Abnormal isoelectric focusing of serum transferrin

Symptom Information:

Symptom ID: HPO:0003160
Synonyms:
Abnormal isoelectric focusing of serum transferring [HPO:0003160]
Abnormal transferrin isoelectric focusing [HPO:0003160]
Abnormal isoelectric focusing of serum transferrin [OMIM:Abnormal isoelectric focusing of serum transferrin]
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)]
Abnormal transferrin isoelectric focusing (IEF) [OMIM:Abnormal transferrin isoelectric focusing (IEF)]
Quality:
Cross references:
OMIM: "Abnormal isoelectric focusing of serum transferrin" [OMIM:Abnormal isoelectric focusing of serum transferrin]
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)]
OMIM: "Abnormal transferrin isoelectric focusing (IEF)" [OMIM:Abnormal transferrin isoelectric focusing (IEF)]
Is a (Direct Parents):
HPO         Abnormal protein N-linked glycosylation
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)
MedDRA:
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
COG1-CDG (Orphanet:263508)
DK1-CDG (Orphanet:91131)
DPM1-CDG (Orphanet:79322)
DPM3-CDG (Orphanet:263494)
RFT1-CDG (Orphanet:244310)
Wrinkly skin syndrome (Orphanet:2834)