MCID: NNT016
MIFTS: 41

Neonatal Hemochromatosis malady

Rare diseases, Liver diseases, Metabolic diseases categories

Summaries for Neonatal Hemochromatosis

About this section


NIH Rare Diseases:41 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, anteverted nares and blepharophimosis. 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, kidney and fetal liver.

Wikipedia:63 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Aliases & Classifications for Neonatal Hemochromatosis

About this section
Sources:
63Wikipedia, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Neonatal Hemochromatosis, Aliases & Descriptions:

Name: Neonatal Hemochromatosis 63 41 47 60
Idiopathic Neonatal Hemochromatosis 63 41
Neonatal Hepatitis 41 60
Giant Cell Hepatitis, Neonatal 63
Hemochromatosis, Neonatal 63
 
Hemochromatosis Neonatal 41
Giant Cell Hepatitis 41
Hepatitis Neonatal 43
Nhc 41
Nh 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


External Ids:

Orphanet47 446
MESH via Orphanet34 C536394
ICD10 via Orphanet26 E83.1
UMLS via Orphanet61 C0268059

Related Diseases for Neonatal Hemochromatosis

About this section

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

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1hemochromatosis31.7FTL, HLA-A
2hepatitis30.6HLA-A, F2
3liver disease30.6F2, FTL
4autoimmune hepatitis30.4HLA-A, F2
5hepatitis b30.1HLA-A, F2
6galactosemia30.1F2, HLA-A
7nance-horan syndrome10.8
8hemolytic anemia10.6
9autoimmune hemolytic anemia10.6
10siderosis10.4
11breast cancer10.4
12cataract 40, x-linked10.3
13cataract, total congenital10.3
14nuclear cataract10.3
15renal tubular dysgenesis10.3
16biliary atresia10.3
17non-syndromic congenital cataract10.3
18cholestasis-lymphedema syndrome10.2
19hepatitis a10.2
20necrobiotic xanthogranuloma10.2
21epidermolysis bullosa, junctional, non-herlitz type10.2
22prostatitis10.2
23endotheliitis10.2
24hydrops fetalis10.2
25patent ductus venosus10.2
26cataract10.2
27bile acid synthesis defect, congenital, 410.1
28arthrogryposis, renal dysfunction, and cholestasis 210.1
29arthrogryposis, renal dysfunction, and cholestasis 110.1
30bile acid synthesis defect, congenital, 110.1
31polyarteritis nodosa10.1
32chickenpox10.1
33choroiditis10.1
34shaken baby syndrome10.1
35citrullinemia10.1
36pick disease10.1
37mucopolysaccharidosis vii10.1
38niemann-pick disease10.1
39cavernous hemangioma10.1
40mucopolysaccharidosis10.1
41leukemia10.1
42rubella10.1
43decubitus ulcer10.1
44neuronitis10.1
45cervicitis10.1
46impotence10.1
47pancreatitis10.1
48scleral staphyloma10.1
49thyroiditis10.1
50cervical intraepithelial neoplasia10.1

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



Diseases related to neonatal hemochromatosis

Symptoms for Neonatal Hemochromatosis

About this section

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Neonatal Hemochromatosis

Search NIH Clinical Center for Neonatal Hemochromatosis

Genetic Tests for Neonatal Hemochromatosis

About this section

Anatomical Context for Neonatal Hemochromatosis

About this section

MalaCards organs/tissues related to Neonatal Hemochromatosis:

31
Liver, Kidney, Fetal liver, Salivary gland, Spleen

Animal Models for Neonatal Hemochromatosis or affiliated genes

About this section

Publications for Neonatal Hemochromatosis

About this section

Articles related to Neonatal Hemochromatosis:

(show top 50)    (show all 99)
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
Living donor liver transplantation for neonatal hemochromatosis using non-anatomically resected segments II and III: a case report. (21092086)
2010
18
Neonatal hemochromatosis: a case report. (19363327)
2009
19
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. (18474533)
2008
20
Regression of severe fibrotic liver disease in 2 children with neonatal hemochromatosis. (18376253)
2008
21
Neonatal hemochromatosis: a congenital alloimmune hepatitis. (17682971)
2007
22
Neonatal hemochromatosis: long-term experience with favorable outcome. (17079579)
2006
23
Neonatal hemochromatosis: it's OK to say &quot;NO&quot; to antioxidant-chelator therapy. (16237698)
2005
24
Neonatal hemochromatosis: radiographical and histological signs. (16035090)
2005
25
Disparate clinical presentation of neonatal hemochromatosis in twins. (16291733)
2005
26
Spontaneous recovery in neonatal hemochromatosis. (15519665)
2004
27
Neonatal hemochromatosis. (14562579)
2003
28
Genetic counseling in neonatal hemochromatosis. (11973777)
2002
29
Neonatal hemochromatosis. (11581451)
2001
30
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
31
Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis. (10347280)
1999
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. (3189272)
1988
48
Neonatal hemochromatosis. (3195553)
1988
49
Neonatal hemochromatosis: failure of deferoxamine therapy. (3681586)
1987
50
Neonatal hemochromatosis. (3580564)
1987

Variations for Neonatal Hemochromatosis

About this section

Expression for genes affiliated with Neonatal Hemochromatosis

About this section
Search GEO for disease gene expression data for Neonatal Hemochromatosis.

Pathways for genes affiliated with Neonatal Hemochromatosis

About this section

Compounds for genes affiliated with Neonatal Hemochromatosis

About this section
Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Neonatal Hemochromatosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1p002439.3DES, HLA-A
2ursodeoxycholic acid43 24 1211.2HLA-A, F2
3dermatan sulfate439.1DES, F2
4fibrinogen439.1DES, F2
5hyaluronic acid43 249.8DES, F2

GO Terms for genes affiliated with Neonatal Hemochromatosis

About this section

Molecular functions related to Neonatal Hemochromatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051028.8HLA-A, F2
2protein bindingGO:00055158.0FTL, HLA-A, DES, F2

Products for genes affiliated with Neonatal Hemochromatosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neonatal Hemochromatosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet