HALAH
MCID: HMG031
MIFTS: 11

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 58 6 41
Hemoglobin, High Oxygen Saturation of 58
Halah 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
hemoglobin, high altitude adaptation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609070
MedGen 43 C1836778
SNOMED-CT via HPO 70 191124002 263681008 34093004

Summaries for Hemoglobin, High Altitude Adaptation

OMIM : 58 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:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 33 HP:0001871

Symptoms via clinical synopsis from OMIM:

58
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

Variations for Hemoglobin, High Altitude Adaptation

ClinVar genetic disease variations for Hemoglobin, High Altitude Adaptation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh37 Chromosome 1, 231557255: 231557255
2 EGLN1 NM_022051.2(EGLN1): c.380G> C (p.Cys127Ser) single nucleotide variant Benign rs12097901 GRCh38 Chromosome 1, 231421509: 231421509
3 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh37 Chromosome 1, 231557623: 231557623
4 EGLN1 NM_022051.2(EGLN1): c.12C> G (p.Asp4Glu) single nucleotide variant Benign/Likely benign rs186996510 GRCh38 Chromosome 1, 231421877: 231421877

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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