NH
MCID: HMC038
MIFTS: 29

Hemochromatosis, Neonatal (NH) malady

Categories: Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hemochromatosis, Neonatal

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Sources:
31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemochromatosis, Neonatal:

Name: Hemochromatosis, Neonatal 52
Neonatal Hemochromatosis 48 54 68
Idiopathic Neonatal Hemochromatosis 48
 
Hemochromatosis Neonatal 48
Nhc 48
Nh 48

Characteristics:

Orphanet epidemiological data:

54
neonatal hemochromatosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

HPO:

64
hemochromatosis, neonatal:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, rapidly progressive

Classifications:



External Ids:

OMIM52 231100
Orphanet54 ORPHA446
MESH via Orphanet40 C536394
UMLS via Orphanet69 C0268059
ICD10 via Orphanet31 E83.1

Summaries for Hemochromatosis, Neonatal

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OMIM:52 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 Array, Array and Array. 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:48 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:71 Neonatal Hemochromatosis is a rare and severe liver disease of unknown origin, though research suggests... more...

Related Diseases for Hemochromatosis, Neonatal

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

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1nance-horan syndrome11.7
2epidermolysis bullosa, junctional, non-herlitz type11.2
3hemochromatosis, type 410.9
4hemochromatosis, type 310.9
5hemochromatosis type 210.9
6cataract 40, x-linked10.8
7serine deficiency10.8
8localized junctional epidermolysis bullosa, non-herlitz type10.8
9hemochromatosis10.1
10gastrointestinal adenoma10.0GGT1, SLC25A13
11heart aneurysm10.0GGT1, SLC25A13
12breast cancer10.0
13qazi markouizos syndrome10.0GGT1, SLC25A13
14eclampsia9.9GGT1, SLC25A13
15alopecia9.9GGT1, SLC17A5
16not otherwise specified 3-mga-uria type9.9SLC17A5, SLC25A13
17noninfectious dermatoses of eyelid9.9GGT1, SLC17A5
18congenital hypoplastic anemia9.9SLC17A5, SLC25A13
19melioidosis9.9
20lymphoblastic lymphoma9.8GGT1, SLC17A5
21preeclampsia/eclampsia 59.8GGT1, SLC17A5
22cataract9.8
23prostatitis9.8
24endotheliitis9.8
25plasmacytoma9.8
26peritonitis9.8
27hereditary spastic paraplegia9.8GGT1, SLC17A5
28hereditary hemorrhagic telangiectasia9.7GGT1, SLC17A5
29ebstein anomaly9.7GGT1, SLC17A5, SLC25A13
30paranasal sinus sarcoma9.7GGT1, SLC17A5, SLC25A13
31chronic rheumatic pericarditis9.7GGT1, SLC17A5, SLC25A13
32lymphoid leukemia9.7GGT1, SLC17A5, SLC25A13
33leukemia9.7
34lymphoma9.7
35impotence9.7
36cervicitis9.7
37pancreatitis9.7
38thyroiditis9.7
39neuronitis9.7
40rubella9.7
41learning disability9.7
42cervical intraepithelial neoplasia9.7
43glioblastoma9.7
44parainfluenza virus type 39.7
45hiv-19.5
46prostate cancer9.5
47cystic fibrosis9.5
48multiple myeloma9.5
49pancreatic cancer9.5
50androgen insensitivity9.5

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



Diseases related to hemochromatosis, neonatal

Symptoms & Phenotypes for Hemochromatosis, Neonatal

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Symptoms by clinical synopsis from OMIM:

231100

Clinical features from OMIM:

231100

Human phenotypes related to Hemochromatosis, Neonatal:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia64 54 Very frequent (99-80%) HP:0000347
2 prominent nose64 54 Very frequent (99-80%) HP:0000448
3 anteverted nares64 54 Very frequent (99-80%) HP:0000463
4 blepharophimosis64 54 Very frequent (99-80%) HP:0000581
5 hypoglycemia64 54 Very frequent (99-80%) HP:0001943
6 congenital hepatic fibrosis64 54 Very frequent (99-80%) HP:0002612
7 increased serum ferritin64 54 Very frequent (99-80%) HP:0003281
8 increased serum iron64 54 Very frequent (99-80%) HP:0003452
9 prolonged neonatal jaundice64 54 Very frequent (99-80%) HP:0006579
10 aplasia/hypoplasia of the nipples64 54 Very frequent (99-80%) HP:0006709
11 abnormal localization of kidney64 54 Very frequent (99-80%) HP:0100542
12 cirrhosis64 HP:0001394
13 hepatic fibrosis64 HP:0001395
14 cholestasis64 HP:0001396
15 hepatic failure64 HP:0001399
16 hepatocellular necrosis64 HP:0001404
17 intrauterine growth retardation64 HP:0001511
18 oligohydramnios64 HP:0001562
19 nonimmune hydrops fetalis64 HP:0001790
20 abnormal bleeding64 HP:0001892

Drugs & Therapeutics for Hemochromatosis, Neonatal

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Drugs for Hemochromatosis, Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
2Liver Extracts4067
3Hematinics1684
4
Bilirubin116635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin

Interventional clinical trials:

idNameStatusNCT IDPhase
1Research Network for Neonatal Diseases Induced by Tissular Fetomaternal AlloimmunizationUnknown statusNCT00199628
2China Registry for Genetic / Metabolic Liver DiseasesRecruitingNCT03131427

Search NIH Clinical Center for Hemochromatosis, Neonatal

Genetic Tests for Hemochromatosis, Neonatal

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Anatomical Context for Hemochromatosis, Neonatal

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MalaCards organs/tissues related to Hemochromatosis, Neonatal:

36
Liver, Fetal liver, Pancreas, Heart, Kidney

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet