MCID: HMC038
MIFTS: 37

Hemochromatosis, Neonatal

Categories: Blood diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Hemochromatosis, Neonatal

MalaCards integrated aliases for Hemochromatosis, Neonatal:

Name: Hemochromatosis, Neonatal 58
Neonatal Hemochromatosis 77 54 60 74
Nhc 58 54
Nh 58 54
Idiopathic Neonatal Hemochromatosis 54
Alloimmune Hepatitis, Congenital 58
Giant Cell Hepatitis, Formerly 58
Neonatal Hepatitis, Formerly 58
Hemochromatosis Neonatal 54

Characteristics:

Orphanet epidemiological data:

60
neonatal hemochromatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapid progression
onset in utero or at birth
death usually in newborn period or infancy


HPO:

33
hemochromatosis, neonatal:
Onset and clinical course rapidly progressive congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 231100
MESH via Orphanet 46 C536394
ICD10 via Orphanet 35 E83.1
UMLS via Orphanet 75 C0268059
Orphanet 60 ORPHA446
MedGen 43 C0268059
UMLS 74 C0268059

Summaries for Hemochromatosis, Neonatal

NIH Rare Diseases : 54 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 organs is toxic and can cause organ damage. In this form of hemochromatosis, the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first days of life. Babies with the disease may be born very early (premature) or struggle to grow in the womb (intrauterine growth restriction). Symptoms of neonatal hemochromatosis may include low blood sugar (hypoglycemia), abnormalities in blood clotting, yellowing of the skin and eyes (jaundice), and swelling (edema). The exact cause of neonatal hemochromatosis is unknown. It is thought that the disease may be caused by a pregnant woman�??s immune system recognizing cells of the baby�??s liver as foreign. If a woman had a baby with neonatal hemochromatosis, each future child has an 80% chance to have the disease as well. A diagnosis of neonatal hemochromatosis is suspected when a doctor observes signs and symptoms of hemochromatosis or liver disease in a newborn. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. Treatment options may include blood exchange transfusion, intravenous immunoglobulin (IVIG) therapy, and liver transplant. 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

MalaCards based summary : Hemochromatosis, Neonatal, also known as neonatal hemochromatosis, is related to nance-horan syndrome and epidermolysis bullosa, junctional, non-herlitz type. Affiliated tissues include liver, skin and eye, and related phenotypes are anteverted nares and hypoglycemia

OMIM : 58 Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). (231100)

Wikipedia : 77 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Related Diseases for Hemochromatosis, Neonatal

Diseases related to Hemochromatosis, Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 249)
# Related Disease Score Top Affiliating Genes
1 nance-horan syndrome 12.3
2 epidermolysis bullosa, junctional, non-herlitz type 11.6
3 cataract 40 11.4
4 hemochromatosis, type 3 11.2
5 hemochromatosis, type 4 11.2
6 hemochromatosis, type 5 11.2
7 hemochromatosis type 2 11.2
8 serine deficiency 11.1
9 localized junctional epidermolysis bullosa, non-herlitz type 11.1
10 disease of mental health 10.4
11 hemochromatosis, type 1 10.4
12 juvenile hereditary hemochromatosis 10.4
13 breast cancer 10.3
14 influenza 10.3
15 disorganization, mouse, homolog of 10.2
16 cystic fibrosis 10.2
17 nevus comedonicus 10.2
18 dermatitis 10.2
19 heparin-induced thrombocytopenia 10.2
20 siderosis 10.2
21 melioidosis 10.2
22 retinoblastoma 10.2
23 dermatitis, atopic 10.1
24 primary orthostatic tremor 10.1
25 horns in sheep 10.1
26 acute insulin response 10.1
27 blood group, gerbich system 10.1
28 hepatitis 10.1
29 learning disability 10.1
30 cataract 10.0
31 chronic fatigue syndrome 10.0
32 galactosemia 10.0
33 renal tubular dysgenesis 10.0
34 colorectal cancer 10.0
35 carney complex, type 1 10.0
36 prostate cancer 10.0
37 caronte 10.0
38 anxiety 10.0
39 diabetes mellitus 10.0
40 pemphigus foliaceus 10.0
41 dementia 10.0
42 prostate cancer, hereditary, 8 10.0
43 prostate cancer, hereditary, 6 10.0
44 cardiac arrest 10.0
45 hepatitis c 10.0
46 eating disorder 10.0
47 decubitus ulcer 10.0
48 plasmacytoma 10.0
49 spondyloenchondrodysplasia 10.0
50 patent ductus venosus 9.9

Graphical network of the top 20 diseases related to Hemochromatosis, Neonatal:



Diseases related to Hemochromatosis, Neonatal

Symptoms & Phenotypes for Hemochromatosis, Neonatal

Human phenotypes related to Hemochromatosis, Neonatal:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteverted nares 60 33 hallmark (90%) Very frequent (99-80%) HP:0000463
2 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 aplasia/hypoplasia of the nipples 60 33 hallmark (90%) Very frequent (99-80%) HP:0006709
5 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612
6 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
7 abnormal localization of kidney 60 33 hallmark (90%) Very frequent (99-80%) HP:0100542
8 prolonged neonatal jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0006579
9 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
10 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
11 increased serum iron 60 33 hallmark (90%) Very frequent (99-80%) HP:0003452
12 abnormal bleeding 33 HP:0001892
13 intrauterine growth retardation 33 HP:0001511
14 hepatic fibrosis 33 HP:0001395
15 cirrhosis 33 HP:0001394
16 hepatic failure 33 HP:0001399
17 cholestasis 33 HP:0001396
18 oligohydramnios 33 HP:0001562
19 nonimmune hydrops fetalis 33 HP:0001790
20 hepatocellular necrosis 33 HP:0001404

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypoglycemia
increased serum iron
increased transferrin saturation
increased ferritin

Abdomen Liver:
hepatic fibrosis
cirrhosis
hepatic failure
cholestasis
hepatocellular necrosis
more
Skin Nails Hair Skin:
jaundice, neonatal

Cardiovascular Heart:
myocardial iron deposition

Genitourinary Kidneys:
iron deposition in renal tubular cells

Immunology:
extrahepatic reticuloendothelial system spared

Growth Other:
intrauterine growth retardation

Prenatal Manifestations Amniotic Fluid:
oligohydramnios
nonimmune hydrops

Hematology:
bleeding diathesis

Abdomen Pancreas:
iron deposition in acinar cells

Endocrine Features:
endocrine glands with iron deposition

Clinical features from OMIM:

231100

Drugs & Therapeutics for Hemochromatosis, Neonatal

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628

Search NIH Clinical Center for Hemochromatosis, Neonatal

Genetic Tests for Hemochromatosis, Neonatal

Anatomical Context for Hemochromatosis, Neonatal

MalaCards organs/tissues related to Hemochromatosis, Neonatal:

42
Liver, Skin, Eye, Fetal Liver, Heart, Testes, Pancreas

Publications for Hemochromatosis, Neonatal

Articles related to Hemochromatosis, Neonatal:

(show top 50) (show all 119)
# Title Authors Year
1
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. ( 30737051 )
2019
2
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. ( 30149691 )
2019
3
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. ( 29287003 )
2018
4
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. ( 29890876 )
2018
5
Broadening the spectrum of neonatal hemochromatosis. ( 30058407 )
2018
6
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. ( 30464860 )
2018
7
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. ( 28085791 )
2017
8
Neonatal Hemochromatosis: Blitz Diagnosis Results in Favorable Outcome. ( 28161201 )
2017
9
Disparate clinical findings in monochorionic twins with neonatal hemochromatosis. ( 29359379 )
2017
10
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. ( 27403610 )
2016
11
Fetal Magnetic Resonance Imaging Detection of Liver Iron Deposition in Neonatal Hemochromatosis During Prenatal Therapy. ( 27331656 )
2016
12
Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis. ( 27437193 )
2016
13
Antenatal immunoglobulin for prevention of neonatal hemochromatosis. ( 27507570 )
2016
14
An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis. ( 27871472 )
2016
15
Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure. ( 25444000 )
2015
16
Liver transplantation for neonatal hemochromatosis: analysis of the UNOS database. ( 25557040 )
2015
17
Neonatal hemochromatosis in monochorionic twins. ( 26836824 )
2015
18
Patent ductus venosus and acute liver failure in the neonate: consider neonatal hemochromatosis with liver scarring. ( 24136749 )
2014
19
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. ( 25222808 )
2014
20
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis. ( 24456940 )
2014
21
Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping. ( 24990465 )
2014
22
Clinical and Imaging Resolution of Neonatal Hemochromatosis following Treatment. ( 25057417 )
2014
23
Harlequin color change after abdominal paracentesis in a newborn with neonatal hemochromatosis. ( 25209959 )
2014
24
Successful treatment of neonatal hemochromatosis as gestational alloimmune liver disease with intravenous immunoglobulin. ( 25468619 )
2014
25
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia? ( 23783020 )
2013
26
Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report. ( 23269232 )
2013
27
Neonatal hemochromatosis: management, outcome, and prevention. ( 24030714 )
2013
28
Neonatal hemochromatosis. Case series from Bahrain. ( 24343468 )
2013
29
Neonatal hemochromatosis. ( 25755519 )
2013
30
Glyceroluria and neonatal hemochromatosis. ( 21886008 )
2012
31
Control of iron metabolism--lessons from neonatal hemochromatosis. ( 22402293 )
2012
32
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. ( 22901025 )
2012
33
Gestational alloimmune liver disease and neonatal hemochromatosis. ( 23397533 )
2012
34
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. ( 21478040 )
2011
35
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. ( 21247995 )
2011
36
Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure. ( 21397814 )
2011
37
Labial salivary gland biopsy in the investigation of neonatal hemochromatosis. ( 21723022 )
2011
38
Neonatal hemochromatosis: a case report with unique presentation. ( 21980852 )
2011
39
Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: a case report and review of the literature. ( 22070213 )
2011
40
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. ( 19887127 )
2010
41
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. ( 19809376 )
2010
42
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. ( 20482801 )
2010
43
Exchange transfusion as a possible therapy for neonatal hemochromatosis. ( 20386319 )
2010
44
"Neonatal hemochromatosis": a re-vision. ( 20512982 )
2010
45
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. ( 20639702 )
2010
46
A case report of neonatal diabetes due to neonatal hemochromatosis. ( 20662354 )
2010
47
Living donor liver transplantation for neonatal hemochromatosis using non-anatomically resected segments II and III: a case report. ( 21092086 )
2010
48
Neonatal diabetes due to neonatal hemochromatosis. ( 21284338 )
2010
49
Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls. ( 19458947 )
2009
50
Neonatal hemochromatosis: a case report. ( 19363327 )
2009

Variations for Hemochromatosis, Neonatal

Expression for Hemochromatosis, Neonatal

Search GEO for disease gene expression data for Hemochromatosis, Neonatal.

Pathways for Hemochromatosis, Neonatal

GO Terms for Hemochromatosis, Neonatal

Sources for Hemochromatosis, Neonatal

3 CDC
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10 dbSNP
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17 EFO
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33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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