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 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:



External Ids:

OMIM 56 609070
MedGen 41 C1836778
SNOMED-CT via HPO 68 191124002 263681008 34093004

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.

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:

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

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:

# Title Authors PMID Year
1
A genetic mechanism for Tibetan high-altitude adaptation. 6 56
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
26073780 2015
3
Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA. 56
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. 56
21904933 2012
6
Genetic evidence for high-altitude adaptation in Tibet. 56
20466884 2010
7
Sequencing of 50 human exomes reveals adaptation to high altitude. 56
20595611 2010
8
Higher offspring survival among Tibetan women with high oxygen saturation genotypes residing at 4,000 m. 56
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 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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