MCID: HMG031
MIFTS: 11

Hemoglobin, High Altitude Adaptation

Categories: Genetic diseases, Blood 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
SNOMED-CT via HPO 69 263681008 191124002 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)

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

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

Human phenotypes related to Hemoglobin, High Altitude Adaptation:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of blood and blood-forming tissues 32 HP:0001871

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....