HEMOGLOBIN--ALPHA LOCUS 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 141800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000952) Jaundice 105 / 7739
2
 (HPO:0000961) Cyanosis 60 / 7739
3
 (HPO:0011907) Reduced alpha/beta synthesis ratio 6 / 7739
4
 (HPO:0005511) Heinz body anemia 4 / 7739
5
 (HPO:0001901) Polycythemia 16 / 7739
6
 (HPO:0012119) Methemoglobinemia 5 / 7739
7
 (HPO:0004840) Hypochromic microcytic anemia 15 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: