KEGG   DISEASE: L-ferritin deficiency
Entry
H02938                      Disease                                
Name
L-ferritin deficiency
Description
L-ferritin deficiency (LFTD) is a rare genetic hematologic disease characterized by hypoferritinemia. Clinical symptoms include idiopathic generalized seizures and atypical restless legs syndrome. Asymptomatic cases have also been reported. Mutations in FTL have been reported causing LFTD. FTL encodes the L-ferritin subunit that helps with electron transport in and out of the ferritin core protein and plays a role in iron release.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H02938  L-ferritin deficiency
Gene
FTL [HSA:2512] [KO:K13625]
Other DBs
ICD-11: 5C64.1
OMIM: 615604
Reference
PMID:23940258
  Authors
Cozzi A, Santambrogio P, Privitera D, Broccoli V, Rotundo LI, Garavaglia B, Benz R, Altamura S, Goede JS, Muckenthaler MU, Levi S
  Title
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
  Journal
J Exp Med 210:1779-91 (2013)
DOI:10.1084/jem.20130315
Reference
PMID:15173247
  Authors
Cremonesi L, Cozzi A, Girelli D, Ferrari F, Fermo I, Foglieni B, Levi S, Bozzini C, Camparini M, Ferrari M, Arosio P
  Title
Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms.
  Journal
J Med Genet 41:e81 (2004)
DOI:10.1136/jmg.2003.011718
Reference
PMID:30678075
  Authors
Cadenas B, Fita-Torro J, Bermudez-Cortes M, Hernandez-Rodriguez I, Fuster JL, Llinares ME, Galera AM, Romero JL, Perez-Montero S, Tornador C, Sanchez M
  Title
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
  Journal
Pharmaceuticals (Basel) 12:17 (2019)
DOI:10.3390/ph12010017
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