ORPHA:225123
TFR2-related hemochromatosis
Synonyms: Hereditary hemochromatosis type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TFR2-related hemochromatosis | Hereditary hemochromatosis type 3 |
| fr | Hémochromatose associée à TFR2 | Hémochromatose de type 3 |
| de | Hämochromatose, TFR2-Gen-assoziierte | Hämochromatose, TFR2-Gen-assoziierte · Hämochromatose, hereditäre, Typ 3 |
| es | Hemocromatosis asociada a TFR2 | Hemocromatosis hereditaria tipo 3 |
| it | Emocromatosi correlata a TFR2 | Emocromatosi ereditaria tipo 3 |
| nl | TFR2-gerelateerde hemochromatose | Hereditaire hemochromatose type 3 |
| pt | Hemocromatose TFR2-relacionada | Hemocromatose hereditária tipo 3 |
| pl | Hemochromatoza typu 3 | Hemochromatoza związana z TFR2 |
| cs | Hemochromatóza, typ 3 | TFR2-vázaná hemochromatóza |
| uk | Гемохроматоз, повязаний з TFR2 | Спадковий гемохроматоз типу 3 |
| zh | 血色素沉着症3型 | TFR2基因相关血色素沉着症 |
| tr | Hemokromatoz tip 3 | TFR2-ilişkili hemokromatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604250 | E | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | index | validated |
| MONDO | 0011417 | E | validated | |
| MeSH | C537248 | E | validated | |
| UMLS | C1858664 | E | validated | |
| GARD | 10093 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TFR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11762 | ENSG00000106327 | 604720 | 7q22.1 | transferrin receptor 2 | 26029709[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 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
23 annotations · validated 2026-03-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012463 | Elevated transferrin saturation | |
| HP:0003281 | Increased circulating ferritin concentration | |
| Frequent (79-30%) | ||
| HP:0012432 | Chronic fatigue | |
| HP:0031876 | Decreased circulating hepcidin concentration | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012465 | Elevated hepatic iron concentration | |
| HP:0003452 | Increased circulating iron concentration | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000141 | Amenorrhea | |
| HP:0005059 | Arthralgia/arthritis | |
| HP:0025406 | Asthenia | |
| HP:0001678 | Atrioventricular block | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001394 | Cirrhosis | |
| HP:0025077 | Decreased QRS voltage | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002240 | Hepatomegaly | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000802 | Impotence | |
| HP:0004268 | Osteoarthritis of the small joints of the hand | |
| HP:0007505 | Progressive hyperpigmentation | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26029709[PMID]_34601591[PMID]_20301523[PMID]_38850209[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/225123
- This record as JSON: /data/d/225123.json