Neonatal hemochromatosis

General Information (adopted from Orphanet):

Synonyms, Signs: NH
NHC
Giant cell hepatitis, formerly
Neonatal hepatitis, formerly
Alloimmune hepatitis, congenital
Number of Symptoms 110
OrphanetNr: 446
OMIM Id: 231100
ICD-10: E83.1
UMLs: C0268059
MeSH: C536394
MedDRA:
Snomed: 6160004

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000
Inheritance: Autosomal recessive
15747119 [IBIS]
Age of onset: Neonatal
15747119 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of iron metabolism and transport
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease

Comment:

The underlying cause of this iron storage disorder is unknown but it may be associated with an anomaly in placental iron transfer.

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 18585608; 11546828 IBIS 232 / 7739
2
 (HPO:0005343) Hypoplasia of the bladder 18585608 IBIS 4 / 7739
3
 (HPO:0003355) Aminoaciduria 21980852 IBIS 65 / 7739
4
 (HPO:0000091) Abnormality of the renal tubule 25444000 IBIS 15 / 7739
5
 (HPO:0100520) Oliguria 17682971; 19458947 IBIS 14 / 7739
6
 (HPO:0100519) Anuria 11546828; 19458947 IBIS 20 / 7739
7
 (HPO:0000126) Hydronephrosis 18585608 IBIS 119 / 7739
8
 (HPO:0012571) Ureter fissus 18585608 IBIS 1 / 7739
9
 (HPO:0000236) Abnormality of the anterior fontanelle 18585608 IBIS 1 / 7739
10
 (HPO:0000325) Triangular face 18585608 IBIS 91 / 7739
11
 (HPO:0000347) Micrognathia Very frequent [Orphanet] 18585608 IBIS 426 / 7739
12
 (HPO:0010537) Wide cranial sutures 18585608 IBIS 21 / 7739
13
 (HPO:0000573) Retinal hemorrhage 21397814 IBIS 13 / 7739
14
 (HPO:0011505) Cystoid macular edema 21397814 IBIS 8 / 7739
15
 (HPO:0000400) Macrotia 18585608 IBIS 108 / 7739
16
 (HPO:0001250) Seizures 21397814 IBIS 1245 / 7739
17
 (HPO:0001298) Encephalopathy 16035090 IBIS 72 / 7739
18
 (HPO:0001336) Myoclonus 20386319 IBIS 115 / 7739
19
 (HPO:0001276) Hypertonia 16137172 IBIS 317 / 7739
20
 (HPO:0012510) Extra-axial cerebrospinal fluid accumulation 21397814 IBIS 1 / 7739
21
 (HPO:0001254) Lethargy 20090522; 15519665 IBIS 104 / 7739
22
 (HPO:0000737) Irritability 16137172 IBIS 93 / 7739
23
 (HPO:0000846) Adrenal insufficiency 18585608 IBIS 24 / 7739
24
 (HPO:0000857) Neonatal insulin-dependent diabetes mellitus 20662354 IBIS 7 / 7739
25
 (HPO:0001622) Premature birth 17682971 IBIS 100 / 7739
26
 (HPO:0001562) Oligohydramnios 25444000; 11581451; 17682971; 11546828; 21247995 IBIS 75 / 7739
27
 (HPO:0012420) Meconium stained amniotic fluid 21247995; 20386319 IBIS 1 / 7739
28
 (HPO:0001561) Polyhydramnios 11581451 IBIS 191 / 7739
29
 (HPO:0001790) Nonimmune hydrops fetalis 17682971 IBIS 15 / 7739
30
 (HPO:0010949) Abnormality of umbilical vein blood flow 15519665 IBIS 1 / 7739
31
 (HPO:0012498) Nuchal cord 16291733 IBIS 1 / 7739
32
 (HPO:0010881) Abnormality of the umbilical cord 19458947 IBIS 1 / 7739
33
 (HPO:0011414) Hydropic placenta 25444000 IBIS 3 / 7739
34
 (HPO:0001789) Hydrops fetalis 25444000; 21247995; 19458947 IBIS 63 / 7739
35
 (HPO:0001433) Hepatosplenomegaly 16291733 IBIS 78 / 7739
36
 (HPO:0001410) Decreased liver function Very frequent [IBIS] 25444000; 20090522; 16291733 IBIS 59 / 7739
37
 (HPO:0002239) Gastrointestinal hemorrhage 18585608 IBIS 97 / 7739
38
 (HPO:0001399) Hepatic failure Very frequent [IBIS] 25444000; 18585608; 11581451; 11546828; 11546828; 21397814; 19458947; 16035090 IBIS 80 / 7739
39
 (HPO:0002248) Hematemesis 11546828; 19458947 IBIS 12 / 7739
40
 (HPO:0012115) Hepatitis Very frequent [Orphanet] 11546828; 11546828; 16137172 IBIS 24 / 7739
41
 (HPO:0001744) Splenomegaly 11546828; 20386319; 16137172 IBIS 337 / 7739
42
 (HPO:0002605) Hepatic necrosis 25444000 IBIS 6 / 7739
43
 (HPO:0001394) Cirrhosis 25444000; 11546828; 11546828; 19458947; 19458947; 16137172; 15519665 IBIS 102 / 7739
44
 (HPO:0001409) Portal hypertension 19458947 IBIS 39 / 7739
45
 (HPO:0001395) Hepatic fibrosis Very frequent [IBIS] 25444000 IBIS 67 / 7739
46
 (HPO:0000952) Jaundice Very frequent [IBIS] Very frequent [Orphanet] 21980852; 20886352; 18585608; 17682971; 11546828; 21247995; 21092086; 20386319; 19458947; 16291733; 16137172; 16035090; 15519665 IBIS 105 / 7739
47
 (HPO:0006583) Fatal liver failure in infancy 25444000 IBIS 3 / 7739
48
 (HPO:0006574) Hepatic arteriovenous malformation 19458947 IBIS 5 / 7739
49
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 11546828; 11546828; 21980852; 20662354; 20386319; 19458947; 16035090; 15519665 IBIS 136 / 7739
50
 (HPO:0002249) Melena 11546828 IBIS 11 / 7739
51
 (HPO:0002013) Vomiting 20662354 IBIS 191 / 7739
52
 (HPO:0006554) Acute hepatic failure 21980852 IBIS 20 / 7739
53
 (HPO:0002240) Hepatomegaly 11546828; 21247995; 21092086; 20662354; 20386319; 16035090; 15519665 IBIS 467 / 7739
54
 (HPO:0002612) Congenital hepatic fibrosis Very frequent [IBIS] Very frequent [Orphanet] 25444000; 11546828 IBIS 16 / 7739
55
 (HPO:0001397) Hepatic steatosis 19458947 IBIS 75 / 7739
56
 (HPO:0001404) Hepatocellular necrosis 11546828 IBIS 4 / 7739
57
 (HPO:0011954) Nodular regenerative hyperplasia of liver 11546828 IBIS 1 / 7739
58
 (HPO:0003270) Abdominal distention 21092086; 16035090 IBIS 46 / 7739
59
 (HPO:0001541) Ascites 25444000; 11581451; 17682971; 21980852; 21397814; 21247995; 19458947; 16291733; 16137172; 16137172 IBIS 94 / 7739
60
 (HPO:0001511) Intrauterine growth retardation 25444000; 18585608; 11581451; 17682971; 11546828 IBIS 358 / 7739
61
 (HPO:0001518) Small for gestational age 18585608; 11581451 IBIS 107 / 7739
62
 (HPO:0001531) Failure to thrive in infancy 20662354 IBIS 26 / 7739
63
 (HPO:0000967) Petechiae 11546828 IBIS 26 / 7739
64
 (HPO:0001684) Secundum atrial septal defect 21980852 IBIS 14 / 7739
65
 (HPO:0001655) Patent foramen ovale 21397814 IBIS 31 / 7739
66
 (HPO:0001631) Atria septal defect 18585608 IBIS 274 / 7739
67
 (HPO:0002615) Hypotension 18585608; 11546828; 19458947 IBIS 52 / 7739
68
 (HPO:0001649) Tachycardia 21247995 IBIS 53 / 7739
69
 (HPO:0001643) Patent ductus arteriosus 18585608 IBIS 228 / 7739
70
 (HPO:0002408) Cerebral arteriovenous malformation 21397814 IBIS 7 / 7739
71
 (HPO:0005180) Tricuspid regurgitation 19458947 IBIS 20 / 7739
72
 (HPO:0012021) Persistent patent ductus venosus 17682971; 19458947; 16291733; 15519665 IBIS 2 / 7739
73
 (HPO:0002092) Pulmonary hypertension 19458947 IBIS 109 / 7739
74
 (HPO:0001640) Cardiomegaly 19458947 IBIS 81 / 7739
75
 (HPO:0001903) Anemia 18585608; 11581451; 11546828; 21247995; 19458947 IBIS 289 / 7739
76
 (HPO:0005521) Disseminated intravascular coagulation 18585608 IBIS 5 / 7739
77
 (HPO:0008151) Prolonged prothrombin time 20090522; 11546828; 20386319; 16137172 IBIS 13 / 7739
78
 (HPO:0011899) Hyperfibrinogenemia 11581451 IBIS 1 / 7739
79
 (HPO:0010702) Increased antibody level in blood 16137172 IBIS 29 / 7739
80
 (HPO:0003010) Prolonged bleeding time 11546828 IBIS 88 / 7739
81
 (HPO:0001928) Abnormality of coagulation 20886352; 20090522; 11581451; 17682971; 11546828; 21980852; 21397814; 19458947; 19458947; 16137172; 15519665 IBIS 44 / 7739
82
 (HPO:0001873) Thrombocytopenia 18585608; 11581451; 11546828; 21397814; 19458947; 16137172 IBIS 224 / 7739
83
 (HPO:0003281) Increased serum ferritin Very frequent [IBIS] 25444000; 20886352; 20090522; 18585608; 17682971; 21980852; 21397814; 21092086; 20662354; 20386319; 19458947; 16035090 IBIS 32 / 7739
84
 (HPO:0003074) Hyperglycemia 20662354 IBIS 37 / 7739
85
 (HPO:0012465) Elevated hepatic iron concentration Very frequent [IBIS] 25444000; 11546828; 21247995; 21092086; 20662354; 16137172; 15519665 IBIS 8 / 7739
86
 (HPO:0002045) Hypothermia 20090522 IBIS 27 / 7739
87
 (HPO:0012463) Elevated transferrin saturation Very frequent [IBIS] 20886352; 20090522; 17682971; 21980852; 21092086; 20386319; 16035090 IBIS 10 / 7739
88
 (HPO:0003265) Neonatal hyperbilirubinemia 20090522; 18585608; 11581451; 17682971; 21397814; 21247995; 20662354; 19458947; 16137172 IBIS 6 / 7739
89
 (HPO:0003075) Hypoproteinemia 21397814 IBIS 27 / 7739
90
 (HPO:0001943) Hypoglycemia Very frequent [IBIS] Very frequent [Orphanet] 20090522; 11581451; 17682971; 11546828; 21980852; 19458947; 19458947 IBIS 131 / 7739
91
 (HPO:0006254) Elevated alpha-fetoprotein 17682971; 21980852; 21092086; 20386319 IBIS 10 / 7739
92
 (HPO:0003452) Increased serum iron 21092086 IBIS 5 / 7739
93
 (HPO:0003073) Hypoalbuminemia 18585608; 11581451; 17682971; 16137172 IBIS 40 / 7739
94
 (HPO:0011031) Abnormality of iron homeostasis Very frequent [IBIS] 25444000; 21397814; 21247995; 15519665 IBIS 16 / 7739
95
 (HPO:0001942) Metabolic acidosis 18585608; 11546828; 16291733 IBIS 81 / 7739
96
 (HPO:0002155) Hypertriglyceridemia 20662354 IBIS 67 / 7739
97
 (HPO:0000969) Edema 25444000; 17682971; 11546828; 21247995; 20386319; 16035090 IBIS 117 / 7739
98
 (HPO:0002789) Tachypnea 11546828; 21247995; 19458947 IBIS 48 / 7739
99
 (HPO:0002098) Respiratory distress 18585608; 21247995; 19458947; 16137172 IBIS 75 / 7739
100
 (OMIM) Iron deposition in renal tubular cells 25444000 IBIS 1 / 7739
101
 (HPO:0001522) Death in infancy 20662354; 16137172; 15519665 IBIS 275 / 7739
102
 (MedDRA:10022963) Iron binding capacity total decreased 18585608 IBIS 1 / 7739
103
 (HPO:0003811) Neonatal death 18585608; 11546828; 21247995; 19458947 IBIS 44 / 7739
104
 (OMIM) Iron deposition in acinar cells 25444000 IBIS 1 / 7739
105
 (MedDRA:10057870) Head lag 16137172 IBIS 3 / 7739
106
 (OMIM) Myocardial iron deposition 25444000 IBIS 1 / 7739
107
 (OMIM) Giant cell transformation 11546828 IBIS 1 / 7739
108
 (MedDRA:10028154) Multi-organ failure 17682971; 19458947; 15519665 IBIS 3 / 7739
109
 (OMIM) Endocrine glands with iron deposition 25444000 IBIS 1 / 7739
110
 (HPO:0003826) Stillbirth 18585608; 11581451; 11546828 IBIS 40 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). ...
Clinical Description OMIM Knisely et al. (1987) reviewed reported cases of neonatal hemochromatosis, applying rigid criteria as follows: a rapidly progressive clinical course with death in utero or in the early neonatal period; increased tissue iron deposition in multiple sites, particularly ...
Molecular genetics OMIM Hardy et al. (1990) sought evidence for major rearrangements or deletions at the HLA class I region and at 3 loci directly involved in iron metabolism (H- and L-apoferritin and the transferrin receptor) in neonatal hemochromatosis. In 10 ...