MCID: HMC038
MIFTS: 27

Hemochromatosis, Neonatal malady

Categories: Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hemochromatosis, Neonatal

About this section
Sources:
30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemochromatosis, Neonatal:

Name: Hemochromatosis, Neonatal 51
Neonatal Hemochromatosis 47 53 67
Idiopathic Neonatal Hemochromatosis 47
 
Hemochromatosis Neonatal 47
Nhc 47
Nh 47

Characteristics:

Orphanet epidemiological data:

53
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

63
hemochromatosis, neonatal:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, rapidly progressive

Classifications:



External Ids:

OMIM51 231100
Orphanet53 ORPHA446
MESH via Orphanet39 C536394
UMLS via Orphanet68 C0268059
ICD10 via Orphanet30 E83.1

Summaries for Hemochromatosis, Neonatal

About this section
OMIM:51 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. An important gene associated with Hemochromatosis, Neonatal is SLC25A13 (Solute Carrier Family 25 Member 13). Affiliated tissues include liver, fetal liver and pancreas.

NIH Rare Diseases:47 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

Wikipedia:70 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Related Diseases for Hemochromatosis, Neonatal

About this section

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



Diseases related to hemochromatosis, neonatal

Symptoms for Hemochromatosis, Neonatal

About this section

Symptoms by clinical synopsis from OMIM:

231100

Clinical features from OMIM:

231100

Human phenotypes related to Hemochromatosis, Neonatal:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
2 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
3 blepharophimosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000581
4 hypoglycemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001943
5 congenital hepatic fibrosis63 53 hallmark (90%) Very frequent (99-80%) HP:0002612
6 aplasia/hypoplasia of the nipples63 53 hallmark (90%) Very frequent (99-80%) HP:0006709
7 abnormal localization of kidney63 53 hallmark (90%) Very frequent (99-80%) HP:0100542
8 cirrhosis63 HP:0001394
9 hepatic fibrosis63 HP:0001395
10 cholestasis63 HP:0001396
11 hepatic failure63 HP:0001399
12 hepatocellular necrosis63 HP:0001404
13 intrauterine growth retardation63 HP:0001511
14 oligohydramnios63 HP:0001562
15 nonimmune hydrops fetalis63 HP:0001790
16 abnormal bleeding63 HP:0001892
17 increased serum ferritin63 53 Very frequent (99-80%) HP:0003281
18 increased serum iron63 53 Very frequent (99-80%) HP:0003452
19 prolonged neonatal jaundice63 53 Very frequent (99-80%) HP:0006579
20 prominent nose53 Very frequent (99-80%)

Drugs & Therapeutics for Hemochromatosis, Neonatal

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Research Network for Neonatal Diseases Induced by Tissular Fetomaternal AlloimmunizationUnknown statusNCT00199628

Search NIH Clinical Center for Hemochromatosis, Neonatal

Genetic Tests for Hemochromatosis, Neonatal

About this section

Anatomical Context for Hemochromatosis, Neonatal

About this section

MalaCards organs/tissues related to Hemochromatosis, Neonatal:

35
Liver, Fetal liver, Pancreas, Heart, Kidney

Animal Models for Hemochromatosis, Neonatal or affiliated genes

About this section

Publications for Hemochromatosis, Neonatal

About this section

Variations for Hemochromatosis, Neonatal

About this section

Expression for genes affiliated with Hemochromatosis, Neonatal

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

Pathways for genes affiliated with Hemochromatosis, Neonatal

About this section

GO Terms for genes affiliated with Hemochromatosis, Neonatal

About this section

Sources for Hemochromatosis, Neonatal

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet