MCID: HMC038
MIFTS: 27

Hemochromatosis, Neonatal malady

Categories: Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hemochromatosis, Neonatal

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hemochromatosis, Neonatal:

Name: Hemochromatosis, Neonatal 50
Neonatal Hemochromatosis 46 52 66
Giant Cell Hepatitis 46 25
Neonatal Hepatitis 46 66
Idiopathic Neonatal Hemochromatosis 46
 
Hemochromatosis Neonatal 46
Hepatitis Neonatal 48
Nhc 46
Nh 46

Characteristics:

Orphanet epidemiological data:

52
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

62
hemochromatosis, neonatal:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, rapidly progressive


Classifications:



External Ids:

OMIM50 231100
Orphanet52 ORPHA446
ICD10 via Orphanet29 E83.1
MESH via Orphanet38 C536394
UMLS via Orphanet67 C0268059

Summaries for Hemochromatosis, Neonatal

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OMIM:50 Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the... (231100) more...

MalaCards based summary: Hemochromatosis, Neonatal, also known as neonatal hemochromatosis, is related to nance-horan syndrome and epidermolysis bullosa, junctional, non-herlitz type, and has symptoms including micrognathia, anteverted nares and blepharophimosis. Affiliated tissues include liver, fetal liver and pancreas.

NIH Rare Diseases:46 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

Related Diseases for Hemochromatosis, Neonatal

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



Diseases related to hemochromatosis, neonatal

Symptoms for Hemochromatosis, Neonatal

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Symptoms by clinical synopsis from OMIM:

231100

Clinical features from OMIM:

231100

Symptoms:

 52 (show all 11)
  • micrognathia
  • prominent nose
  • anteverted nares
  • blepharophimosis
  • hypoglycemia
  • congenital hepatic fibrosis
  • increased serum ferritin
  • increased serum iron
  • prolonged neonatal jaundice
  • aplasia/hypoplasia of the nipples
  • abnormal localization of kidney

HPO human phenotypes related to Hemochromatosis, Neonatal:

(show all 20)
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 cirrhosis HP:0001394
9 hepatic fibrosis HP:0001395
10 cholestasis HP:0001396
11 hepatic failure HP:0001399
12 hepatocellular necrosis HP:0001404
13 intrauterine growth retardation HP:0001511
14 oligohydramnios HP:0001562
15 nonimmune hydrops fetalis HP:0001790
16 abnormal bleeding HP:0001892
17 hypoglycemia HP:0001943
18 increased serum ferritin HP:0003281
19 increased serum iron HP:0003452
20 prolonged neonatal jaundice HP:0006579

UMLS symptoms related to Hemochromatosis, Neonatal:


neonatal hepatomegaly

Drugs & Therapeutics for Hemochromatosis, Neonatal

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Interventional clinical trials:

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

Search NIH Clinical Center for Hemochromatosis, Neonatal

Genetic Tests for Hemochromatosis, Neonatal

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Genetic tests related to Hemochromatosis, Neonatal:

id Genetic test Affiliating Genes
1 Giant Cell Hepatitis25

Anatomical Context for Hemochromatosis, Neonatal

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MalaCards organs/tissues related to Hemochromatosis, Neonatal:

34
Liver, Fetal liver, Pancreas, Heart, Kidney

Animal Models for Hemochromatosis, Neonatal or affiliated genes

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Publications for Hemochromatosis, Neonatal

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Variations for Hemochromatosis, Neonatal

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Expression for genes affiliated with Hemochromatosis, Neonatal

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Search GEO for disease gene expression data for Hemochromatosis, Neonatal.

Pathways for genes affiliated with Hemochromatosis, Neonatal

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GO Terms for genes affiliated with Hemochromatosis, Neonatal

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Sources for Hemochromatosis, Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet