfunction, pulmonary, 2
Related subtypes (7): surfactant metabolism dysfunction, pulmonary, 1, surfactant metabolism dysfunction, pulmonary, 4, interstitial lung disease due to ABCA3 deficiency, surfactant metabolism dysfunction, pulmonary, 5, severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, chronic respiratory distress with surfactant metabolism deficiency, SFTPC-related interstitial lung disease
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
70 retrieved; paginated sample, class counts are floors:
16 uncertain significance, 13 benign, 13 benign/likely benign, 11 conflicting classifications of pathogenicity, 8 pathogenic, 5 likely pathogenic, 3 likely benign, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 13207 | NM_001317778.2(SFTPC):c.435+1G>A | SFTPC | Pathogenic | criteria provided, single submitter |
| 13208 | NM_001317778.2(SFTPC):c.218T>C (p.Ile73Thr) | SFTPC | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 13210 | NM_001317778.2(SFTPC):c.545T>A (p.Leu182Gln) | SFTPC | Pathogenic | no assertion criteria provided |
| 13211 | NM_001317778.2(SFTPC):c.435+1G>T | SFTPC | Pathogenic | no assertion criteria provided |
| 13212 | NM_001317778.2(SFTPC):c.347C>A (p.Ala116Asp) | SFTPC | Pathogenic | no assertion criteria provided |
| 13213 | NM_001317778.2(SFTPC):c.196G>A (p.Glu66Lys) | SFTPC | Pathogenic | no assertion criteria provided |
| 13214 | NM_001317778.2(SFTPC):c.563T>C (p.Leu188Pro) | SFTPC | Pathogenic | no assertion criteria provided |
| 1492510 | NM_001317778.2(SFTPC):c.435+2T>C | SFTPC | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 4820074 | NM_001317778.2(SFTPC):c.362G>T (p.Cys121Phe) | SFTPC | Pathogenic | criteria provided, single submitter |
| 1065347 | NM_001317778.2(SFTPC):c.444del (p.Ala149fs) | SFTPC | Likely pathogenic | criteria provided, single submitter |
| 1333368 | NM_001317778.2(SFTPC):c.314A>T (p.Asp105Val) | SFTPC | Likely pathogenic | criteria provided, single submitter |
| 1700691 | NM_001317778.2(SFTPC):c.192C>G (p.His64Gln) | SFTPC | Likely pathogenic | criteria provided, single submitter |
| 3235892 | NM_001317778.2(SFTPC):c.481C>T (p.Arg161Ter) | SFTPC | Likely pathogenic | criteria provided, single submitter |
| 521813 | NM_001317778.2(SFTPC):c.397A>C (p.Ser133Arg) | SFTPC | Likely pathogenic | criteria provided, single submitter |
| 13209 | NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 225466 | NM_001317778.2(SFTPC):c.115G>T (p.Val39Leu) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 3595461 | NM_001317778.2(SFTPC):c.418A>T (p.Lys140Ter) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362551 | NM_001317778.2(SFTPC):c.42G>A (p.Pro14=) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362553 | NM_001317778.2(SFTPC):c.142G>A (p.Val48Met) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362554 | NM_001317778.2(SFTPC):c.176A>G (p.His59Arg) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362560 | NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362561 | NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362562 | NM_001317778.2(SFTPC):c.523C>G (p.Leu175Val) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 911206 | NM_001317778.2(SFTPC):c.157G>A (p.Ala53Thr) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 978452 | NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr) | SFTPC | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 362574 | NM_003018.3(SFTPC):c.*1033G>A | LOC129999976 | Uncertain significance | criteria provided, single submitter |
| 1331721 | NM_001317778.2(SFTPC):c.158_190dup (p.Lys63_His64insProLeuLeuMetGlyLeuHisMetSerGlnLys) | SFTPC | Uncertain significance | criteria provided, single submitter |
| 1705679 | NM_001317778.2(SFTPC):c.187A>G (p.Lys63Glu) | SFTPC | Uncertain significance | criteria provided, single submitter |
| 235391 | NM_001317778.2(SFTPC):c.115G>A (p.Val39Met) | SFTPC | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2435886 | NM_001317778.2(SFTPC):c.150T>G (p.Ile50Met) | SFTPC | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 6 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| SFTPC | Definitive | Autosomal dominant | surfactant metabolism dysfunction, pulmonary, 2 | 6 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SFTPC | Orphanet:2032 | Idiopathic pulmonary fibrosis |
| SFTPC | Orphanet:217566 | Chronic respiratory distress with surfactant metabolism deficiency |
| SFTPC | Orphanet:440392 | Interstitial lung disease due to SP-C deficiency |
| SFTPC | Orphanet:685082 | Pediatric acute respiratory distress syndrome |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SFTPC | HGNC:10802 | ENSG00000168484 | P11686 | Surfactant protein C | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SFTPC | Surfactant protein C | Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Other/Unknown | 1 | 1.8× | 0.558 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SFTPC | Other/Unknown | no | SP-C, BRICHOS_dom, Surfactant_protein_propep |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| adult organism | 1 |
| lower lobe of lung | 1 |
| right lung | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SFTPC | 208 | tissue_specific | marker | lower lobe of lung, right lung, adult organism |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| SFTPC | 1,613 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| SFTPC | P11686 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Defective pro-SFTPC causes SMDP2 and RDS | 1 | 11420.0× | 4e-04 | SFTPC |
| Defective CSF2RB causes SMDP5 | 1 | 1631.4× | 8e-04 | SFTPC |
| Defective CSF2RA causes SMDP4 | 1 | 1631.4× | 8e-04 | SFTPC |
| Surfactant metabolism | 1 | 368.4× | 0.003 | SFTPC |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| respiratory gaseous exchange by respiratory system | 1 | 624.1× | 0.002 | SFTPC |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SFTPC | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | SFTPC |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| SFTPC | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: SFTPC