Details of Disease

General Information of Disease (ID: DIST7LTP)

Disease Name Encephalocraniocutaneous lipomatosis
Synonyms encephalocraniocutaneous lipomatosis, somatic mosaic; ECCL; encephalocraniocutaneous lipomatosis; Fishman syndrome; Haberland syndrome
Definition A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
Disease Hierarchy
DIS5HJ01: Subcutaneous tissue disorder
DISYK19E: Lipomatosis
DISK72C0: Benign neoplasm of skin
DIS8I9FS: Hereditary disorder of connective tissue
DISSCALK: Hereditary skin disorder
DIST7LTP: Encephalocraniocutaneous lipomatosis
Disease Identifiers
MONDO ID
MONDO_0013074
MESH ID
C535736
UMLS CUI
C0406612
OMIM ID
613001
MedGen ID
140807
Orphanet ID
2396
SNOMED CT ID
238905009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR1 TTRLW2X Limited Altered Expression [1]
KRAS TTM8FR7 Strong Genetic Variation [2]
FGFR1 TTRLW2X Definitive Somatic mosaicism [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FRS2 OTDMD800 Strong Altered Expression [3]
FGFR1 OT4GLCXW Definitive Somatic mosaicism [3]
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References

1 Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born.J Matern Fetal Neonatal Med. 2020 May;33(10):1732-1743. doi: 10.1080/14767058.2018.1529164. Epub 2018 Nov 14.
2 Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.Clin Genet. 2016 Oct;90(4):334-42. doi: 10.1111/cge.12775. Epub 2016 Apr 29.
3 Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.