Type I transferrin isoform profile

Symptom Information:

Symptom ID: HPO:0003642
Synonyms:
Abnormal isoelectric focusing of serum transferrin (type 1 pattern) [HPO:0003642]
Abnormal isoelectric focusing of serum transferrin, type I pattern [HPO:0003642]
Isoelectric focusing of serum transferrin consistent with CDG type I [HPO:0003642]
Abnormal isoelectric focusing of serum transferrin (type 1 pattern) [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern)]
Abnormal isoelectric focusing of serum transferrin, type I pattern [OMIM:Abnormal isoelectric focusing of serum transferrin, type I pattern]
Isoelectric focusing of serum transferrin consistent with CDG type I [OMIM:Isoelectric focusing of serum transferrin consistent with CDG type I]
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 isoelectric focusing of serum transferrin (type 1 pattern) Loss of complete N-glycans [OMIM,du]
Quality:
Cross references:
OMIM: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern)" [OMIM:Abnormal isoelectric focusing of serum transferrin (type 1 pattern)]
OMIM: "Abnormal isoelectric focusing of serum transferrin, type I pattern" [OMIM:Abnormal isoelectric focusing of serum transferrin, type I pattern]
OMIM: "Isoelectric focusing of serum transferrin consistent with CDG type I" [OMIM:Isoelectric focusing of serum transferrin consistent with CDG type I]
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 I transferrin isoform profile(HPO:0003642)
MedDRA:
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

ALG1-CDG (Orphanet:79327)
ALG11-CDG (Orphanet:280071)
ALG13-CDG (Orphanet:324422)
ALG3-CDG (Orphanet:79321)
ALG6-CDG (Orphanet:79320)
COG5-CDG (Orphanet:263487)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
DDOST-CDG (Orphanet:300536)
DK1-CDG (Orphanet:91131)
DPAGT1-CDG (Orphanet:86309)
DPM1-CDG (Orphanet:79322)
DPM3-CDG (Orphanet:263494)
MPI-CDG (Orphanet:79319)
PGM1-CDG (Orphanet:319646)
PMM2-CDG (Orphanet:79318)
SRD5A3-CDG (Orphanet:324737)