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)
3
(4.0%)
26331014
(4551327)
Successful treatment of hemochromatosis with renal tubular dysgenesis in a preterm infant.
Koura U, Horikawa S, Okabe M, Kawasaki Y, Makimoto M, Mizuta K, Yoshida T.
Clin Case Rep. 2015;3(8):690-3.
Jaundice
3
(4.0%)
25209959
Harlequin color change after abdominal paracentesis in a newborn with neonatal hemochromatosis.
Cizmeci MN, Alagoz D, Avsar MI, Alis G, Tutanc M.
Pediatr Dermatol. 2014;31(6):e114-5.
Pallor
Abdomen Congenital Nonbullous Ichthyosiform Erythroderma Erythema Females Gestational Age Hemochromatosis Homo sapiens Hydrops Fetalis Infant, Newborn Male Pallor Paracentesis Young Adult
3
(4.0%)
24456940
(3905920)
De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.
Schwaibold EM, Bartels I, Kuster H, Lorenz M, Burfeind P, Adam R, Zoll B.
Mol Cytogenet. 2014;7(1):7.
Growth delay
3
(4.0%)
22392171
Neonatal liver cirrhosis without iron overload caused by gestational alloimmune liver disease.
Debray FG, de Halleux V, Guidi O, Detrembleur N, Gaillez S, Rausin L, Goyens P, Pan X, Whitington PF.
Pediatrics. 2012;129(4):e1076-9.
Cirrhosis
Autoimmune Diseases Biopsy Differential Diagnosis Females Follow-Up Studies Hepatomegaly Homo sapiens Liver Liver Cirrhosis Pregnancy Pregnancy Complications Ultrasonography, Prenatal
3
(4.0%)
21980852
Neonatal hemochromatosis: a case report with unique presentation.
Cakir M, Mutlu M, Aydin-Mungan S, Cansu A, Aslan Y, Erduran E.
Turk J Pediatr. 2011;53(4):455-9.
Hypertyrosinemia
Combined Modality Therapy Differential Diagnosis Galactosemias Hemochromatosis Homo sapiens Infant, Newborn Male
3
(4.0%)
21397814
(3059895)
Reversible retinal edema in an infant with neonatal hemochromatosis and liver failure.
Maldonado RS, Freedman SF, Cotten CM, Ferranti JM, Toth CA.
J AAPOS. 2011;15(1):91-3.
Edema
Functional Laterality Hemochromatosis Homo sapiens Infant, Newborn Liver Failure Male Retinal Hemorrhage Tomography, Optical Coherence
3
(4.0%)
21247995
Therapeutic management of neonatal hemochromatosis: report of four cases and literature review.
Annagur A, Altunhan H, Yuksekkaya HA, Ors R.
Hum Exp Toxicol. 2011;30(10):1728-34.
Pulmonary hemorrhage
Antioxidants Females Hemochromatosis Homo sapiens Infant, Newborn Siderophores
3
(4.0%)
20662354
A case report of neonatal diabetes due to neonatal hemochromatosis.
Cetinkaya S, Kunak B, Kara C, Demirceken F, Yarali N, Polat E, Aycan Z.
J Pediatr Endocrinol Metab. 2010;23(5):521-4.
Cholestasis
INS
Diabetes Mellitus, Insulin-Dependent Fatal Outcome Females Hemochromatosis Homo sapiens Hypoglycemic Agents Infant Infant, Newborn Insulin
3
(4.0%)
20482801
(2890540)
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report.
Neil E, Cortez J, Joshi A, Bawle EV, Poulik J, Zilberman M, El-Baba MF, Sood BG.
Ital J Pediatr. 2010;36:38.
Hypertension
Adult Biopsy Differential Diagnosis Down Syndrome Echocardiography, Doppler, Color Fatal Outcome Females Follow-Up Studies Hemochromatosis Homo sapiens Infant, Newborn Liver Failure Magnetic Resonance Imaging
3
(4.0%)
20073397
[Neonatal hemochromatosis: a neonate alloimmune disease].
Tzur T, Sheiner E, Wiz'netzer A.
Harefuah. 2009;148(10):694-7, 734.
Spontaneous abortion
Adult Antioxidants Females Fetal Death Hemochromatosis Homo sapiens Infant, Newborn Phenotype Pregnancy
        

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