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 ⁵⁸ ⁶ ⁴¹

Hemoglobin, High Oxygen Saturation of ⁵⁸

Halah ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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 ⁵⁸ 609070

MedGen ⁴³ C1836778

SNOMED-CT via HPO ⁷⁰ 191124002 263681008 34093004

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Summaries for Hemoglobin, High Altitude Adaptation

OMIM : ⁵⁸ 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

Human phenotypes related to Hemoglobin, High Altitude Adaptation:

³³

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of blood and blood-forming tissues ³³		HP:0001871

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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	568.52	Molecular basis known ⁵⁸ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ 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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

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⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

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⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Hemoglobin, High Altitude Adaptation (HALAH)

Aliases & Classifications for Hemoglobin, High Altitude Adaptation

MalaCards integrated aliases for Hemoglobin, High Altitude Adaptation:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hemoglobin, High Altitude Adaptation

Related Diseases for Hemoglobin, High Altitude Adaptation

Symptoms & Phenotypes for Hemoglobin, High Altitude Adaptation

Human phenotypes related to Hemoglobin, High Altitude Adaptation:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Hemoglobin, High Altitude Adaptation

Genetic Tests for Hemoglobin, High Altitude Adaptation

Anatomical Context for Hemoglobin, High Altitude Adaptation

Publications for Hemoglobin, High Altitude Adaptation

Genes for Hemoglobin, High Altitude Adaptation

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

Variations for Hemoglobin, High Altitude Adaptation

ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:

Expression for Hemoglobin, High Altitude Adaptation

Pathways for Hemoglobin, High Altitude Adaptation

GO Terms for Hemoglobin, High Altitude Adaptation

Sources for Hemoglobin, High Altitude Adaptation