HALAH
MCID: HMG031
MIFTS: 16

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 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:



External Ids:

OMIM® 57 609070
MedGen 41 C1836778
SNOMED-CT via HPO 68 191124002 263681008 34093004

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.

Related Diseases for Hemoglobin, High Altitude Adaptation

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)

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

Genetic tests related to Hemoglobin, High Altitude Adaptation:

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

Anatomical Context for Hemoglobin, High Altitude Adaptation

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
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
26073780 2015
3
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. 57
25043035 2014
4
Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing. 6
24711448 2014
5
High altitude adaptation in Daghestani populations from the Caucasus. 57
21904933 2012
6
Sequencing of 50 human exomes reveals adaptation to high altitude. 57
20595611 2010
7
Genetic evidence for high-altitude adaptation in Tibet. 57
20466884 2010
8
Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m. 57
15353580 2004

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

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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