NH
MCID: NNT016
MIFTS: 47

Neonatal Hemochromatosis (NH) malady

Rare diseases, Liver diseases categories
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Summaries for Neonatal Hemochromatosis

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Sources:
43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Neonatal Hemochromatosis, also known as idiopathic neonatal hemochromatosis, is related to hemochromatosis and hepatitis, and has symptoms including blepharophimosis/short palpebral fissures, congenital hepatic fibrosis and stillbirth/neonatal death. 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 pancreas.

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

Description from OMIM:47 231100

Aliases & Classifications for Neonatal Hemochromatosis

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Sources:
65Wikipedia, 43NIH Rare Diseases, 49Orphanet, 47OMIM, 62UMLS, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

neonatal hemochromatosis 65 43 49 47 62
idiopathic neonatal hemochromatosis 65 43
neonatal hepatitis 43 62
giant cell hepatitis, neonatal 65
hemochromatosis, neonatal 65
hemochromatosis neonatal 43
giant cell hepatitis 43
hepatitis neonatal 45
nhc 43
nh 43


External Ids:

OMIM47 231100
MESH via Orphanet36 C536394
ICD10 via Orphanet26 E83.1
SNOMED-CT via Orphanet59 6160004
UMLS via Orphanet63 C0268059

Related Diseases for Neonatal Hemochromatosis

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Sources:
17GeneCards, 18GeneDecks
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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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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

231100

Clinical features from OMIM:

231100

Symptoms:

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

Drugs & Therapeutics for Neonatal Hemochromatosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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Sources:
33MalaCards
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MalaCards organs/tissues related to Neonatal Hemochromatosis:

33
Liver, Fetal liver, Pancreas, Heart, Kidney, Salivary gland

Animal Models for Neonatal Hemochromatosis or affiliated genes

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Publications for Neonatal Hemochromatosis

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Sources:
52PubMed
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Articles related to Neonatal Hemochromatosis:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
Liver Failure, Hepatic Siderosis, And Membrane Attack Complexes: Neonatal Hemochromatosis And/Or Galactosemia? (23783020)
2013
2
Control of iron metabolism--lessons from neonatal hemochromatosis. (22402293)
2012
3
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. (22901025)
2012
4
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. (21247995)
2011
5
Neonatal hemochromatosis: a case report with unique presentation. (21980852)
2011
6
Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: a case report and review of the literature. (22070213)
2011
7
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
8
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. (20639702)
2010
9
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
10
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
11
Living donor liver transplantation for neonatal hemochromatosis using non-anatomically resected segments II and III: a case report. (21092086)
2010
12
Exchange transfusion as a possible therapy for neonatal hemochromatosis. (20386319)
2010
13
Neonatal hemochromatosis: a case report. (19363327)
2009
14
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. (18474533)
2008
15
Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. (18376253)
2008
16
Neonatal hemochromatosis: a congenital alloimmune hepatitis. (17682971)
2007
17
Neonatal hemochromatosis: long-term experience with favorable outcome. (17079579)
2006
18
Magnetic resonance imaging in neonatal hemochromatosis--are we there yet? (17058258)
2006
19
Neonatal hemochromatosis: it's OK to say &quot;NO&quot; to antioxidant-chelator therapy. (16237698)
2005
20
Neonatal hemochromatosis: radiographical and histological signs. (16035090)
2005
21
Disparate clinical presentation of neonatal hemochromatosis in twins. (16291733)
2005
22
Spontaneous recovery in neonatal hemochromatosis. (15519665)
2004
23
Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis. (16137172)
2004
24
Neonatal hemochromatosis. (14562579)
2003
25
Genetic counseling in neonatal hemochromatosis. (11973777)
2002
26
Neonatal hemochromatosis. (11581451)
2001
27
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
28
Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. (10347280)
1999
29
Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. (9443126)
1998
30
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (9021008)
1997
31
Neonatal hemochromatosis. (9336684)
1997
32
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. (9285385)
1997
33
Rapid development of hepatocellular siderosis after liver transplantation for neonatal hemochromatosis. (8958282)
1996
34
Jaundice and bleeding from peripheral intravenous sites in a neonate. Neonatal hemochromatosis (idiopathic neonatal iron-storage disease). (8961885)
1996
35
Neonatal hemochromatosis: a case report. (7565532)
1995
36
Special imaging casebook. Neonatal hemochromatosis. (8558346)
1995
37
Multiple malformations in neonatal hemochromatosis. (8010353)
1994
38
Neonatal hemochromatosis. (8271146)
1993
39
Liver transplantation in newborn liver failure: treatment for neonatal hemochromatosis. (8442045)
1993
40
Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis. (1325409)
1992
41
Neonatal hemochromatosis: report of successful orthotopic liver transplantation. (1432473)
1992
42
Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. (1442881)
1992
43
Neonatal hemochromatosis. (1442317)
1992
44
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. (2260562)
1990
45
Neonatal hemochromatosis. The regulation of transferrin-receptor and ferritin synthesis by iron in cultured fibroblastic-line cells. (2916654)
1989
46
Neonatal hemochromatosis. (3189272)
1988
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Neonatal Hemochromatosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1p002459.3DES, HLA-A
2ursodeoxycholic acid45 24 1111.2HLA-A, F2
3dermatan sulfate459.1DES, F2
4fibrinogen459.1DES, F2
5hyaluronic acid45 249.8DES, F2

GO Terms for genes affiliated with Neonatal Hemochromatosis

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Sources:
16Gene Ontology
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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
  • Antibodies

Sources for Neonatal Hemochromatosis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet