Details of Disease

General Information of Disease (ID: DISYM9UP)

• Disease Name: Hemochromatosis type 2
• Synonyms: hemochromatosis juvenile; iron overload disease juvenile; JHH; Juvenile Hemochromatosis; HFE2; juvenile hemochromatosis
• Definition: Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
• Disease Hierarchy:
  DISVG5MT: Hereditary hemochromatosis
  DISYM9UP: Hemochromatosis type 2
• Disease Identifiers:
  MONDO ID: MONDO_0019257
  MESH ID: C537247
  UMLS CUI: C0268060
  MedGen ID: 82769
  SNOMED CT ID: 50855007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTNR1B	TT32JK8	Limited	Biomarker	[1]
TMPRSS6	TTL9KE7	Limited	Biomarker	[1]
HAMP	TTPCG5T	Supportive	Autosomal recessive	[2]
HAMP	TTRV5YJ	Strong	Biomarker	[1]
RGMA	TTURJV4	Definitive	Biomarker	[3]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC39A1	DTLWPXS	Limited	Biomarker	[4]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RRS1	OTTNCZN6	Limited	Biomarker	[5]
HAMP	OT607RBL	Supportive	Autosomal recessive	[2]
HJV	OT4235J2	Supportive	Autosomal recessive	[2]
TFR2	OTMYCCEO	moderate	Biomarker	[6]
RGMB	OT2DROYU	Definitive	Biomarker	[3]

References

• [1] Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia.Am J Physiol Cell Physiol. 2015 Apr 1;308(7):C539-47. doi: 10.1152/ajpcell.00264.2014. Epub 2015 Jan 14.
• [2] Juvenile Hemochromatosis. 2005 Feb 17 [updated 2020 Jan 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [3] RGMs: Structural Insights, Molecular Regulation, and Downstream Signaling.Trends Cell Biol. 2017 May;27(5):365-378. doi: 10.1016/j.tcb.2016.11.009. Epub 2016 Dec 19.
• [4] Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21.Blood Cells Mol Dis. 2000 Jun;26(3):205-10. doi: 10.1006/bcmd.2000.0297.
• [5] Juvenile hormone and its receptor methoprene-tolerant promote ribosomal biogenesis and vitellogenesis in the Aedes aegypti mosquito.J Biol Chem. 2017 Jun 16;292(24):10306-10315. doi: 10.1074/jbc.M116.761387. Epub 2017 Apr 26.
• [6] Current approaches to the management of hemochromatosis.Hematology Am Soc Hematol Educ Program. 2006:36-41. doi: 10.1182/asheducation-2006.1.36.