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 ²⁹ ⁶ ³⁹

Hemoglobin, High Oxygen Saturation of ⁵⁷

Halah ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal dominant

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

HPO:

³¹

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 ⁴¹ C1836778

SNOMED-CT via HPO ⁶⁸ 191124002 263681008 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) (Updated 05-Apr-2021)

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:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of blood and blood-forming tissues ³¹		HP:0001871

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

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 (Updated 05-Apr-2021)

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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

Genetic tests related to Hemoglobin, High Altitude Adaptation:

#	Genetic test	Affiliating Genes
1	Hemoglobin, High Altitude Adaptation ²⁹	EGLN1

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Anatomical Context for Hemoglobin, High Altitude Adaptation

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Publications for Hemoglobin, High Altitude Adaptation

Articles related to Hemoglobin, High Altitude Adaptation:

#	Title	Authors	PMID	Year
1	A genetic mechanism for Tibetan high-altitude adaptation. ⁵⁷ ⁶	Lorenzo FR...Prchal JT	25129147	2014
2	A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence. ⁵⁷	Lou H...Xu S	26073780	2015
3	Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. ⁵⁷	Huerta-Sanchez E...Nielsen R	25043035	2014
4	Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing. ⁶	Song D...Lee FS	24711448	2014
5	High altitude adaptation in Daghestani populations from the Caucasus. ⁵⁷	Pagani L...Tyler-Smith C	21904933	2012
6	Sequencing of 50 human exomes reveals adaptation to high altitude. ⁵⁷	Yi X...Wang J	20595611	2010
7	Genetic evidence for high-altitude adaptation in Tibet. ⁵⁷	Simonson TS...Ge R	20466884	2010
8	Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m. ⁵⁷	Beall CM...Goldstein MC	15353580	2004

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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	PubMed IDs
1	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	657.77	Molecular basis known ⁵⁷ Genetic Tests ²⁹ 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	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	EGLN1	NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser)	SNV	Affects	156155	rs12097901	GRCh37: 1:231557255-231557255 GRCh38: 1:231421509-231421509
2	EGLN1	NM_022051.2(EGLN1):c.287C>T (p.Ala96Val)	SNV	Uncertain significance	407206	rs113401862	GRCh37: 1:231557348-231557348 GRCh38: 1:231421602-231421602

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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 FMA

²⁰ GARD

²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

Genetic tests related to Hemoglobin, High Altitude Adaptation:

Anatomical Context for Hemoglobin, High Altitude Adaptation

Publications for Hemoglobin, High Altitude Adaptation

Articles related to 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