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)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(44.2%)		 10347280
 Hemophagocytic syndrome presenting as acute hepatic failure in two infants: clinical overlap with neonatal hemochromatosis.
Parizhskaya M, Reyes J, Jaffe R.
Pediatr Dev Pathol. 1999;2(4):360-6.
Hepatosplenomegaly Fever Hemophagocytosis
Antigens, Differentiation, Myelomonocytic CD Antigens Differential Diagnosis Fatal Outcome Females Ferritin Hemochromatosis Histiocytes Histiocytosis, Non-Langerhans-Cell Homo sapiens Infant Infant, Newborn Liver Liver Failure, Acute
2
(38.4%)		 9021008
 Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.
Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, Gosseye S, Rigo J, Sokal E.
Am J Med Genet. 1997;68(4):391-5.
Hypertelorism Jaundice Hepatomegaly Hypermethioninemia
Amino Acid Metabolism, Inborn Errors Diarrhea Face Females Hair Hemochromatosis Homo sapiens Infant Infant, Newborn Liver Lung Male Pregnancy Syndrome
3
(32.2%)		 31081242
 Pediatric liver transplantation for neonatal-onset Niemann-Pick disease type C: Japanese multicenter experience.
Yamada N, Inui A, Sanada Y, Ihara Y, Urahashi T, Fukuda A, Sakamoto S, Kasahara M, Yoshizawa A, Okamoto S, Okajima H, Fujisawa T, Mizuta K.
Pediatr Transplant. 2019;23(5):e13462.
Jaundice Hepatosplenomegaly
Age of Onset Females Homo sapiens Infant Infant, Newborn Japan Male Niemann-Pick Disease, Type C
4
(32.0%)		 29765787
(5951787)
 Liver Failure and Conjugated Hyperbilirubinemia in a Preterm Neonate: Role of Early IVIG and Exchange Transfusion.
Nair J, Kumar VHS.
AJP Rep. 2018;8(2):e95-e98.
Jaundice Conjugated hyperbilirubinemia
4
(32.0%)		 10602969
 Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography.
Oddone M, Bellini C, Bonacci W, Bartocci M, Toma P, Serra G.
Eur Radiol. 1999;9(9):1882-5.
Jaundice Hypoglycemia
Biopsy Blood Flow Velocity Differential Diagnosis Females Hemochromatosis Homo sapiens Infant, Newborn Liver Liver Circulation Magnetic Resonance Imaging Ultrasonography, Doppler, Duplex
4
(32.0%)		 9543801
 [Neonatal hemochromatosis].
Sigurdsson L, Hansen TW.
Tidsskr Nor Laegeforen. 1998;118(6):882-3.
Jaundice Hypoglycemia
Antioxidants Fatal Outcome Females Hemochromatosis Homo sapiens Infant, Newborn Iron Chelating Agents
7
(31.2%)		 19175828
 SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
Ueki I, Kimura A, Chen HL, Yorifuji T, Mori J, Itoh S, Maruyama K, Ishige T, Takei H, Nittono H, Kurosawa T, Kage M, Matsuishi T.
J Gastroenterol Hepatol. 2009;24(5):776-85.
Cholestasis Aciduria
AKR1D1
c|SUB|G|737|A p|SUB|G|223|E p|SUB|R|50|X;RS#:749224036
Autopsy Bile Acids and Salts Cholestasis DNA Mutational Analysis Differential Diagnosis Fatal Outcome Females Heterozygote Homo sapiens Inborn Errors of Metabolism Infant, Newborn Japan Liver Male Mutation Oxidoreductase Phenotype Predictive Value of Tests Taiwan
8
(29.4%)		 30378124
 Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.
Darouich S, Boujelbene N, Amraoui J, Amraoui N, Masmoudi A.
J Clin Ultrasound. 2019;47(1):47-50.
Cholelithiasis Hepatomegaly
Adult Cholelithiasis Females Hemochromatosis Homo sapiens Hydrops Fetalis Pregnancy Stillbirth Ultrasonography, Prenatal
9
(27.8%)		 30465890
 Prenatal imaging features suggestive of liver gestational allo immune disease.
Sciard C, Collardeau-Frachon S, Atallah A, Combourieu D, Massardier J, Heissat S, Gaucherand P, Guibaud L, Massoud M.
J Gynecol Obstet Hum Reprod. 2019;48(1):61-64.
Ascites Splenomegaly
IGFBP1
Adult Fatal Outcome Females Fetal Growth Retardation Hemochromatosis Homo sapiens Infant, Newborn Magnetic Resonance Imaging Pregnancy Pregnancy Complications Ultrasonography, Prenatal
10
(27.5%)		 27437193
(4942314)
 Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis.
Choi SJ, Choi JS, Chun P, Yoo JK, Moon JS, Ko JS, Kim WS, Kang GH, Yi NJ.
Pediatr Gastroenterol Hepatol Nutr. 2016;19(2):147-51.
Ascites Hyperbilirubinemia
        

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