NH
MCID: HMC038
MIFTS: 34

Hemochromatosis, Neonatal (NH)

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

Aliases & Classifications for Hemochromatosis, Neonatal

MalaCards integrated aliases for Hemochromatosis, Neonatal:

Name: Hemochromatosis, Neonatal 57
Neonatal Hemochromatosis 75 53 59 72
Nhc 57 53
Nh 57 53
Idiopathic Neonatal Hemochromatosis 53
Alloimmune Hepatitis, Congenital 57
Giant Cell Hepatitis, Formerly 57
Neonatal Hepatitis, Formerly 57
Hemochromatosis Neonatal 53

Characteristics:

Orphanet epidemiological data:

59
neonatal hemochromatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hemochromatosis, neonatal:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive congenital onset


Classifications:



External Ids:

OMIM 57 231100
MESH via Orphanet 45 C536394
ICD10 via Orphanet 34 E83.1
UMLS via Orphanet 73 C0268059
Orphanet 59 ORPHA446
MedGen 42 C0268059
UMLS 72 C0268059

Summaries for Hemochromatosis, Neonatal

NIH Rare Diseases : 53 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, fetal liver and heart, and related phenotypes are anteverted nares and hypoglycemia

OMIM : 57 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 : 75 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 463)
# Related Disease Score Top Affiliating Genes
1 nance-horan syndrome 12.3
2 epidermolysis bullosa, junctional, non-herlitz type 11.7
3 cataract 40 11.5
4 hemochromatosis, type 3 11.3
5 hemochromatosis, type 4 11.3
6 hemochromatosis, type 5 11.3
7 serine deficiency 11.2
8 localized junctional epidermolysis bullosa, non-herlitz type 11.2
9 immunodeficiency, common variable, 10 10.5
10 hemochromatosis, type 1 10.5
11 disease of mental health 10.5
12 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
13 cataract 10.4
14 hair whorl 10.3
15 melioidosis 10.3
16 learning disability 10.3
17 dermatitis 10.2
18 siderosis 10.2
19 breast cancer 10.2
20 dermatitis, atopic 10.2
21 infertility 10.2
22 rare surgical neurologic disease 10.2
23 cholestasis 10.2
24 triiodothyronine receptor auxiliary protein 10.2
25 dementia 10.2
26 acute cystitis 10.2
27 body mass index quantitative trait locus 11 10.1
28 body mass index quantitative trait locus 9 10.1
29 body mass index quantitative trait locus 8 10.1
30 late-onset retinal degeneration 10.1
31 body mass index quantitative trait locus 4 10.1
32 body mass index quantitative trait locus 10 10.1
33 body mass index quantitative trait locus 7 10.1
34 body mass index quantitative trait locus 12 10.1
35 body mass index quantitative trait locus 14 10.1
36 body mass index quantitative trait locus 18 10.1
37 body mass index quantitative trait locus 19 10.1
38 body mass index quantitative trait locus 20 10.1
39 inguinal hernia 10.1
40 chronic fatigue syndrome 10.1
41 galactosemia 10.1
42 renal tubular dysgenesis 10.1
43 metabolic acidosis 10.1
44 impotence 10.1
45 48,xyyy 10.1
46 rare disease in surgical orthopedic 10.1
47 prostate cancer 10.1
48 cystic fibrosis 10.1
49 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
50 cardiac arrest 10.1

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
2 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
3 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
4 aplasia/hypoplasia of the nipples 59 32 hallmark (90%) Very frequent (99-80%) HP:0006709
5 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
6 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
7 abnormal localization of kidney 59 32 hallmark (90%) Very frequent (99-80%) HP:0100542
8 prolonged neonatal jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0006579
9 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
10 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
11 increased serum iron 59 32 hallmark (90%) Very frequent (99-80%) HP:0003452
12 abnormal bleeding 32 HP:0001892
13 cirrhosis 32 HP:0001394
14 intrauterine growth retardation 32 HP:0001511
15 hepatic fibrosis 32 HP:0001395
16 hepatic failure 32 HP:0001399
17 cholestasis 32 HP:0001396
18 oligohydramnios 32 HP:0001562
19 nonimmune hydrops fetalis 32 HP:0001790
20 hepatocellular necrosis 32 HP:0001404

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypoglycemia
increased serum iron
increased transferrin saturation
increased ferritin

Growth Other:
intrauterine growth retardation

Skin Nails Hair Skin:
jaundice, neonatal

Cardiovascular Heart:
myocardial iron deposition

Genitourinary Kidneys:
iron deposition in renal tubular cells

Immunology:
extrahepatic reticuloendothelial system spared

Abdomen Liver:
cirrhosis
hepatic fibrosis
hepatic failure
cholestasis
hepatocellular necrosis
more
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:

41
Liver, Fetal Liver, Heart, Skin, Testes, Pancreas, Eye

Publications for Hemochromatosis, Neonatal

Articles related to Hemochromatosis, Neonatal:

(show top 50) (show all 196)
# Title Authors PMID Year
1
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. 38 8
18474533 2008
2
Neonatal hemochromatosis: a congenital alloimmune hepatitis. 38 8
17682971 2007
3
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. 38 8
9285385 1997
4
Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. 38 8
8213678 1993
5
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. 38 8
2260562 1990
6
Neonatal hemochromatosis. Genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region. 38 8
1973598 1990
7
Idiopathic neonatal hemochromatosis in siblings. An inborn error of metabolism. 38 8
14462830 1961
8
Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism. 8
11546828 2001
9
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. 8
8782042 1996
10
Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. 8
8301429 1994
11
Neonatal haemochromatosis. 8
2258173 1990
12
Repetitive maternal-fetal transmission of fatal hepatitis B. 8
1186838 1975
13
FAMILIAL "GIANT-CELL HEPATITIS" IN INFANCY. CLINICAL, PATHOLOGIC, AND GENETIC STUDIES ON A LARGE FAMILY. 8
14120410 1964
14
A GENETIC STUDY OF NEONATAL OBSTRUCTIVE JAUNDICE. 8
14058813 1963
15
Perinatal idiopathic hemochromatosis: giant cell hepatitis interpreted as an inborn error of metabolism. 8
13822700 1960
16
Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis. 38
31424295 2019
17
Sub-acute neonatal hemochromatosis in an infant with hypoplastic left heart syndrome on ventricular assist device awaiting transplantation. 38
31407854 2019
18
Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience. 38
31081242 2019
19
Neonatal hemochromatosis associated with rupture of esophageal varices. 38
31359540 2019
20
Neonatal hemochromatosis in a newborn with Down syndrome. 38
31215296 2019
21
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 38
30737051 2019
22
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. 38
30149691 2019
23
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. 38
30378124 2019
24
Prenatal imaging features suggestive of liver gestational allo immune disease. 38
30465890 2019
25
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. 38
30464860 2018
26
Broadening the spectrum of neonatal hemochromatosis. 38
30058407 2018
27
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. 38
29890876 2018
28
The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality. 38
29499991 2018
29
Liver Failure and Conjugated Hyperbilirubinemia in a Preterm Neonate: Role of Early IVIG and Exchange Transfusion. 38
29765787 2018
30
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. 38
29287003 2018
31
Disparate clinical findings in monochorionic twins with neonatal hemochromatosis. 38
29359379 2017
32
Neonatal Hemochromatosis: Blitz Diagnosis Results in Favorable Outcome. 38
28161201 2017
33
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. 38
28085791 2017
34
Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure. 38
28437325 2017
35
Neonatal acute liver failure: a diagnosis challenge. 38
28318185 2017
36
Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review. 38
28251010 2017
37
[Gestational alloimmune liver disease: a case report]. 38
27869421 2016
38
An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis. 38
27871472 2016
39
Fetal Magnetic Resonance Imaging Detection of Liver Iron Deposition in Neonatal Hemochromatosis During Prenatal Therapy. 38
27331656 2016
40
Gestational Alloimmune Liver Disease: A Devastating Condition Preventable With Maternal Intravenous Immunoglobulin. 38
27741190 2016
41
Antenatal immunoglobulin for prevention of neonatal hemochromatosis. 38
27507570 2016
42
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. 38
27403610 2016
43
Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis. 38
27437193 2016
44
Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans. 38
27017620 2016
45
[Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure]. 38
25801288 2015
46
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. 38
26331014 2015
47
Neonatal liver failure owing to gestational alloimmune liver disease without iron overload. 38
24976253 2015
48
Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis. 38
25154774 2015
49
Liver transplantation for neonatal hemochromatosis: analysis of the UNOS database. 38
25557040 2015
50
Gestational autoimmune disease in newborns with an indeterminate cause of death following a complete autopsy. 38
25766200 2015

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....