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 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: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, 44Novoseek, 48Orphanet, 46OMIM, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

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)
  • 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:
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
Patent ductus venosus and acute liver failure in the neonate: Consider neonatal hemochromatosis with liver scarring. (24136749)
2014
2
Successful management of neonatal hemochromatosis by exchange transfusion and immunoglobulin: a case report. (23269232)
2013
3
Control of iron metabolism--lessons from neonatal hemochromatosis. (22402293)
2012
4
Glyceroluria and neonatal hemochromatosis. (21886008)
2012
5
Gestational alloimmune liver disease and neonatal hemochromatosis. (23397533)
2012
6
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. (21247995)
2011
7
Neonatal hemochromatosis: a case report with unique presentation. (21980852)
2011
8
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. (21478040)
2011
9
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. (20639702)
2010
10
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
2010
11
Neonatal diabetes due to neonatal hemochromatosis. (21284338)
2010
12
Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. (19560784)
2009
13
Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls. (19458947)
2009
14
Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. (18376253)
2008
15
Neonatal hemochromatosis: a congenital alloimmune hepatitis. (17682971)
2007
16
Is exchange transfusion a possible treatment for neonatal hemochromatosis? (17869371)
2007
17
Medical and surgical treatment of neonatal hemochromatosis: single center experience. (17493216)
2007
18
The treatment conundrum of neonatal hemochromatosis. (17493212)
2007
19
Neonatal hemochromatosis: long-term experience with favorable outcome. (17079579)
2006
20
Neonatal hemochromatosis: it's OK to say &quot;NO&quot; to antioxidant-chelator therapy. (16237698)
2005
21
Neonatal hemochromatosis: radiographical and histological signs. (16035090)
2005
22
Disparate clinical presentation of neonatal hemochromatosis in twins. (16291733)
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
Spontaneous recovery in neonatal hemochromatosis. (15519665)
2004
26
Liver ferritin subunit ratios in neonatal hemochromatosis. (12637219)
2003
27
Neonatal hemochromatosis. (11581451)
2001
28
Neonatal hemochromatosis: the importance of early recognition of liver failure. (10753255)
2000
29
Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. (10347280)
1999
30
Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. (9688768)
1998
31
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. (9021008)
1997
32
Neonatal hemochromatosis. (9336684)
1997
33
Multiple malformations in neonatal hemochromatosis. (8010353)
1994
34
Prenatal diagnosis of idiopathic neonatal hemochromatosis with MRI. (8161905)
1994
35
Delta 4-3-oxosteroid 5 beta-reductase deficiency and neonatal hemochromatosis. (7965448)
1994
36
Neonatal hemochromatosis. (8271146)
1993
37
Liver transplantation in newborn liver failure: treatment for neonatal hemochromatosis. (8442045)
1993
38
Neonatal hemochromatosis associated with maternal autoantibodies against Ro/SS-A and La/SS-B ribonucleoproteins. (8213678)
1993
39
Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. (1442881)
1992
40
Neonatal hemochromatosis. (1442317)
1992
41
Neonatal hemochromatosis: diagnosis with MR imaging. (1503038)
1992
42
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30-year follow-up. (2260562)
1990
43
Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. (2110917)
1990
44
Neonatal hemochromatosis. Genetic analysis of transferrin-receptor, H-apoferritin, and L-apoferritin loci and of the human leukocyte antigen class I region. (1973598)
1990
45
Neonatal hemochromatosis. The regulation of transferrin-receptor and ferritin synthesis by iron in cultured fibroblastic-line cells. (2916654)
1989
46
Cytoferrin, maternofetal iron transport, and neonatal hemochromatosis. (2589245)
1989
47
Neonatal hemochromatosis. (3189272)
1988
48
Neonatal hemochromatosis. (3195553)
1988
49
Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: an approach to biopsy diagnosis. (3183847)
1988
50
Neonatal hemochromatosis. (3580564)
1987

Genetic Variations for Neonatal Hemochromatosis

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Expression for genes affiliated with Neonatal Hemochromatosis

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Sources:
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