KEGG   DISEASE: Schimmelpenning-Feuerstein-Mims syndrome
Entry
H02628                      Disease                                
Name
Schimmelpenning-Feuerstein-Mims syndrome
Description
Schimmelpenning-Feuerstein-Mims syndrome is a rare multisystem disorder characterized by sebaceous nevus associated with extracutaneous abnormalities affecting the brain, eyes, and bones.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H02628  Schimmelpenning-Feuerstein-Mims syndrome
Pathway
hsa04151 PI3K-Akt signaling pathway   
hsa04014 Ras signaling pathway   
Gene
KRAS [HSA:3845] [KO:K07827]
NRAS [HSA:4893] [KO:K07828]
HRAS [HSA:3265] [KO:K02833]
Other DBs
ICD-11: LD2D.Y
MeSH: D054000
OMIM: 163200
Reference
PMID:31090832
  Authors
Lena CP, Kondo RN, Nicolacopulos T
  Title
Do you know this syndrome? Schimmelpenning-Feuerstein-Mims syndrome.
  Journal
An Bras Dermatol 94:227-229 (2019)
DOI:10.1590/abd1806-4841.20197661
Reference
PMID:23255105
  Authors
Hafner C, Groesser L
  Title
Mosaic RASopathies.
  Journal
Cell Cycle 12:43-50 (2013)
DOI:10.4161/cc.23108
Reference
PMID:22683711 (HRAS KRAS)
  Authors
Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, Langmann T, Singer S, Klingseisen L, Schneider-Brachert W, Toll A, Real FX, Landthaler M, Hafner C
  Title
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.
  Journal
Nat Genet 44:783-7 (2012)
DOI:10.1038/ng.2316
Reference
PMID:25914220 (NRAS)
  Authors
Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K
  Title
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
  Journal
Am J Med Genet A 167A:2223-5 (2015)
DOI:10.1002/ajmg.a.37135
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