NH
MCID: NNT016
MIFTS: 48

Neonatal Hemochromatosis (NH) malady

Rare diseases, Liver diseases, Metabolic diseases categories
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Summaries for Neonatal Hemochromatosis

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NIH Rare Diseases:42 Neonatal hemochromatosis is a disease in which too much iron builds up in the body. 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 day of life.there are a number of other forms of hemochromatosis. to learn more about these other forms click on the disease names listed below: hemochromatosis type 1hemochromatosis type 2hemochromatosis type 3 hemochromatosis type 4 last updated: 11/21/2010

MalaCards based summary: Neonatal Hemochromatosis, also known as idiopathic neonatal hemochromatosis, is related to hemochromatosis and hepatitis, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, blepharophimosis/short palpebral fissures and long/large/bulbous nose. An important gene associated with Neonatal Hemochromatosis is DES (desmin). The compounds p002 and ursodeoxycholic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, fetal liver and heart.

Wikipedia:65 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Description from OMIM:46 231100

Aliases & Classifications for Neonatal Hemochromatosis

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Sources:
65Wikipedia, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 62UMLS, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Neonatal Hemochromatosis, Aliases & Descriptions:

Name: Neonatal Hemochromatosis 65 42 48 46 62
Idiopathic Neonatal Hemochromatosis 65 42
Giant Cell Hepatitis 42 62
Neonatal Hepatitis 42 62
Idiopathic Neonatal Haemochromatosis 62
Giant Cell Hepatitis, Neonatal 65
 
Hemochromatosis, Neonatal 65
Hemochromatosis Neonatal 42
Hepatitis Neonatal 44
Nhc 42
Nh 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Metabolic diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

48
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 231100
MESH via Orphanet35 C536394
ICD10 via Orphanet26 E83.1
UMLS via Orphanet63 C0268059

Related Diseases for Neonatal Hemochromatosis

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



Diseases related to neonatal hemochromatosis

Symptoms for Neonatal Hemochromatosis

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Symptoms by clinical synopsis from OMIM:

231100

Clinical features from OMIM:

231100

Symptoms:

48 (show all 13)
  • micrognathia/retrognathia/micrognathism/retrognathism
  • blepharophimosis/short palpebral fissures
  • long/large/bulbous nose
  • anteverted nares/nostrils
  • hypoplastic/absent nipples
  • congenital hepatic fibrosis
  • hepatitis/icterus/cholestasis
  • storage liver disease
  • ectopic/horseshoe/fused kidneys
  • hypoglycemia
  • metabolic anomalies
  • autosomal recessive inheritance
  • stillbirth/neonatal death

HPO human phenotypes related to Neonatal Hemochromatosis:

(show all 23)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 anteverted nares hallmark (90%) HP:0000463
3 blepharophimosis hallmark (90%) HP:0000581
4 hypoglycemia hallmark (90%) HP:0001943
5 congenital hepatic fibrosis hallmark (90%) HP:0002612
6 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
7 abnormal localization of kidney hallmark (90%) HP:0100542
8 autosomal recessive inheritance HP:0000007
9 cirrhosis HP:0001394
10 hepatic fibrosis HP:0001395
11 cholestasis HP:0001396
12 hepatic failure HP:0001399
13 hepatocellular necrosis HP:0001404
14 intrauterine growth retardation HP:0001511
15 oligohydramnios HP:0001562
16 nonimmune hydrops fetalis HP:0001790
17 abnormal bleeding HP:0001892
18 hypoglycemia HP:0001943
19 increased serum ferritin HP:0003281
20 increased serum iron HP:0003452
21 congenital onset HP:0003577
22 rapidly progressive HP:0003678
23 prolonged neonatal jaundice HP:0006579

Drugs & Therapeutics for Neonatal Hemochromatosis

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Drug clinical trials:

Search ClinicalTrials for Neonatal Hemochromatosis

Search NIH Clinical Center for Neonatal Hemochromatosis

Genetic Tests for Neonatal Hemochromatosis

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Anatomical Context for Neonatal Hemochromatosis

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MalaCards organs/tissues related to Neonatal Hemochromatosis:

32
Liver, Fetal liver, Heart, Pancreas, Kidney, Salivary gland, Spleen

Animal Models for Neonatal Hemochromatosis or affiliated genes

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Publications for Neonatal Hemochromatosis

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Articles related to Neonatal Hemochromatosis:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. (25222808)
2014
2
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
3
Clinical and Imaging Resolution of Neonatal Hemochromatosis following Treatment. (25057417)
2014
4
Harlequin Color Change after Abdominal Paracentesis in a Newborn with Neonatal Hemochromatosis. (25209959)
2014
5
Liver Failure, Hepatic Siderosis, And Membrane Attack Complexes: Neonatal Hemochromatosis And/Or Galactosemia? (23783020)
2013
6
Control of iron metabolism--lessons from neonatal hemochromatosis. (22402293)
2012
7
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. (22901025)
2012
8
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. (21247995)
2011
9
Neonatal hemochromatosis: a case report with unique presentation. (21980852)
2011
10
Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: a case report and review of the literature. (22070213)
2011
11
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
12
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. (20639702)
2010
13
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
14
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
15
Living donor liver transplantation for neonatal hemochromatosis using non-anatomically resected segments II and III: a case report. (21092086)
2010
16
Exchange transfusion as a possible therapy for neonatal hemochromatosis. (20386319)
2010
17
Neonatal hemochromatosis: a case report. (19363327)
2009
18
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. (18474533)
2008
19
Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. (18376253)
2008
20
Neonatal hemochromatosis: a congenital alloimmune hepatitis. (17682971)
2007
21
Neonatal hemochromatosis: long-term experience with favorable outcome. (17079579)
2006
22
Neonatal hemochromatosis: it's OK to say &quot;NO&quot; to antioxidant-chelator therapy. (16237698)
2005
23
Neonatal hemochromatosis: radiographical and histological signs. (16035090)
2005
24
Disparate clinical presentation of neonatal hemochromatosis in twins. (16291733)
2005
25
Spontaneous recovery in neonatal hemochromatosis. (15519665)
2004
26
Neonatal hemochromatosis. (14562579)
2003
27
Genetic counseling in neonatal hemochromatosis. (11973777)
2002
28
Neonatal hemochromatosis. (11581451)
2001
29
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
30
Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. (10347280)
1999
31
Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. (9443126)
1998
32
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (9021008)
1997
33
Neonatal hemochromatosis. (9336684)
1997
34
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. (9285385)
1997
35
Rapid development of hepatocellular siderosis after liver transplantation for neonatal hemochromatosis. (8958282)
1996
36
Neonatal hemochromatosis: a case report. (7565532)
1995
37
Special imaging casebook. Neonatal hemochromatosis. (8558346)
1995
38
Multiple malformations in neonatal hemochromatosis. (8010353)
1994
39
Neonatal hemochromatosis. (8271146)
1993
40
Liver transplantation in newborn liver failure: treatment for neonatal hemochromatosis. (8442045)
1993
41
Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis. (1325409)
1992
42
Neonatal hemochromatosis: report of successful orthotopic liver transplantation. (1432473)
1992
43
Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. (1442881)
1992
44
Neonatal hemochromatosis. (1442317)
1992
45
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. (2260562)
1990
46
Neonatal hemochromatosis. The regulation of transferrin-receptor and ferritin synthesis by iron in cultured fibroblastic-line cells. (2916654)
1989
47
Neonatal hemochromatosis. (3195553)
1988
48
Neonatal hemochromatosis: a case and review of the literature. (3279760)
1988
49
Neonatal hemochromatosis: failure of deferoxamine therapy. (3681586)
1987
50
Neonatal hemochromatosis. (3580564)
1987

Variations for Neonatal Hemochromatosis

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Expression for genes affiliated with Neonatal Hemochromatosis

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Expression patterns in normal tissues for genes affiliated with Neonatal Hemochromatosis

Search GEO for disease gene expression data for Neonatal Hemochromatosis.

Pathways for genes affiliated with Neonatal Hemochromatosis

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Compounds for genes affiliated with Neonatal Hemochromatosis

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Neonatal Hemochromatosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1p002449.3DES, HLA-A
2ursodeoxycholic acid44 24 1111.2HLA-A, F2
3dermatan sulfate449.1DES, F2
4fibrinogen449.1DES, F2
5hyaluronic acid44 249.8DES, F2

GO Terms for genes affiliated with Neonatal Hemochromatosis

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Molecular functions related to Neonatal Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051028.8HLA-A, F2
2protein bindingGO:0055158.0FTL, HLA-A, DES, F2

Products for genes affiliated with Neonatal Hemochromatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Neonatal Hemochromatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet