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Disease Profile
Neonatal hemochromatosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
E83.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Idiopathic neonatal Hemochromatosis; NH; NHC;
Categories
Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Neonatal hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the
The exact cause of neonatal hemochromatosis is unknown. It is thought that the disease may be caused by a pregnant woman’s
To learn more about other types of hemochromatosis click on the disease names below:
- Hemochromatosis type 1
- Hemochromatosis type 2
- Hemochromatosis type 3
- Hemochromatosis type 5
- Neonatal hemochromatosis
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ] |
0006709 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Excessive buildup of connective tissue and scarring of liver at birth
|
0002612 | |
Low blood sugar
|
0001943 | |
Increased serum ferritin |
Elevated serum ferritin
High ferritin level
Increased ferritin
Increased serum ferritin level
[ more ] |
0003281 |
Increased serum iron | 0003452 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Prolonged neonatal |
Prolonged yellowing of skin in newborn
|
0006579 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal bleeding |
Bleeding tendency
|
0001892 |
0000007 | ||
Cholestasis |
Slowed or blocked flow of bile from liver
|
0001396 |
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
Congenital onset |
Symptoms present at birth
|
0003577 |
Hepatic failure |
Liver failure
|
0001399 |
Hepatic fibrosis | 0001395 | |
Hepatocellular necrosis |
Death of liver cells
|
0001404 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Nonimmune hydrops fetalis | 0001790 | |
Oligohydramnios |
Low levels of amniotic fluid
|
0001562 |
Rapidly progressive |
Worsening quickly
|
0003678 |
Cause
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Canadian Hemochromatosis Society
7000 Minoru Boulevard
Suite 285
Richmond British Columbia, V6Y 3Z5 Canada
Toll-free: (877) 223-4766
Telephone: (604) 279-7135
E-mail: [email protected]
Website: https://www.toomuchiron.ca -
Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Telephone: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
E-mail: [email protected]
Website: https://www.childliverdisease.org/ -
Haemochromatosis Society
PO Box 6356
Rugby Warwickshire , CV21 9PA United Kingdom
Telephone: 03030 401 101
E-mail: [email protected], [email protected]
Website: https://haemochromatosis.org.uk/ -
Iron Disorders Institute Inc.
P.O. Box 4891
Greenville, SC 29608
Fax: 864-292-1878
E-mail: [email protected]
Website: https://www.irondisorders.org/ -
Neonatal Hemochromatosis Information Center
P.O. Box 950871
Lake Mary, FL 32795-0871
Toll-free: 1-888-655-IRON
Telephone: 407-829-4488
E-mail: https://www.neonatalhemochromatosis.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Neonatal hemochromatosis. Click on the link to view a sample search on this topic.
References
- Whitington PF. Neonatal hemochromatosis. National Organization for Rare Disorders. 2015; https://rarediseases.org/rare-diseases/neonatal-hemochromatosis/.
- Simonin AM and Bhatia J. Neonatal Hemochromatosis. Medscape. October 20, 2017; https://emedicine.medscape.com/article/929625-overview.
- Saudubray JM. Neonatal hemochromatosis. Orphanet. February 2005; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446.
- Hemochromatosis, Neonatal. Online Mendelian Inheritance in Man. July 5, 2016; https://www.omim.org/entry/231100.
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