Hemoglobin, High Altitude Adaptation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hemoglobin, High Altitude Adaptation

MalaCards integrated aliases for Hemoglobin, High Altitude Adaptation:

Name: Hemoglobin, High Altitude Adaptation ⁵⁷ ⁶ ⁴⁰

Hemoglobin, High Oxygen Saturation of ⁵⁷

Halah ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
high frequency in tibetan individuals
individuals do not develop erythrocytosis under hypoxic conditions

HPO:

³²

hemoglobin, high altitude adaptation:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 609070

MedGen ⁴² C1836778

SNOMED-CT via HPO ⁶⁹ 263681008 191124002 34093004

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Summaries for Hemoglobin, High Altitude Adaptation

OMIM : ⁵⁷ 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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Related Diseases for Hemoglobin, High Altitude Adaptation

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Symptoms & Phenotypes for Hemoglobin, High Altitude Adaptation

Symptoms via clinical synopsis from OMIM:

⁵⁷

Hematology:
high blood oxygen saturation of hemoglobin (10% higher mean than the lowest values of population studied)
decreased erythropoietic response under hypoxic conditions

Clinical features from OMIM:

609070

Human phenotypes related to Hemoglobin, High Altitude Adaptation:

³²

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of blood and blood-forming tissues ³²		HP:0001871

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Drugs & Therapeutics for Hemoglobin, High Altitude Adaptation

Search Clinical Trials , NIH Clinical Center for Hemoglobin, High Altitude Adaptation

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Genetic Tests for Hemoglobin, High Altitude Adaptation

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Anatomical Context for Hemoglobin, High Altitude Adaptation

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Publications for Hemoglobin, High Altitude Adaptation

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Genes for Hemoglobin, High Altitude Adaptation

Genes related to Hemoglobin, High Altitude Adaptation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	568.62	Molecular basis known ⁵⁷ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)

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Variations for Hemoglobin, High Altitude Adaptation

ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EGLN1	NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser)	single nucleotide variant	Benign	rs12097901	GRCh37	Chromosome 1, 231557255: 231557255
2	EGLN1	NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser)	single nucleotide variant	Benign	rs12097901	GRCh38	Chromosome 1, 231421509: 231421509
3	EGLN1	NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu)	single nucleotide variant	Benign/Likely benign	rs186996510	GRCh37	Chromosome 1, 231557623: 231557623
4	EGLN1	NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu)	single nucleotide variant	Benign/Likely benign	rs186996510	GRCh38	Chromosome 1, 231421877: 231421877

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Expression for Hemoglobin, High Altitude Adaptation

Search GEO for disease gene expression data for Hemoglobin, High Altitude Adaptation.

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Pathways for Hemoglobin, High Altitude Adaptation

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GO Terms for Hemoglobin, High Altitude Adaptation

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Sources for Hemoglobin, High Altitude Adaptation

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