HALAH
MCID: HMG031
MIFTS: 15
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Hemoglobin, High Altitude Adaptation (HALAH)
Categories:
Blood diseases, Genetic diseases
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MalaCards integrated aliases for Hemoglobin, High Altitude Adaptation:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
high frequency in tibetan individuals individuals do not develop erythrocytosis under hypoxic conditions HPO:31Classifications: |
OMIM :
56
Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by Lorenzo et al., 2014). (609070)
MalaCards based summary : Hemoglobin, High Altitude Adaptation, is also known as hemoglobin, high oxygen saturation of. An important gene associated with Hemoglobin, High Altitude Adaptation is EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1). Related phenotype is abnormality of blood and blood-forming tissues. |
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Human phenotypes related to Hemoglobin, High Altitude Adaptation:31
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Articles related to Hemoglobin, High Altitude Adaptation:
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ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:6
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Search
GEO
for disease gene expression data for Hemoglobin, High Altitude Adaptation.
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