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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
11 signs/symptoms
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hemochromatosis type 2

GGCX HAMP
VKORC1 HFE2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VKORC1
(0.63)
HAMP



Citations in the biomedical literature:


Hereditary combined deficiency of vitamin K-dependent clotting factors
GGCX VKORC1
Hemochromatosis type 2
HAMP HFE2



Hereditary combined deficiency of vitamin K-dependent clotting factors
Hemochromatosis type 2

Synonym(s):
- Hereditary combined deficiency of factors II, VII, IX and X

Synonym(s):
- Juvenile hemochromatosis

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537247

Hemochromatosis type 2

Very frequent
- Autosomal recessive inheritance
- Congenital hepatic fibrosis
- Diabetes mellitus
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Hyperferritinemia / iron overload
- Late puberty / hypogonadism / hypogenitalism

Frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Articular / joint pain / arthralgia
- Cardiomyopathy / hypertrophic / dilated

Occasional
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pancreatic failure / exocrine pancreas disease


Hereditary combined deficiency of vitamin K-dependent clotting factors

(no data available)