Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.



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Narrow down the case reports



Total: 51 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
3
(4.0%)		 1325409
 Cytomegalovirus infection, fetal liver disease, and neonatal hemochromatosis.
Kershisnik MM, Knisely AS, Sun CC, Andrews JM, Wittwer CT.
Hum Pathol. 1992;23(9):1075-80.
Hepatitis
Adult Amino Acid Sequence Cytomegalovirus Cytomegalovirus Infections Females Fetal Diseases Genes, Viral Hemochromatosis Homo sapiens Infant, Newborn Liver Molecular Sequence Data Polymerase Chain Reaction Pregnancy Pregnancy Complications, Infectious Thyroid Gland
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000448 Prominent nose Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0001943 Hypoglycemia Very frequent (99-80%)
HP:0002612 Congenital hepatic fibrosis Very frequent (99-80%)
HP:0003281 Increased serum ferritin Very frequent (99-80%)
HP:0003452 Increased serum iron Very frequent (99-80%)
HP:0006579 Prolonged neonatal jaundice Very frequent (99-80%)
HP:0006709 Aplasia/Hypoplasia of the nipples Very frequent (99-80%)
HP:0100542 Abnormal localization of kidney Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 14

HPO ID Term # of case reports
HP:0001399 Hepatic failure 4
HP:0001394 Cirrhosis 3
HP:0001396 Cholestasis 2
HP:0002041 Intractable diarrhea 2
HP:0000952 Jaundice 1
HP:0000969 Edema 1
HP:0001873 Thrombocytopenia 1
HP:0001903 Anemia 1
HP:0002089 Pulmonary hypoplasia 1
HP:0002240 Hepatomegaly 1
HP:0002605 Hepatic necrosis 1
HP:0002904 Hyperbilirubinemia 1
HP:0006562 Viral hepatitis 1
HP:0100806 Sepsis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID