Type II transferrin isoform profile

Symptom Information:

Symptom ID: HPO:0012301
Synonyms:
Abnormal isoelectric focusing of serum transferrin (type 2 pattern) [HPO:0012301]
Abnormal isoelectric focusing of serum transferrin, type II pattern [HPO:0012301]
Isoelectric focusing of serum transferrin consistent with CDG type II [HPO:0012301]
Abnormal isoelectric focusing of serum transferrin (type 2 pattern) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 2 pattern)]
Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)]
Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)]
Abnormal isoelectric focusing of serum transferrin (type I pattern) [OMIM:Abnormal isoelectric focusing of serum transferrin (type I pattern)]
Quality:
Cross references:
OMIM: "Abnormal isoelectric focusing of serum transferrin (type 2 pattern)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 2 pattern)]
OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)]
OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern) (in 1 patient)]
OMIM: "Abnormal isoelectric focusing of serum transferrin (type I pattern)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type I pattern)]
Is a (Direct Parents):
HPO         Abnormal isoelectric focusing of serum transferrin
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carbohydrate metabolism/homeostasis(HPO:0011013)
             Abnormal glycosylation(HPO:0012345)
                Abnormal protein glycosylation(HPO:0012346)
                   Abnormal protein N-linked glycosylation(HPO:0012347)
                      Abnormal isoelectric focusing of serum transferrin(HPO:0003160)
                         Type II transferrin isoform profile(HPO:0012301)
MedDRA:
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
DPM1-CDG (Orphanet:79322)
MGAT2-CDG (Orphanet:79329)
PGM1-CDG (Orphanet:319646)