{"Name":"Neonatal hemochromatosis","DiseaseID__c":"GARD:0007172","id":7172,"encodedName":"neonatal-hemochromatosis","IsDeleted":false,"Disease_Name_Full__c":"Neonatal hemochromatosis","Xref_IDs__c":"6160004; C0268059; C129980; C536394; MEDGEN:82768; MONDO:0009275; OMIM:231100; ORPHA:446","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009275","Disease_Description__c":"Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4","GARD_Name__c":"Neonatal hemochromatosis","GARD_Synonym__c":"alloimmune hepatitis, congenital; idiopathic neonatal hemochromatosis; neonatal hepatitis","Curated_Disease_Description_Source__c":"GARD:0007172","Curated_Disease_Description__c":"Neonatal hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. In this form of hemochromatosis, the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first days of life. Babies with the disease may be born very early (premature) or struggle to grow in the womb (intrauterine growth restriction). Symptoms of Neonatal hemochromatosis may include low blood sugar (hypoglycemia), abnormalities in blood clotting, yellowing of the skin and eyes (jaundice), and swelling (edema). The exact cause of Neonatal hemochromatosis is unknown. It is thought that the disease may be caused by a pregnant woman's immune system recognizing cells of the baby's liver as foreign. If a woman had a baby with Neonatal hemochromatosis, each future child has an 80% chance to have the disease as well. A diagnosis of Neonatal hemochromatosis is suspected when a doctor observes signs and symptoms of hemochromatosis or liver disease in a newborn. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:446","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009275","ORPHANET_ID__c":"ORPHA:446","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemocromatosis neonatal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hemocromatosis neonatal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:57146","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Neonatal hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. In this form of hemochromatosis, the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first days of life. Babies with the disease may be born very early (premature) or struggle to grow in the womb (intrauterine growth restriction). Symptoms of Neonatal hemochromatosis may include low blood sugar (hypoglycemia), abnormalities in blood clotting, yellowing of the skin and eyes (jaundice), and swelling (edema). The exact cause of Neonatal hemochromatosis is unknown. It is thought that the disease may be caused by a pregnant woman's immune system recognizing cells of the baby's liver as foreign. If a woman had a baby with Neonatal hemochromatosis, each future child has an 80% chance to have the disease as well. A diagnosis of Neonatal hemochromatosis is suspected when a doctor observes signs and symptoms of hemochromatosis or liver disease in a newborn. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test.","Curated_Disease_Description_Source__c":"GARD:0007172","GARD_Synonym__c":"alloimmune hepatitis, congenital; idiopathic neonatal hemochromatosis; neonatal hepatitis","Name":"Neonatal hemochromatosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Liver Disease Foundation","Website__c":"https://childliverdisease.org/"},{"Account_Name__c":"Canadian Hemochromatosis Society","Website__c":"https://www.toomuchiron.ca"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:446"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536394","Source__c":"MONDO:0009275","Xref__c":"C536394"},{"URL__c":"https://www.omim.org/entry/231100","Source__c":"C0268059; MONDO:0009275; ORPHA:446","Xref__c":"OMIM:231100"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129980","Source__c":"C0268059; MONDO:0009275","Xref__c":"C129980"},{"URL__c":"https://www.orpha.net/en/disease/detail/446","Source__c":"C0268059; MONDO:0009275; ORPHA:446","Xref__c":"ORPHA:446"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268059","Source__c":"C0268059","Xref__c":"C0268059"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82768","Source__c":"C0268059","Xref__c":"MEDGEN:82768"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009275","Source__c":"GARD:0007172","Xref__c":"MONDO:0009275"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=6160004","Source__c":"C0268059","Xref__c":"6160004"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006579","HPO_Synonym__c":"Neonatal jaundice; Prolonged yellowing of skin in newborn","HPO_Name__c":"Prolonged neonatal jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006709","HPO_Synonym__c":"Absent/rudimentary nipples; Absent/small nipples; Absent/underdeveloped nipples; Nipples absent or rudimentary","HPO_Name__c":"Aplasia/Hypoplasia of the nipples","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003452","HPO_Synonym__c":"Increased serum iron","HPO_Name__c":"Increased circulating iron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of fibrosis of that part of the liver with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002612","HPO_Synonym__c":"Congenital liver fibrosis; Excessive buildup of connective tissue and scarring of liver at birth","HPO_Name__c":"Congenital hepatic fibrosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal site of the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100542","HPO_Synonym__c":"Abnormal localisation of kidneys","HPO_Name__c":"Abnormal localization of kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000448","HPO_Synonym__c":"Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose","HPO_Name__c":"Prominent nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:446","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Gastroenterology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["alloimmune hepatitis, congenital"," idiopathic neonatal hemochromatosis"," neonatal hepatitis"]}