HEMOGLOBIN--BETA LOCUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 141900
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:0000790) Hematuria 106 / 7739
2
 (HPO:0004727) Impaired renal concentrating ability 6 / 7739
3
 (HPO:0200023) Priapism 4 / 7739
4
 (HPO:0002754) Osteomyelitis 37 / 7739
5
 (HPO:0010885) Aseptic necrosis 24 / 7739
6
 (HPO:0001081) Cholelithiasis 36 / 7739
7
 (HPO:0000952) Jaundice 105 / 7739
8
 (HPO:0001744) Splenomegaly 337 / 7739
9
 (HPO:0000961) Cyanosis 60 / 7739
10
 (HPO:0001935) Microcytic anemia 32 / 7739
11
 (HPO:0005511) Heinz body anemia 4 / 7739
12
 (HPO:0011904) Persistence of hemoglobin F 5 / 7739
13
 (HPO:0001901) Polycythemia 16 / 7739
14
 (HPO:0005524) Macrocytic hemolytic disease 1 / 7739
15
 (HPO:0008346) Increased red cell sickling tendency 2 / 7739
16
 (HPO:0004810) Congenital hypoplastic anemia 4 / 7739
17
 (HPO:0001878) Hemolytic anemia 83 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: