Encephalocraniocutaneous lipomatosis: genes and variants
Encephalocraniocutaneous lipomatosis is linked to 2 analyzed proteins (FGFR1 and KRAS). 5 DNA variants are known to cause it; 26 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Encephalocraniocutaneous lipomatosis
FGFR1: Fibroblast growth factor receptor 1
Its fibroblast-growth-factor signaling controls proliferation, differentiation, migration, and developmental patterning in many tissues. Germline pathogenic variants can cause hypogonadotropic hypogonadism or craniosynostosis syndromes, while fusions and other activating alterations drive selected cancers.
3 disease-causing and 26 uncertain variants in FGFR1 are linked to Encephalocraniocutaneous lipomatosis.
KRAS: GTPase KRas
A small GTPase that acts as a molecular switch in the RAS-MAPK signaling pathway. By cycling between GDP- and GTP-bound states, it relays growth and survival signals, and activating KRAS variants are common drivers of cancer.
2 disease-causing and 0 uncertain variants in KRAS are linked to Encephalocraniocutaneous lipomatosis.
Known disease-causing variants in Encephalocraniocutaneous lipomatosis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRAS A146P | 146 | Disease-causing (★★) | |
| KRAS A146T | 146 | Disease-causing (★★) | |
| FGFR1 G237D | 237 | Ig-like C2-type 2 | Disease-causing (★★) |
| FGFR1 N546K | 546 | Protein kinase | Disease-causing (★★) |
| FGFR1 K656E | 656 | Protein kinase | Disease-causing (★) |
Same protein, different disease
- Hypogonadotropic hypogonadism 2 with or without anosmia is also caused by FGFR1 variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (55 disease-causing).
- Pfeiffer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (18 disease-causing).
- Hartsfield-Bixler-Demyer syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (13 disease-causing).
- Jackson-Weiss syndrome is also caused by FGFR1 variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (5 disease-causing).
- Osteoglophonic dysplasia is also caused by FGFR1 variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (5 disease-causing).
- RASopathy is also caused by KRAS variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (23 disease-causing).
- Noonan syndrome is also caused by KRAS variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (16 disease-causing).
- Cardiofaciocutaneous syndrome is also caused by KRAS variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (9 disease-causing).
- Autoimmune lymphoproliferative syndrome is also caused by KRAS variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (5 disease-causing).
- Non-small cell lung carcinoma is also caused by KRAS variants; they fall mostly in different places as the Encephalocraniocutaneous lipomatosis variants (5 disease-causing).
Diseases related to Encephalocraniocutaneous lipomatosis
- Colorectal cancer, also linked to FGFR1 and KRAS
- Non-small cell lung carcinoma, also linked to FGFR1 and KRAS
- RASopathy, also linked to KRAS
- Noonan syndrome, also linked to KRAS
- Noonan syndrome and Noonan-related syndrome, also linked to KRAS
- Hypogonadotropic hypogonadism 2 with or without anosmia, also linked to FGFR1
- Cardiofaciocutaneous syndrome, also linked to KRAS
- Cardio-facio-cutaneous syndrome, also linked to KRAS
- Acute myeloid leukemia, also linked to KRAS
- Pfeiffer syndrome, also linked to FGFR1
- Autoimmune lymphoproliferative syndrome, also linked to KRAS
- Familial cancer of breast, also linked to KRAS
Frequently asked questions
Which genes are linked to Encephalocraniocutaneous lipomatosis?
In CATVariant, Encephalocraniocutaneous lipomatosis is linked to 2 analyzed proteins: FGFR1 (Fibroblast growth factor receptor 1) and KRAS (GTPase KRas).
How many genetic variants are linked to Encephalocraniocutaneous lipomatosis?
32 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 26 are of uncertain significance or have conflicting reports.
Which uncertain variants in Encephalocraniocutaneous lipomatosis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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