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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
6 signs/symptoms
Recessive hereditary methemoglobinemia type 2
Hereditary persistence of fetal hemoglobin - beta-thalassemia

CYB5R3 BCL11A
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYB5R3
(0.52)
HBG2



Citations in the biomedical literature:


Recessive hereditary methemoglobinemia type 2
CYB5R3
Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1



Recessive hereditary methemoglobinemia type 2
Hereditary persistence of fetal hemoglobin - beta-thalassemia

Synonym(s):
- NADH-cytochrome b5reductase deficiency type 2
- NADH-diaphorase deficiency type 2
- Recessive congenital methemoglobinemia type 2

Synonym(s):
- HPFH - beta-thalassemia

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: young adult
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
5 OMIM references -
No MeSH references

Hereditary persistence of fetal hemoglobin - beta-thalassemia

Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

Frequent
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)



Recessive hereditary methemoglobinemia type 2

(no data available)