ORPHA:79230
HJV or HAMP-related hemochromatosis
Synonyms: Hemochromatosis type 2 · Juvenile hemochromatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
An early-onset and most severe form of rare hemochromatosis characterized by the usual features of hemochromatosis accompanied by cardiomyopathy and hypogonadism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HJV or HAMP-related hemochromatosis | Hemochromatosis type 2 · Juvenile hemochromatosis |
| fr | Hémochromatose associée à HJV ou HAMP | Hémochromatose de type 2 · Hémochromatose juvénile |
| de | Hämochromatose, HJV oder HAMP-assoziierte | Hämochromatose Typ 2 · Hämochromatose, juvenile |
| es | Hemocromatosis asociada a los genes HJV o HAMP | Hemocromatosis juvenil · Hemocromatosis tipo 2 |
| it | Emocromatosi correlata a HJV o HAMP | Emocromatosi giovanile · Emocromatosi tipo 2 |
| nl | HJV- of HAMP-gerelateerde hemochromatose | Hemochromatose type 2 · Juveniele hemochromatose |
| pt | Hemocromatose relacionada com HJV ou HAMP | Hemocromatose juvenil · Hemocromatose tipo 2 |
| pl | Hemochromatoza typu 2 | Hemochromatoza młodzieńcza · Hemochromatoza związana z HJV lub HAMP |
| cs | Hemochromatóza, typ 2 | Juvenilní hemochromatóza |
| uk | HJV або HAMP-асоційований гемохроматоз | Гемохроматоз типу 2 · Ювенільний гемохроматоз |
| zh | 血色素沉着病2型 | 青少年血红蛋白沉积症 |
| tr | Hemokromatoz tip 2 | jüvenil hemokromatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602390 | BTNT | validated | |
| OMIM | 613313 | BTNT | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0019257 | E | validated | |
| MeSH | C537247 | E | validated | |
| UMLS | C0268060 | E | validated | |
| GARD | 10092 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:648569Non-HFE-related hemochromatosis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HAMP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15598 | ENSG00000105697 | 606464 | 19q13.12 | hepcidin antimicrobial peptide | 20301349[PMID] |
| HJV | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4887 | ENSG00000168509 | 608374 | 1q21.1 | hemojuvelin BMP co-receptor | 20301349[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 74 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0012463 | Elevated transferrin saturation | |
| HP:0003281 | Increased circulating ferritin concentration | |
| Frequent (79-30%) | ||
| HP:0003040 | Arthropathy | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000135 | Hypogonadism | |
| HP:0000802 | Impotence | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| Occasional (29-5%) | ||
| HP:0012093 | Abnormality of endocrine pancreas physiology | |
| HP:0000939 | Osteoporosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22083147[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79230
- This record as JSON: /data/d/79230.json