Caffey disease: genes and variants
Explore variant evidence for Caffey disease across 1 analyzed protein (COL1A1). Linked ClinVar records include 15 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 12 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Caffey disease
COL1A1: Collagen alpha-1(I) chain
The alpha-1 chain of type I collagen, the main fibrillar collagen in connective tissue, bone, and skin. Together with its partner chain, it forms strong extracellular fibers, and COL1A1 variants are associated with osteogenesis imperfecta and several Ehlers-Danlos syndromes.
15 ClinVar pathogenic / likely pathogenic and 15 uncertain variants in COL1A1 have source records linked to Caffey disease. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Caffey disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| COL1A1 G257R | 257 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G272C | 272 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G338S | 338 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G200S | 200 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G203D | 203 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G719S | 719 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 G1076S | 1076 | Triple-helical region | Pathogenic / likely pathogenic (★★) |
| COL1A1 T1298N | 1298 | Fibrillar collagen NC1 | Pathogenic / likely pathogenic (★★) |
| COL1A1 R918C | 918 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G296V | 296 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G398R | 398 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G467E | 467 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G578D | 578 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G878A | 878 | Triple-helical region | Pathogenic / likely pathogenic (★) |
| COL1A1 G1133E | 1133 | Triple-helical region | Pathogenic / likely pathogenic (★) |
Which prediction tools work for Caffey disease
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- ESM1b (LLR): 99 out of 100
- CATVariant: 99 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- AlphaMissense: 96 out of 100
- SIFT: 91 out of 100
Same protein, different disease
- Osteogenesis imperfecta also has ClinVar records linked to COL1A1 variants; they fall mostly in different places as the Caffey disease variants (239 pathogenic / likely pathogenic).
- Osteogenesis imperfecta, perinatal lethal also has ClinVar records linked to COL1A1 variants; they fall mostly in different places as the Caffey disease variants (52 pathogenic / likely pathogenic).
- Osteogenesis imperfecta with normal sclerae, dominant form also has ClinVar records linked to COL1A1 variants; they fall mostly in different places as the Caffey disease variants (34 pathogenic / likely pathogenic).
- Ehlers-Danlos syndrome, arthrochalasia type also has ClinVar records linked to COL1A1 variants; they fall mostly in different places as the Caffey disease variants (10 pathogenic / likely pathogenic).
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 also has ClinVar records linked to COL1A1 variants; they fall mostly in different places as the Caffey disease variants (6 pathogenic / likely pathogenic).
Diseases related to Caffey disease
- Osteogenesis imperfecta, also linked to COL1A1
- Ehlers-Danlos syndrome, classic type, 1, also linked to COL1A1
- Ehlers-Danlos syndrome, also linked to COL1A1
- Osteogenesis imperfecta, perinatal lethal, also linked to COL1A1
- Osteogenesis imperfecta with normal sclerae, dominant form, also linked to COL1A1
- Phenylketonuria, also linked to COL1A1
- Connective tissue disease, also linked to COL1A1
- Ehlers-Danlos syndrome, arthrochalasia type, also linked to COL1A1
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, also linked to COL1A1
- Fetal anomalies with a likely genetic cause, also linked to COL1A1
- Osteoporosis, also linked to COL1A1
- Postmenopausal osteoporosis, also linked to COL1A1
Frequently asked questions
Which genes have records linked to Caffey disease?
This view contains 1 analyzed proteins: COL1A1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 15 pathogenic or likely pathogenic variants, 3 variants of uncertain significance and 12 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 33 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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