| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 3 (4.0%) |
20059724 |
A reduced segment II/III graft for neonatal liver failure with absence of detectable hepatocytes. A case report and literature review. Alawi K, Mitros FA, Bishop WP, Rayhill S, Wu Y. Pediatr Transplant. 2011;15(3):e60-3. |
| Hepatic failure | ||
| Biopsy Hepatocyte Homo sapiens Icterus Infant, Newborn Liver Liver Failure Living Donors | ||
| 3 (4.0%) |
19887127 |
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckere V, Cnop M, Abramowicz M, Desir J. Eur J Med Genet. 2010;53(1):25-8. |
| Diabetes mellitus | ||
| rs267607013 | ||
| Adult Diabetes Mellitus Fatal Outcome Hemochromatosis Homo sapiens Infant, Newborn Intestinal Atresia Iron Metabolism Disorders Liver Male Syndrome | ||
| 3 (4.0%) |
19458947 |
Neonatal hemochromatosis and patent ductus venosus: clinical course and diagnostic pitfalls. Tsai A, Paltiel HJ, Sena LM, Kim HB, Fishman SJ, Alomari AI. Pediatr Radiol. 2009;39(8):823-7. |
| Hepatic failure | ||
| Diagnostic Imaging Differential Diagnosis Females Hemochromatosis Homo sapiens Infant, Newborn Male | ||
| 3 (4.0%) |
19363327 |
Neonatal hemochromatosis: a case report. Pearson L, Bissinger R, Romero KR. Adv Neonatal Care. 2009;9(2):72-6. |
| Thrombocytopenia | ||
| Adult Antioxidants Differential Diagnosis Females Hemochromatosis Homo sapiens Infant, Newborn Intensive Care Units, Neonatal Liver Failure, Acute Male Pregnancy Pregnancy Complications alpha-Fetoproteins | ||
| 3 (4.0%) |
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 | ||
| 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 | ||
| 3 (4.0%) |
18172830 |
An unusual case of intrauterine symptomatic neonatal liver failure. Keller M, Scholl-Buergi S, Sergi C, Theurl I, Weiss G, Unsinn KM, Trawoger R. Klin Padiatr. 2008;220(1):32-6. |
| Portal hypertension | ||
| HFE | ||
| Age Factors Antioxidants Ascites Biopsy Females Ferritin Fetal Diseases Follow-Up Studies Gestational Age Hemochromatosis Homo sapiens Infant Infant, Newborn Iron Chelating Agents Iron Overload Liver Liver Cirrhosis Liver Failure, Acute Magnetic Resonance Imaging Portal Hypertension Pregnancy Time Factors Ultrasonography, Prenatal | ||
| 3 (4.0%) |
16137172 |
Pathology teach and tell: neonatal hemochromatosis with massive hepatic necrosis. Goyal R, Pattari SK, Kakkar N, Radotra BD, Narang A. Fetal Pediatr Pathol. 2004;23(5-6):345-50. |
| Hepatic necrosis | ||
| Differential Diagnosis Fatal Outcome Hemochromatosis Homo sapiens Infant, Newborn Liver Male Necrosis Pancreas Phenotype | ||
| 3 (4.0%) |
14677054 |
Renal tubular dysgenesis and neonatal hemochromatosis without pulmonary hypoplasia. Morris S, Akima S, Dahlstrom JE, Ellwood D, Kent A, Falk MC. Pediatr Nephrol. 2004;19(3):341-4. |
| Oligohydramnios | ||
| Adult Fatal Outcome Females Hemochromatosis Homo sapiens Infant, Newborn Lung Oligohydramnios Pregnancy | ||
| 3 (4.0%) |
12637219 |
Liver ferritin subunit ratios in neonatal hemochromatosis. Hagar W, Vichinsky EP, Theil EC. Pediatr Hematol Oncol. 2003;20(3):229-35. |
| Intracranial hemorrhage | ||
| Biopsy Fatal Outcome Females Ferritin Hemochromatosis Homo sapiens Infant, Newborn Liver Polyacrylamide Gel Electrophoresis | ||
| 3 (4.0%) |
11813631 |
Neonatal (perinatal) hemochromatosis. Elleder M, Chlumska A, Hadravska S, Pilat D. Cesk Patol. 2001;37(4):146-53. |
| Cirrhosis | ||
| Adult Females Hemochromatosis Homo sapiens Infant, Newborn Liver Male |
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%) |
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 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|