juvenile hemochromatosis

juvenile hemochromatosis
either of two autosomal recessive iron overload disorders that clinically resemble hereditary hemochromatosis type 1 but have their onset in childhood and lead to death by age 30. The most common of these is caused by mutation in the HJV gene (locus: 1q21), which encodes hemojuvelin; the other is caused by mutation in the HAMP gene (locus: 19q13), which encodes hepcidin. Called also hereditary h. type 2.

Medical dictionary. 2011.

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  • Juvenile hemochromatosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|E|83|1|e|70 ICD9 = ICD9|275.0 ICDO = OMIM = 602390 OMIM mult = OMIM2|606464 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Juvenile hemochromatosis (or hemochromatosis… …   Wikipedia

  • hemochromatosis — hemochromatotic /hee moh kroh meuh tot ik, hem oh /, adj. /hee meuh kroh meuh toh sis, hem euh /, n. Pathol. a rare metabolic disorder characterized by a bronzed skin, cirrhosis, and severe diabetes, caused by the deposit in tissue, esp. of the… …   Universalium

  • Hemochromatosis — An inherited disorder in how the body absorbs and stores iron. The excess iron gives the skin a bronze color and damages the liver and other organs. Diabetes is also a part of the syndrome due to damage to the pancreas. * * * A disorder of iron… …   Medical dictionary

  • Neonatal hemochromatosis — Classification and external resources OMIM 231100 DiseasesDB 34508 Neonatal Hemochromatosis is a rare and severe liver disease …   Wikipedia

  • Hemojuvelin — protein Name=hemochromatosis type 2 (juvenile) caption= width= HGNCid=4887 Symbol=HFE2 AltSymbols= EntrezGene=148738 OMIM=608374 RefSeq=NM 145277 UniProt=Q6ZVN8 PDB= ECnumber= Chromosome=1 Arm=q Band=21.2 LocusSupplementaryData=Hemojuvelin… …   Wikipedia

  • HAMP — Hepcidin antimicrobial peptide, also known as HAMP, is a human gene.cite web | title = Entrez Gene: HAMP hepcidin antimicrobial peptide| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=57817| accessdate = ]… …   Wikipedia

  • Hepcidin — Pfam box Symbol = Hepcidin Name = Hepcidin width = caption = Pfam= PF06446 InterPro= IPR010500 SMART= Prosite = SCOP = 1m4f TCDB = OPM family= OPM protein= 1m4e PDB=PDB3|1m4fA:60 84 PDB3|1m4eA:65 84protein Name=hepcidin antimicrobial peptide… …   Wikipedia

  • Iron metabolism disorder — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|E|83|1|e|70 | ICD9 = ICD9|275.0 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D019189 Genes involved in iron metabolism disorders include HFE and… …   Wikipedia

  • Furin — FUR redirects here. For other uses, see Fur (disambiguation). Furin (paired basic amino acid cleaving enzyme) PDB rendering based on 1p8j …   Wikipedia

  • Michael R. Hayden — Michael R Hayden Born Capetown, South Africa Residence Vancouver, British Columbia, Canada …   Wikipedia

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