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DISEASE: Hemochromatosis

Entry

H00211                      Disease

Name

Hemochromatosis

Subgroup

Juvenile hemochromatosis

Description

Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body.

Category

Inherited metabolic disorder

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
     H00211  Hemochromatosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00211  Hemochromatosis
Cellular process
  nt06525  Ferroptosis
   H00211  Hemochromatosis

Pathway

hsa04350

TGF-beta signaling pathway

hsa04216

Ferroptosis

Network

nt06507 TGFB signaling
nt06525 Ferroptosis

Gene

(HFE1) HFE [HSA:3077] [KO:K26535]
(HFE2A) HJV [HSA:148738] [KO:K23100]
(HFE2B) HAMP [HSA:57817] [KO:K23106]
(HFE3) TFR2 [HSA:7036] [KO:K23910]
(HFE4) SLC40A1 [HSA:30061] [KO:K14685]
(HFE5) FTH1 [HSA:2495] [KO:K00522]

Other DBs

ICD-11:

5C64.1Y

ICD-10:

E83.1

MeSH:

D006432

OMIM:

235200 602390 613313 604250 606069 615517

Reference

PMID:18061062

Authors

Adams PC, Barton JC.

Title

Haemochromatosis.

Journal

Lancet 370:1855-60 (2007)
DOI:10.1016/S0140-6736(07)61782-6

Reference

PMID:16019461

Authors

Franchini M, Veneri D.

Title

Hereditary hemochromatosis.

Journal

Hematology 10:145-9 (2005)
DOI:10.1080/10245330500065771

Reference

PMID:15747119

Authors

Franchini M, Veneri D.

Title

Recent advances in hereditary hemochromatosis.

Journal

Ann Hematol 84:347-52 (2005)
DOI:10.1007/s00277-005-1006-8

Reference

PMID:8696333 (HFE)

Authors

Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK

Title

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Journal

Nat Genet 13:399-408 (1996)
DOI:10.1038/ng0896-399

Reference

PMID:14647275 (HJV)

Authors

Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP

Title

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

Journal

Nat Genet 36:77-82 (2004)
DOI:10.1038/ng1274

Reference

PMID:12469120 (HAMP)

Authors

Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C

Title

Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

Journal

Nat Genet 33:21-2 (2003)
DOI:10.1038/ng1053

Reference

PMID:10802645 (TFR2)

Authors

Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P

Title

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.

Journal

Nat Genet 25:14-5 (2000)
DOI:10.1038/75534

Reference

PMID:11431687 (SLC40A1)

Authors

Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P

Title

A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Journal

Nat Genet 28:213-4 (2001)
DOI:10.1038/90038

Reference

PMID:11389486 (FTH1)

Authors

Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, Kobune M, Takada K, Takimoto R, Hamada H, Ikeda T, Niitsu Y

Title

A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload.

Journal

Am J Hum Genet 69:191-7 (2001)
DOI:10.1086/321261

LinkDB

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