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 I transferrin isoform profile (HP:0003642)

Term ID:

3642

Name:

Type I transferrin isoform profile

Synonym:

Abnormal isoelectric focusing of serum transferrin, type I pattern; Isoelectric focusing of serum transferrin consistent with CDG type I; Type 1 transferrin isoform profile

Definition:

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.

Comments:

Reference:

HP:0003642

Genes and Diseases:

Child Nodes:

Sister Nodes:

Type II transferrin isoform profile (HP:0012301)

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:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent	41
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040281 - Very frequent	46
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent	80
HP:0003642	HP:0003642	Type I transferrin isoform profile	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.	12

Genes (19) :ALG1 ALG11 ALG13 ALG2 ALG3 ALG6 ALG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAGT1 MPDU1 MPI PMM2 SRD5A3 SSR4

Diseases (26) :OMIM:608540 ORPHA:280071 OMIM:613661 OMIM:300884 ORPHA:79326 OMIM:607906 OMIM:601110 ORPHA:79320 OMIM:603147 ORPHA:79325 OMIM:608104 OMIM:614507 ORPHA:300536 OMIM:610768 ORPHA:91131 OMIM:608093 OMIM:608799 ORPHA:329178 OMIM:612937 OMIM:301031 ORPHA:79323 OMIM:602579 OMIM:212065 OMIM:612379 ORPHA:324737 OMIM:300934

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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