MCID: NNT016
MIFTS: 37

Neonatal Hemochromatosis malady

Rare diseases, Liver diseases, Metabolic diseases categories

Aliases & Classifications for Neonatal Hemochromatosis

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Sources:
68Wikipedia, 45NIH Rare Diseases, 51Orphanet, 65UMLS, 47Novoseek, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Neonatal Hemochromatosis:

Name: Neonatal Hemochromatosis 68 45 51 65
Idiopathic Neonatal Hemochromatosis 68 45
Neonatal Hepatitis 45 65
Giant Cell Hepatitis, Neonatal 68
Hemochromatosis, Neonatal 68
 
Hemochromatosis Neonatal 45
Giant Cell Hepatitis 45
Hepatitis Neonatal 47
Nhc 45
Nh 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet51 446
ICD10 via Orphanet28 E83.1
MESH via Orphanet37 C536394
UMLS via Orphanet66 C0268059

Summaries for Neonatal Hemochromatosis

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NIH Rare Diseases:45 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 liver disease and galactosemia, and has symptoms including micrognathia, anteverted nares and blepharophimosis. An important gene associated with Neonatal Hemochromatosis is SLC25A13 (Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 13). Affiliated tissues include liver, kidney and fetal liver.

Wikipedia:68 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Related Diseases for Neonatal Hemochromatosis

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Diseases related to Neonatal Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1liver disease30.3GGT1, SLC17A5
2galactosemia29.8GGT1, SLC17A5, SLC25A13
3hemochromatosis11.1
4nance-horan syndrome10.6
5hemolytic anemia10.6
6autoimmune hemolytic anemia10.6
7hepatitis10.5
8breast cancer10.4
9siderosis10.4
10biliary atresia10.3
11renal tubular dysgenesis10.3
12hepatitis b10.3
13cataract 40, x-linked10.2
14cataract10.2
15prostatitis10.2
16cataract, total congenital10.2
17endotheliitis10.2
18non-syndromic congenital cataract10.2
19nuclear cataract10.2
20cholestasis-lymphedema syndrome10.2
21autoimmune hepatitis10.2
22hepatitis a10.2
23necrobiotic xanthogranuloma10.2
24hydrops fetalis10.2
25patent ductus venosus10.2
26peritonitis10.1
27plasmacytoma10.1
28epidermolysis bullosa, junctional, non-herlitz type10.1
29leukemia10.1
30neuronitis10.1
31rubella10.1
32cervicitis10.1
33impotence10.1
34learning disability10.1
35pancreatitis10.1
36thyroiditis10.1
37cervical intraepithelial neoplasia10.1
38glioblastoma10.1
39parainfluenza virus type 310.1
40systemic lupus erythematosus10.1
41bile acid synthesis defect, congenital, 410.1
42arthrogryposis, renal dysfunction, and cholestasis 210.1
43arthrogryposis, renal dysfunction, and cholestasis 110.1
44bile acid synthesis defect, congenital, 110.1
45choroiditis10.1
46polyarteritis nodosa10.1
47chickenpox10.1
48lupus erythematosus10.1
49shaken baby syndrome10.1
50mucopolysaccharidosis vii10.1

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:

 51 (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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Research Network for Neonatal Diseases Induced by Tissular Fetomaternal AlloimmunizationRecruitingNCT00199628

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:

33
Liver, Kidney, Fetal liver, 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 101)
idTitleAuthorsYear
1
Liver transplantation for neonatal hemochromatosis: analysis of the UNOS database. (25557040)
2015
2
Liver failure, hepatic siderosis, and membrane attack complexes: neonatal hemochromatosis and/or galactosemia?: Retraction. (25222808)
2014
3
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
4
Clinical and Imaging Resolution of Neonatal Hemochromatosis following Treatment. (25057417)
2014
5
Harlequin Color Change after Abdominal Paracentesis in a Newborn with Neonatal Hemochromatosis. (25209959)
2014
6
Liver Failure, Hepatic Siderosis, And Membrane Attack Complexes: Neonatal Hemochromatosis And/Or Galactosemia? (23783020)
2013
7
Neonatal hemochromatosis. (25755519)
2013
8
Control of iron metabolism--lessons from neonatal hemochromatosis. (22402293)
2012
9
French retrospective multicentric study of neonatal hemochromatosis: importance of autopsy and autoimmune maternal manifestations. (22901025)
2012
10
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review. (21247995)
2011
11
Neonatal hemochromatosis: a case report with unique presentation. (21980852)
2011
12
Prenatal high-dose immunoglobulin treatment for neonatal hemochromatosis: a case report and review of the literature. (22070213)
2011
13
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
14
Neonatal hemochromatosis and exchange transfusion: treating the disorder as an alloimmune disease. (20639702)
2010
15
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
16
Relationship of proximal renal tubular dysgenesis and fetal liver injury in neonatal hemochromatosis. (19809376)
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
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
Abnormal bile acid metabolism and neonatal hemochromatosis: a subset with poor prognosis. (9285385)
1997
34
Rapid development of hepatocellular siderosis after liver transplantation for neonatal hemochromatosis. (8958282)
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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Search GEO for disease gene expression data for Neonatal Hemochromatosis.

Pathways for genes affiliated with Neonatal Hemochromatosis

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GO Terms for genes affiliated with Neonatal Hemochromatosis

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Sources for Neonatal Hemochromatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet