NH
MCID: HMC038
MIFTS: 35

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 56
Neonatal Hemochromatosis 74 52 58 71
Nhc 56 52
Nh 56 52
Idiopathic Neonatal Hemochromatosis 52
Alloimmune Hepatitis, Congenital 56
Giant Cell Hepatitis, Formerly 56
Neonatal Hepatitis, Formerly 56
Hemochromatosis Neonatal 52

Characteristics:

Orphanet epidemiological data:

58
neonatal hemochromatosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
hemochromatosis, neonatal:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive congenital onset


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

OMIM 56 231100
MESH via Orphanet 44 C536394
ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 72 C0268059
Orphanet 58 ORPHA446
MedGen 41 C0268059
UMLS 71 C0268059

Summaries for Hemochromatosis, Neonatal

NIH Rare Diseases : 52 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 micrognathia and anteverted nares

OMIM : 56 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 : 74 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 464)
# 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 hemochromatosis, type 1 10.5
10 disease of mental health 10.5
11 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
12 cataract 10.4
13 hair whorl 10.3
14 melioidosis 10.3
15 learning disability 10.3
16 dermatitis 10.2
17 siderosis 10.2
18 breast cancer 10.2
19 dermatitis, atopic 10.2
20 triiodothyronine receptor auxiliary protein 10.2
21 acute cystitis 10.2
22 infertility 10.2
23 rare surgical neurologic disease 10.2
24 cholestasis 10.2
25 dementia 10.2
26 48,xyyy 10.2
27 cystic fibrosis 10.1
28 body mass index quantitative trait locus 11 10.1
29 body mass index quantitative trait locus 9 10.1
30 body mass index quantitative trait locus 8 10.1
31 late-onset retinal degeneration 10.1
32 body mass index quantitative trait locus 4 10.1
33 body mass index quantitative trait locus 10 10.1
34 body mass index quantitative trait locus 7 10.1
35 body mass index quantitative trait locus 12 10.1
36 body mass index quantitative trait locus 14 10.1
37 body mass index quantitative trait locus 18 10.1
38 body mass index quantitative trait locus 19 10.1
39 body mass index quantitative trait locus 20 10.1
40 inguinal hernia 10.1
41 chronic fatigue syndrome 10.1
42 galactosemia 10.1
43 renal tubular dysgenesis 10.1
44 fibrosis of extraocular muscles, congenital, 1 10.1
45 metabolic acidosis 10.1
46 impotence 10.1
47 rare disease in surgical orthopedic 10.1
48 aortic aneurysm, familial abdominal, 1 10.1
49 prostate cancer 10.1
50 gastrointestinal ulceration, recurrent, with dysfunctional platelets 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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
3 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
4 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
5 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
6 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
7 abnormal localization of kidney 58 31 hallmark (90%) Very frequent (99-80%) HP:0100542
8 prolonged neonatal jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0006579
9 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
10 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
11 increased serum iron 58 31 hallmark (90%) Very frequent (99-80%) HP:0003452
12 intrauterine growth retardation 31 HP:0001511
13 abnormal bleeding 31 HP:0001892
14 cirrhosis 31 HP:0001394
15 hepatic fibrosis 31 HP:0001395
16 oligohydramnios 31 HP:0001562
17 hepatic failure 31 HP:0001399
18 cholestasis 31 HP:0001396
19 nonimmune hydrops fetalis 31 HP:0001790
20 hepatocellular necrosis 31 HP:0001404

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
intrauterine growth retardation

Abdomen Liver:
cirrhosis
hepatic fibrosis
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

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

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:

40
Liver, Fetal Liver, Heart, Eye, Pancreas, Skin, Testes

Publications for Hemochromatosis, Neonatal

Articles related to Hemochromatosis, Neonatal:

(show top 50) (show all 198)
# Title Authors PMID Year
1
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. 56 61
18474533 2008
2
Neonatal hemochromatosis: a congenital alloimmune hepatitis. 56 61
17682971 2007
3
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. 56 61
9285385 1997
4
Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. 56 61
8213678 1993
5
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. 56 61
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. 56 61
1973598 1990
7
Idiopathic neonatal hemochromatosis in siblings. An inborn error of metabolism. 61 56
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. 56
11546828 2001
9
Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers. 56
8782042 1996
10
Delta 4-3-oxosteroid 5 beta-reductase deficiency causing neonatal liver failure and hemochromatosis. 56
8301429 1994
11
Neonatal haemochromatosis. 56
2258173 1990
12
Repetitive maternal-fetal transmission of fatal hepatitis B. 56
1186838 1975
13
FAMILIAL "GIANT-CELL HEPATITIS" IN INFANCY. CLINICAL, PATHOLOGIC, AND GENETIC STUDIES ON A LARGE FAMILY. 56
14120410 1964
14
A GENETIC STUDY OF NEONATAL OBSTRUCTIVE JAUNDICE. 56
14058813 1963
15
Perinatal idiopathic hemochromatosis: giant cell hepatitis interpreted as an inborn error of metabolism. 56
13822700 1960
16
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. 61
29890876 2020
17
Sub-acute neonatal hemochromatosis in an infant with hypoplastic left heart syndrome on ventricular assist device awaiting transplantation. 61
31407854 2019
18
Liver failure Among Young Saudi Infants: Etiology, Clinical Presentation, and Outcome. 61
31714476 2019
19
Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis. 61
31424295 2019
20
Managing the Unusual Causes of Fetal Anemia. 61
31505487 2019
21
Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience. 61
31081242 2019
22
Neonatal hemochromatosis associated with rupture of esophageal varices. 61
31359540 2019
23
Neonatal hemochromatosis in a newborn with Down syndrome. 61
31215296 2019
24
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 61
30737051 2019
25
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. 61
30149691 2019
26
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. 61
30378124 2019
27
Prenatal imaging features suggestive of liver gestational allo immune disease. 61
30465890 2019
28
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. 61
30464860 2018
29
Broadening the spectrum of neonatal hemochromatosis. 61
30058407 2018
30
The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality. 61
29499991 2018
31
Liver Failure and Conjugated Hyperbilirubinemia in a Preterm Neonate: Role of Early IVIG and Exchange Transfusion. 61
29765787 2018
32
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. 61
29287003 2018
33
Disparate clinical findings in monochorionic twins with neonatal hemochromatosis. 61
29359379 2017
34
Neonatal Hemochromatosis: Blitz Diagnosis Results in Favorable Outcome. 61
28161201 2017
35
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. 61
28085791 2017
36
Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure. 61
28437325 2017
37
Neonatal acute liver failure: a diagnosis challenge. 61
28318185 2017
38
Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review. 61
28251010 2017
39
[Gestational alloimmune liver disease: a case report]. 61
27869421 2016
40
An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis. 61
27871472 2016
41
Fetal Magnetic Resonance Imaging Detection of Liver Iron Deposition in Neonatal Hemochromatosis During Prenatal Therapy. 61
27331656 2016
42
Gestational Alloimmune Liver Disease: A Devastating Condition Preventable With Maternal Intravenous Immunoglobulin. 61
27741190 2016
43
Antenatal immunoglobulin for prevention of neonatal hemochromatosis. 61
27507570 2016
44
Liver Failure, Hepatic Siderosis, and Membrane Attack Complexes: Neonatal Hemochromatosis and/or Galactosemia?: RETRACTED. 61
27403610 2016
45
Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis. 61
27437193 2016
46
Iron Overload Coordinately Promotes Ferritin Expression and Fat Accumulation in Caenorhabditis elegans. 61
27017620 2016
47
[Neonatal hemochromatosis: Another entity that is no longer orphan. Advances in the diagnosis and management of the main cause of neonatal acute liver failure]. 61
25801288 2015
48
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant. 61
26331014 2015
49
Neonatal liver failure owing to gestational alloimmune liver disease without iron overload. 61
24976253 2015
50
Distinguishing primary from secondary Δ(4) -3-oxosteroid 5β-reductase (SRD5B1, AKR1D1) deficiency by urinary steroid analysis. 61
25154774 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....