Hemochromatosis type 3
- Synonyms
- Hemochromatosis due to defect in transferrin receptor 2; Hereditary hemochromatosis type 3; TFR2-Related Hereditary Hemochromatosis
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Marco De Gobbi
- Antonella Roetto
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
Elevated circulating hepatic transaminase concentration
- MedGen UID: 338525
- Concept ID: C1848701
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated transferrin saturation
Elevated transferrin saturation
- MedGen UID: 868498
- Concept ID: C4022892
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating ferritin concentration
Increased circulating ferritin concentration
- MedGen UID: 69130
- Concept ID: C0241013
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating iron concentration
Increased circulating iron concentration
- MedGen UID: 57739
- Concept ID: C0151900
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating hepatic transaminase concentration
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
- Abnormality of the endocrine system
- Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
- MedGen UID: 82883
- Concept ID: C0271623
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypogonadotropic hypogonadism
- Abnormality of the genitourinary system
- Amenorrhea
Amenorrhea
- MedGen UID: 8016
- Concept ID: C0002453
- Finding: Finding
Abnormality of the genitourinary system
- Impotence
Impotence
- MedGen UID: 1720680
- Concept ID: CN208474
- Finding: Finding
Abnormality of the genitourinary system
- Amenorrhea
- Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Lymphopenia
- Abnormality of the integument
- Hyperpigmentation of the skin
Hyperpigmentation of the skin
- MedGen UID: 57992
- Concept ID: C0162834
- Finding: Pathologic Function
Abnormality of the integument
- Purpura
Purpura
- MedGen UID: 19584
- Concept ID: C0034150
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperpigmentation of the skin
- Abnormality of the musculoskeletal system
- Arthritis
Arthritis
- MedGen UID: 2043
- Concept ID: C0003864
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthritis
- Constitutional symptom
- Fatigue
Fatigue
- MedGen UID: 41971
- Concept ID: C0015672
- Finding: Sign or Symptom
Constitutional symptom
- Fatigue
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