loading...| Preferred Name | Neonatal hemochromatosis | |
| Synonyms |
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| Definitions |
A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_446 |
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| definition |
A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=446 |
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| has_age_of_onset |
Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
MedDRA:10078355 UMLS:C0268059 OMIM:231100 MeSH:C536394 ICD-10:E83.1 ICD-11:5C64.10 |
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| label |
Neonatal hemochromatosis |
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| notation |
ORPHA:446 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506210 |
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| prefixIRI |
ORDO:Orphanet_446 |
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| prefLabel |
Neonatal hemochromatosis |
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| present_in |
Worldwide AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 35.0 (Case) |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506210 |
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| subClassOf |