Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal protein N-linked glycosylation (HP:0012347)

Parent Node:
Abnormal isoelectric focusing of serum transferrin (HP:0003160)

..Starting node
..Type II transferrin isoform profile (HP:0012301)

Term ID:

12301

Name:

Type II transferrin isoform profile

Synonym:

Abnormal isoelectric focusing of serum transferrin, type 2 pattern; Abnormal isoelectric focusing of serum transferrin, type II pattern; Isoelectric focusing of serum transferrin consistent with CDG type II; Type 2 transferrin isoform profile

Definition:

Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.

Comments:

Reference:

HP:0012301

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type I transferrin isoform profile (HP:0003642)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0012301	HP:0012301	Type II transferrin isoform profile	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent	11

Genes (13) :ATP6AP1 ATP6AP2 B4GALT1 COG1 COG4 COG5 COG6 COG7 COG8 MAN1B1 MGAT2 SLC37A4 SLC39A8

Diseases (14) :OMIM:300972 OMIM:301045 ORPHA:79332 ORPHA:263508 OMIM:611209 ORPHA:263501 OMIM:613612 OMIM:614576 ORPHA:79333 OMIM:611182 ORPHA:397941 OMIM:212066 OMIM:619525 ORPHA:468699

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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