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Trait

Type I transferrin isoform profile

Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.

HPO HP:0003642

Summary

Also called
Abnormal isoelectric focusing of serum transferrin, type I pattern, Isoelectric focusing of serum transferrin consistent with CDG type I, Type 1 transferrin isoform profile
Body system
Laboratory abnormality

23 genes linked to Type I transferrin isoform profile

Changes in these genes cause rare conditions in which Type I transferrin isoform profile is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseAlwaysIn 1 condition
ALG11ALG11 alpha-1,2-mannosyltransferaseAlwaysIn 2 conditions
ALG12ALG12 alpha-1,6-mannosyltransferaseAlwaysIn 1 condition
ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitAlwaysIn 1 condition
ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseAlwaysIn 2 conditions
ALG3ALG3 alpha-1,3- mannosyltransferaseAlwaysIn 1 condition
ALG6ALG6 alpha-1,3-glucosyltransferaseAlwaysIn 2 conditions
ALG8ALG8 alpha-1,3-glucosyltransferaseAlwaysIn 2 conditions
ALG9ALG9 alpha-1,2-mannosyltransferaseAlwaysIn 1 condition
DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitAlwaysIn 2 conditions
DOLKdolichol kinaseAlwaysIn 2 conditions
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1AlwaysIn 1 condition
DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatoryAlwaysIn 1 condition
MAGT1magnesium transporter 1AlwaysIn 1 condition
PMM2phosphomannomutase 2AlwaysIn 1 condition
RFT1RFT1 glycolipid translocator homologAlwaysIn 1 condition
MPDU1mannose-P-dolichol utilization defect 1Very often (80–99%)In 1 condition
SRD5A3steroid 5 alpha-reductase 3Very often (80–99%)In 2 conditions
DHRSXdehydrogenase/reductase X-linkedOften (30–79%)In 1 condition
DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatoryOften (30–79%)In 1 condition
DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalyticNot recordedIn 1 condition
MPImannose phosphate isomeraseNot recordedIn 1 condition
SSR4signal sequence receptor subunit 4Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormal isoelectric focusing of serum transferrin

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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