Disease #01673 (atransferrinemia, OMIM:209300)

Official abbreviation -
Name atransferrinemia
OMIM ID 209300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene TF
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00104896 - - - F no Spain - - 0 - - atransferrinemia Severe hypochromic microcytic anemia TF TF 2 1 Mayka Sanchez
00104897 - - - M ? Germany - - 0 - - atransferrinemia Severe hypochromic microcytic anemia TF TF 2 1 Mayka Sanchez
00269324 - - 2-generation family, 1 affected, second degree consanguineous parents F yes Tunisia North african 00y06m 0 - blood transfusions every 1 to 2 months + iron chelator (Deferasirox) atransferrinemia 6m, no history of any serious disorder in family; neonatal period severe hypochromic and microcytic anemia with undetectable serum transferrin TF TF 1 1 Yessine Amri
Legend   How to query