NH
MCID: NNT016
MIFTS: 44

Neonatal Hemochromatosis (NH) malady

Liver diseases, Metabolic diseases categories

Summaries for Neonatal Hemochromatosis

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Sources:
42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Neonatal Hemochromatosis, also known as idiopathic neonatal hemochromatosis, is related to hemochromatosis and autoimmune hepatitis, and has symptoms including stillbirth/neonatal death, autosomal recessive inheritance and metabolic anomalies. 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:63 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:
63Wikipedia, 42NIH Rare Diseases, 48Orphanet, 46OMIM, 60UMLS, 44Novoseek, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

neonatal hemochromatosis 63 42 48 46 60
idiopathic neonatal hemochromatosis 63 42
neonatal hepatitis 42 60
giant cell hepatitis, neonatal 63
hemochromatosis, neonatal 63
hemochromatosis neonatal 42
giant cell hepatitis 42
hepatitis neonatal 44
nh 42


External Ids:

OMIM46 231100
MESH via Orphanet35 C536394
ICD10 via Orphanet26 E83.1
SNOMED-CT via Orphanet57 6160004
UMLS via Orphanet61 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

Clinical Features for Neonatal Hemochromatosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

231100

Clinical synopsis from OMIM:

231100

Symptoms:

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

Drugs & Therapeutics for Neonatal Hemochromatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Neonatal Hemochromatosis

Drug clinical trials:

Search ClinicalTrials for Neonatal Hemochromatosis

Search NIH Clinical Center for Neonatal Hemochromatosis

Search CenterWatch for Neonatal Hemochromatosis

Genetic Tests for Neonatal Hemochromatosis

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Anatomical Context for Neonatal Hemochromatosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Neonatal Hemochromatosis:

32
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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50PubMed
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Articles related to Neonatal Hemochromatosis:

(show top 50)    (show all 95)
idTitleAuthorsYear
1
Control of iron metabolism--lessons from neonatal hemochromatosis. (22402293)
2012
2
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. (21247995)
2011
3
Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: a case report and review of the literature. (22070213)
2011
4
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. (21478040)
2011
5
Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure. (21397814)
2011
6
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
7
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. (20639702)
2010
8
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
9
Exchange transfusion as a possible therapy for neonatal hemochromatosis. (20386319)
2010
10
A case report of neonatal diabetes due to neonatal hemochromatosis. (20662354)
2010
11
Neonatal diabetes due to neonatal hemochromatosis. (21284338)
2010
12
Neonatal hemochromatosis: a case report. (19363327)
2009
13
Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. (19560784)
2009
14
Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls. (19458947)
2009
15
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. (18474533)
2008
16
Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. (18376253)
2008
17
Labial salivary gland involvement in neonatal hemochromatosis: a report of 2 cases and review of literature. (18585608)
2008
18
Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain). (16520984)
2006
19
Magnetic resonance imaging in neonatal hemochromatosis--are we there yet? (17058258)
2006
20
Neonatal hemochromatosis: it's OK to say &quot;NO&quot; to antioxidant-chelator therapy. (16237698)
2005
21
Disparate clinical presentation of neonatal hemochromatosis in twins. (16291733)
2005
22
Neonatal hemochromatosis--medical treatment vs. transplantation: the king's experience. (16237701)
2005
23
Neonatal hemochromatosis: fetal liver disease leading to liver failure in the fetus and newborn. (16176424)
2005
24
A case of neonatal hemochromatosis-like liver failure with spontaneous remission. (15735497)
2005
25
Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis. (16137172)
2004
26
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. (14677054)
2004
27
Neonatal hemochromatosis. (11581451)
2001
28
Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents. (11960577)
2001
29
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
30
Neonatal hemochromatosis: the importance of early recognition of liver failure. (10753255)
2000
31
Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography. (10602969)
1999
32
Neonatal hemochromatosis: outcomes of pharmacologic and surgical therapies. (9443126)
1998
33
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. (9688768)
1998
34
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (9021008)
1997
35
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. (9285385)
1997
36
Rapid development of hepatocellular siderosis after liver transplantation for neonatal hemochromatosis. (8958282)
1996
37
Jaundice and bleeding from peripheral intravenous sites in a neonate. Neonatal hemochromatosis (idiopathic neonatal iron-storage disease). (8961885)
1996
38
Neonatal hemochromatosis: an unusual presentation of iron storage disease. (8810136)
1996
39
Neonatal hemochromatosis: a case report. (7565532)
1995
40
Special imaging casebook. Neonatal hemochromatosis. (8558346)
1995
41
Multiple malformations in neonatal hemochromatosis. (8010353)
1994
42
Neonatal hemochromatosis. (8271146)
1993
43
Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. (8213678)
1993
44
Neonatal hemochromatosis: a rare cause of nonimmune hydrops fetalis and fetal anemia. (8260082)
1993
45
Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis. (1325409)
1992
46
Neonatal hemochromatosis: report of successful orthotopic liver transplantation. (1432473)
1992
47
Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. (1442881)
1992
48
Interesting case presentation: neonatal hemochromatosis as a cause of ascites. (2358912)
1990
49
Familial neonatal hemochromatosis with survival. (3335984)
1988
50
Neonatal hemochromatosis: failure of deferoxamine therapy. (3681586)
1987

Genetic Variations for Neonatal Hemochromatosis

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Expression for genes affiliated with Neonatal Hemochromatosis

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1BioGPS, 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:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Neonatal Hemochromatosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1p002449.1DES, HLA-A
2ursodeoxycholic acid44 11 2411.1F2, HLA-A
3hyaluronic acid44 2410.1F2, DES
4dermatan sulfate449.0F2, DES

GO Terms for genes affiliated with Neonatal Hemochromatosis

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Products for genes affiliated with Neonatal Hemochromatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet