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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 51 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(21.2%)
3279760
Neonatal hemochromatosis: a case and review of the literature.
Adams PC, Searle J.
Am J Gastroenterol. 1988;83(4):422-5.
Hypogonadism Arthropathy
Hemochromatosis Homo sapiens Infant, Newborn Male
2
(17.5%)
18078099
[Case report of anesthetic management for an infant with tricho-hepato-entric syndrome].
Yoshimura E, Kagawa T, Suzuki T.
Masui. 2007;56(12):1417-8.
Inguinal hernia
Child, Preschool Diarrhea Females General Anesthesia Hair Hemochromatosis Hernia, Inguinal Homo sapiens Nerve Block Pain, Postoperative Perioperative Care Syndrome
3
(4.0%)
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
Age of Onset Females Homo sapiens Infant Infant, Newborn Japan Male Niemann-Pick Disease, Type C
3
(4.0%)
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
IGFBP1
Adult Fatal Outcome Females Fetal Growth Retardation Hemochromatosis Homo sapiens Infant, Newborn Magnetic Resonance Imaging Pregnancy Pregnancy Complications Ultrasonography, Prenatal
3
(4.0%)
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
Adult Cholelithiasis Females Hemochromatosis Homo sapiens Hydrops Fetalis Pregnancy Stillbirth Ultrasonography, Prenatal
3
(4.0%)
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
3
(4.0%)
28251010
(5303837)
Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review.
Roos Mariano da Rocha C, Rostirola Guedes R, Kieling CO, Rossato Adami M, Cerski CT, Goncalves Vieira SM.
Case Rep Pediatr. 2017;2017:7432859.
Cirrhosis
3
(4.0%)
27741190
Gestational Alloimmune Liver Disease: A Devastating Condition Preventable With Maternal Intravenous Immunoglobulin.
Anastasio HB, Grundy M, Birsner ML, Blakemore KJ.
Obstet Gynecol. 2016;128(5):1092-1094.
Oligohydramnios
Adult Females Fetal Diseases Hemochromatosis Homo sapiens Pregnancy
3
(4.0%)
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
3
(4.0%)
26836824
Neonatal hemochromatosis in monochorionic twins.
Korkmaz L, Bastug O, Daar G, Doganay S, Deniz K, Kurtoglu S.
J Neonatal Perinatal Med. 2015;8(4):413-6.
Sepsis
AFP
Antioxidants Chelating Agents Delayed Diagnosis Differential Diagnosis Fatal Outcome Females Hemochromatosis Homo sapiens Infant, Newborn Sepsis
        

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