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

Sources

Aliases & Classifications for Hemoglobin, High Altitude Adaptation

MalaCards integrated aliases for Hemoglobin, High Altitude Adaptation:

Name: Hemoglobin, High Altitude Adaptation ⁵⁶ ⁶ ³⁹

Hemoglobin, High Oxygen Saturation of ⁵⁶

Halah ⁵⁶

Characteristics:

OMIM:

⁵⁶

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 ⁵⁶ 609070

MedGen ⁴¹ C1836778

SNOMED-CT via HPO ⁶⁸ 191124002 263681008 34093004

Sources

Summaries for Hemoglobin, High Altitude Adaptation

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.

Sources

Related Diseases for Hemoglobin, High Altitude Adaptation

Sources

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:

⁵⁶

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

Sources

Drugs & Therapeutics for Hemoglobin, High Altitude Adaptation

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

Sources

Genetic Tests for Hemoglobin, High Altitude Adaptation

Sources

Anatomical Context for Hemoglobin, High Altitude Adaptation

Sources

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. ⁶ ⁵⁶	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. ⁵⁶	Lou H...Xu S	26073780	2015
3	Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. ⁵⁶	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. ⁵⁶	Pagani L...Tyler-Smith C	21904933	2012
6	Genetic evidence for high-altitude adaptation in Tibet. ⁵⁶	Simonson TS...Ge R	20466884	2010
7	Sequencing of 50 human exomes reveals adaptation to high altitude. ⁵⁶	Yi X...Wang J	20595611	2010
8	Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m. ⁵⁶	Beall CM...Goldstein MC	15353580	2004

Sources

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	557.92	Molecular basis known ⁵⁶ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁶ GeneCards inferred via : Variants (show sections)

Sources

Variations for Hemoglobin, High Altitude Adaptation

ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EGLN1	NM_022051.2(EGLN1):c.287C>T (p.Ala96Val)	SNV	Conflicting interpretations of pathogenicity	407206	rs113401862	1:231557348-231557348	1:231421602-231421602
2	EGLN1	NM_022051.2(EGLN1):c.12C>G (p.Asp4Glu)	SNV	Benign/Likely benign	225682	rs186996510	1:231557623-231557623	1:231421877-231421877
3	EGLN1	NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser)	SNV	Benign	242640	rs12097901	1:231557255-231557255	1:231421509-231421509

Sources

Expression for Hemoglobin, High Altitude Adaptation

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

Sources

Pathways for Hemoglobin, High Altitude Adaptation

Sources

GO Terms for Hemoglobin, High Altitude Adaptation

Sources

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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

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 TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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