MCID: NNT016
MIFTS: 35

Neonatal Hemochromatosis malady

Categories: Rare diseases, Liver diseases, Metabolic diseases

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, 61The Human Phenotype Ontology
See all MalaCards 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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61


Classifications:



External Ids:

Orphanet51 446
ICD10 via Orphanet28 E83.1
MESH via Orphanet37 C536394
UMLS via Orphanet66 C0268059
UMLS65 C0268059, C0027613

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 nance-horan syndrome and visceral steatosis, and has symptoms including abnormal localization of kidney, aplasia/hypoplasia of the nipples and congenital hepatic fibrosis. An important gene associated with Neonatal Hemochromatosis is SLC25A13 (Solute Carrier Family 25 Member 13), and among its related pathways is Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include liver, kidney and t cells.

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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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 20)
id Description Frequency HPO Source Accession
1 abnormal localization of kidney hallmark (90%) HP:0100542
2 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
3 congenital hepatic fibrosis hallmark (90%) HP:0002612
4 hypoglycemia hallmark (90%) HP:0001943
5 blepharophimosis hallmark (90%) HP:0000581
6 anteverted nares hallmark (90%) HP:0000463
7 micrognathia hallmark (90%) HP:0000347
8 prolonged neonatal jaundice HP:0006579
9 increased serum iron HP:0003452
10 increased serum ferritin HP:0003281
11 hypoglycemia HP:0001943
12 abnormal bleeding HP:0001892
13 nonimmune hydrops fetalis HP:0001790
14 oligohydramnios HP:0001562
15 intrauterine growth retardation HP:0001511
16 hepatocellular necrosis HP:0001404
17 hepatic failure HP:0001399
18 cholestasis HP:0001396
19 hepatic fibrosis HP:0001395
20 cirrhosis HP:0001394

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, T cells, Breast, Endothelial, Lung, Myeloid

Animal Models for Neonatal Hemochromatosis or affiliated genes

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MGI Mouse Phenotypes related to Neonatal Hemochromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Neonatal Hemochromatosis

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Articles related to Neonatal Hemochromatosis:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Diarrhea, Urosepsis and Hemolytic Uremic Syndrome Caused by the Same Heteropathogenic Escherichia Coli Strain. (27195604)
2016
2
Coexpression Pattern Analysis of NPM1-Associated Genes in Chronic Myelogenous Leukemia. (25961029)
2015
3
Contact Dermatitis, Patch Testing, and Allergen Avoidance. (26455061)
2015
4
TGIF governs a feed-forward network that empowers Wnt signaling to drive mammary tumorigenesis. (25873176)
2015
5
Pathological role for exocytotic glutamate release from astrocytes in hepatic encephalopathy. (25342940)
2014
6
Smooth muscle acid sensing ion channel 1: Pathophysiologic implication in hypoxic pulmonary hypertension. (25398716)
2014
7
The expression of Survivin and NF-I_B associated with prognostically worse clinicopathologic variables in hepatocellular carcinoma. (24996542)
2014
8
Plasma Polymer-Coated Contact Lenses for the Culture and Transfer of Corneal Epithelial Cells in the Treatment of Limbal Stem Cell Deficiency. (24328453)
2014
9
Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association. (25324685)
2014
10
Recurrent ALK-negative anaplastic large T-cell lymphoma presenting as necrotizing vasculitis. (23291583)
2013
11
Histology of symptomatic gastroesophageal reflux disease: is it predictive of response to proton pump inhibitors? (22989221)
2013
12
Skin-protective effects of a zinc oxide-functionalized textile and its relevance for atopic dermatitis. (23696710)
2013
13
Identification of a novel HLA-B*40 allele, HLA-B*40:211, in a Chinese individual. (24032728)
2013
14
What is your diagnosis? Gastric dilatation-volvulus (GDV) with secondary peritoneal effusion and splenic congestion or torsion. (22720985)
2012
15
Guillain-BarrAc syndrome as the first manifestation of POEMS syndrome. (22773516)
2012
16
Dystypia without aphasia associated with visuospatial memory impairment in a patient with acute stroke. (21959361)
2012
17
Abdominal ultrasonographic findings in typhoid fever: a comparison between typhoid patients and those with non-typhoidal Salmonella and Campylobacter jejuni enterocolitis. (23082592)
2012
18
Tumor-infiltrating dendritic cells may be used as clinicopathologic prognostic factors in endometrial carcinoma. (22617481)
2012
19
Characterization of Erysipelothrix rhusiopathiae isolates from laying hens and poultry red mites (Dermanyssus gallinae) from an outbreak of erysipelas. (21154061)
2010
20
Primary hepatocellular carcinoma in ectopic liver masquerading as left adrenal carcinoma: a rare occurrence. (21139837)
2010
21
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. (19422439)
2009
22
Ultrastructural modification of the endothelium in placental insufficiency and microangiopathies. (19907761)
2009
23
Giant cell arteritis (temporal arteritis): A report of four cases from north east India. (19893667)
2008
24
Vasoactive intestinal peptide decreases MYCN expression and synergizes with retinoic acid in a human MYCN-amplified neuroblastoma cell line. (18949372)
2008
25
Two breakthroughs in CGD studies]. (17332699)
2007
26
Diffuse Neonatal Hemangiomatosis: report of 5 cases. (17048444)
2006
27
Short exposure to Notch ligand Delta-4 is sufficient to induce T-cell differentiation program and to increase the T cell potential of primary human CD34+ cells. (17157169)
2006
28
Morphology and DNA degeneration during autoschizic cell death in bladder carcinoma T24 cells induced by ascorbate and menadione treatment. (16345077)
2006
29
C-1073 (mifepristone) in the adjunctive treatment of Alzheimer's disease. (15974908)
2005
30
A novel role for GADD45beta as a mediator of MMP-13 gene expression during chondrocyte terminal differentiation. (16144844)
2005
31
Gene amplification and protein expression of EGFR and HER2 by chromogenic in situ hybridisation and immunohistochemistry in atypical adenomatous hyperplasia and adenocarcinoma of the lung. (16189154)
2005
32
Low-molecular weight caldesmon as a potential serum marker for glioma. (15958622)
2005
33
Differential expression of activation-induced cytidine deaminase (AID) in nodular lymphocyte-predominant and classical Hodgkin lymphoma. (15732141)
2005
34
Acute disseminated encephalomyelitis following hepatitis A virus infection. (15033204)
2004
35
Discovering novel phenotype-selective neurotrophic factors to treat neurodegenerative diseases. (14699964)
2004
36
Acromio-humeral distance variation measured by ultrasonography and its association with the outcome of rehabilitation for shoulder impingement syndrome. (15273525)
2004
37
Determination of allergen-specific IgE in patients with atopy or allergy symptoms]. (12970591)
2003
38
Interaction of fibrin(ogen) with the endothelial cell receptor VE-cadherin: mapping of the receptor-binding site in the NH2-terminal portions of the fibrin beta chains. (11900554)
2002
39
A novel in vitro model of early human adult B lymphopoiesis that allows proliferation of pro-B cells and differentiation to mature B lymphocytes. (10995008)
2000
40
Bilateral elastofibroma dorsi. Two case reports. (10332600)
1999
41
Prospective sonographic evaluation of interleukin-2-induced changes in the gallbladder. (9457191)
1998
42
A novel, catecholamine release-inhibitory peptide from chromogranin A: autocrine control of nicotinic cholinergic-stimulated exocytosis. (9327894)
1998
43
Inhibition of receptor binding by high-affinity RNA ligands to vascular endothelial growth factor. (7520755)
1994
44
Genomic organization of HLA-DMA and HLA-DMB. Comparison of the gene organization of all six class II families in the human major histocompatibility complex. (8034636)
1994
45
Epidemiological aspects of outbreaks of food-borne salmonellosis in Scotland between 1980 and 1989. (8219345)
1993
46
Activity of some lysosomal enzymes in peritoneal lymphocytes from patients with terminal renal failure treated by intermittent peritoneal dialysis. (1784945)
1991
47
Vitamin K 2,3-epoxide reductase: the basis for stereoselectivity of 4-hydroxycoumarin anticoagulant activity. (3207986)
1988
48
Eosinophilic fasciitis and pernicious anemia with thyroid antibodies. (7175847)
1982
49
Endocardial fibroelastosis; etiologic and pathogenetic considerations in children. (4418264)
1974
50
Dermatophytic agents of tinea unguium in Iran. (4270580)
1973

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

idSuper pathwaysScoreTop Affiliating Genes
19.4DES, HLA-A

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