Symptomatic form of HFE-related hemochromatosis
Synonyms: Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare form of hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symptomatic form of HFE-related hemochromatosis | Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1 |
| fr | Hémochromatose associée à HFE, forme symptomatique | Forme symptomatique de l'hémochromatose classique · Hémochromatose de type 1, forme symptomatique |
| de | Symptomatische Form der HFE-Gen-assoziierten Hämochromatose | Hämochromatose Typ 1, symptomatische Form · Symptomatische Form der klassischen Hämochromatose |
| es | Forma sintomática de la hemocromatosis asociada a HFE | Forma sintomática de la hemocromatosis clásica · Forma sintomática de la hemocromatosis tipo 1 |
| it | Forma sintomatica dell'emocromatosi correlata ad HFE | Forma sintomatica dell'emocromatosi classica · Forma sintomatica dell'emocromatosi tipo 1 |
| nl | Symptomatische vorm van HFE-gerelateerde hemochromatose | Symptomatische vorm van hemochromatose type 1 · Symptomatische vorm van klassieke hemochromatose |
| pt | Forma sintomática de hemocromatose HFE-relacionada | Forma sintomática de hemocromatose clássica · Forma sintomática de hemocromatose tipo 1 |
| pl | Objawowa postać hemochromatozy typu 1 | Objawowa postać hemochromatozy dziedzicznej związanej z HFE · Objawowa postać hemochromatozy klasycznej · Objawowa postać hemochromatozy związanej z HFE |
| cs | Symptomatická forma hemochromatózy, typ 1 | Symptomatic form of classic hemochromatosis · Symptomatic form of HFE-related hereditary hemochromatosis · Symptomatická forma klasické hemochromatózy · Symptomatická forma dědičné hemochromatózy související s HFE |
| uk | Симптоматична форма гемохроматозу, повязаного з HFE | Симптоматична форма класичного гемохроматозу · Симптоматична форма гемохроматозу типу 1 |
| zh | 1型血色素沉着病的症状 | HFE相关的遗传性血色素沉着病的症状 |
| tr | Hemokromatoz tip 1'in semptomatik formu | Klasik hemokromatozun semptomatik formu · HFE-ilişkili kalıtsal hemokromatozun semptomatik formu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 235200 | NTBT | validated | |
| ICD-10 | E83.1 | NTBT | attributed | validated |
| ICD-11 | 5C64.10 | NTBT | attributed | validated |
| MONDO | 0034028 | E | validated | |
| UMLS | C5679990 | E | validated | |
| GARD | 10417 | 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 (1):
- ORPHA:220489Rare hereditary hemochromatosis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMP6 | Disease-causing germline mutation(s) in | Assessed | HGNC:1073 | ENSG00000153162 | 112266 | 6p24.3 | bone morphogenetic protein 6 | 28335084[PMID] |
| HFE | Disease-causing germline mutation(s) in | Assessed | HGNC:4886 | ENSG00000010704 | 613609 | 6p22.2 | homeostatic iron regulator | 20301613[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
44 annotations · validated 2020-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011031 | Abnormality of iron homeostasis | |
| HP:0012463 | Elevated transferrin saturation | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0003281 | Increased circulating ferritin concentration | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0003040 | Arthropathy | |
| HP:0003199 | Decreased muscle mass | |
| HP:0012378 | Fatigue | |
| HP:0007574 | Generalized bronze hyperpigmentation | |
| HP:0002240 | Hepatomegaly | |
| HP:0003074 | Hyperglycemia | |
| Occasional (29-5%) | ||
| HP:0011911 | Abnormality of metacarpophalangeal joint | |
| HP:0000141 | Amenorrhea | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0001640 | Cardiomegaly | |
| HP:0001638 | Cardiomyopathy | |
| HP:0100626 | Chronic hepatic failure | |
| HP:0001394 | Cirrhosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0046504 | Decreased libido | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000819 | Diabetes mellitus | |
| HP:0030848 | Elevated jugular venous pressure | |
| HP:0100639 | Erectile dysfunction | |
| HP:0000771 | Gynecomastia | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000821 | Hypothyroidism | |
| HP:0000789 | Infertility | |
| HP:0001387 | Joint stiffness | |
| HP:0001386 | Joint swelling | |
| HP:0001254 | Lethargy | |
| HP:0001324 | Muscle weakness | |
| HP:0000939 | Osteoporosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0001409 | Portal hypertension | |
| HP:0001744 | Splenomegaly | |
| HP:0005198 | Stiff interphalangeal joints | |
| HP:0000029 | Testicular atrophy | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0000741 | Apathy | |
| HP:0011675 | Arrhythmia | |
| HP:0030153 | Cholangiocarcinoma | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 25454304[PMID]_20301613[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/465508
- This record as JSON: /data/d/465508.json