Neonatal hemochromatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neonatal hemochromatosis | |
| fr | Hémochromatose néonatale | |
| de | Hämochromatose, neonatale | |
| es | Hemocromatosis neonatal | |
| it | Emocromatosi neonatale | |
| nl | Neonatale hemochromatose | Neonatale ijzerstapelingsziekte |
| pt | Hemocromatose neonatal | |
| pl | Hemochromatoza noworodkowa | |
| cs | Neonatální hemochromatóza | NH |
| uk | Неонатальний гемохроматоз | |
| zh | 新生儿血色病 | |
| tr | Yenidoğan hemokromatozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 231100 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0009275 | E | validated | |
| MeSH | C536394 | E | validated | |
| UMLS | C0268059 | E | validated | |
| GARD | 7172 | E | validated | |
| MedDRA | 10078355 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309842Disorder of iron metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 21247995[PMID]_16237701[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000463 | Anteverted nares | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000581 | Blepharophimosis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0001943 | Hypoglycemia | |
| HP:0003281 | Increased circulating ferritin concentration | |
| HP:0003452 | Increased circulating iron concentration | |
| HP:0000347 | Micrognathia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0000448 | Prominent nose | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/446
- This record as JSON: /data/d/446.json