HALAH
MCID: HMG031
MIFTS: 15

Hemoglobin, High Altitude Adaptation (HALAH)

Categories: Blood diseases, Genetic diseases

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:



External Ids:

OMIM 57 609070
MedGen 42 C1836778

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.

Related Diseases for Hemoglobin, High Altitude Adaptation

Symptoms & Phenotypes for Hemoglobin, High Altitude Adaptation

Human phenotypes related to Hemoglobin, High Altitude Adaptation:

32 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 32 HP:0001871

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

Drugs & Therapeutics for Hemoglobin, High Altitude Adaptation

Search Clinical Trials , NIH Clinical Center 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:

(showing 7, show less)
# Title Authors PMID Year
1
A genetic mechanism for Tibetan high-altitude adaptation. 8 71
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. 8
26073780 2015
3
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. 8
25043035 2014
4
High altitude adaptation in Daghestani populations from the Caucasus. 8
21904933 2012
5
Genetic evidence for high-altitude adaptation in Tibet. 8
20466884 2010
6
Sequencing of 50 human exomes reveals adaptation to high altitude. 8
20595611 2010
7
Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m. 8
15353580 2004

Variations for Hemoglobin, High Altitude Adaptation

ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:

6 (showing 3, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EGLN1 NM_022051.2(EGLN1): c.287C> T (p.Ala96Val) single nucleotide variant Uncertain significance rs113401862 1:231557348-231557348 1:231421602-231421602
2 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 1:231557623-231557623 1:231421877-231421877
3 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 1:231557255-231557255 1:231421509-231421509

Expression for Hemoglobin, High Altitude Adaptation

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

Pathways for Hemoglobin, High Altitude Adaptation

GO Terms for Hemoglobin, High Altitude Adaptation

Sources for Hemoglobin, High Altitude Adaptation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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