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 glycosylation (HP:0012346)

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

..Starting node
..Abnormal isoelectric focusing of serum transferrin (HP:0003160)

Term ID:

3160

Name:

Abnormal isoelectric focusing of serum transferrin

Synonym:

Abnormal isoelectric focusing of transferrin; Abnormal transferrin isoelectric focusing

Definition:

Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. 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. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.

Comments:

Reference:

HP:0003160

Genes and Diseases:

Child Nodes:

........

Type I transferrin isoform profile (HP:0003642)

........

Type II transferrin isoform profile (HP:0012301)

Sister Nodes:

Abnormal fucosylation of protein N-linked glycosylation (HP:0012352)

Abnormal mannosylation of N-linked protein glycosylation (HP:0012355)

Abnormal sialylation of N-linked protein glycosylation (HP:0012349)

Decreased galactosylation of N-linked protein glycosylation (HP:0012348)

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:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent	41
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip		41
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id		37
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR		62
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG		62
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.	55
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0003160	HP:0003160	Abnormal isoelectric focusing of serum transferrin	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy		12
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.	58
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040281 - Very frequent	41
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG11 CL E G H	440138	32456	OMIM:613661	Congenital disorder of glycosylation, type Ip	.	41
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040281 - Very frequent	46
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG5 CL E G H	10466	14857	OMIM:613612	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I		79
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR	.	62
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC		17
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040282 - Frequent	93
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0003160	HP:0012301	Type II transferrin isoform profile	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040281 - Very frequent	11
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040281 - Very frequent	80
HP:0003160	HP:0003642	Type I transferrin isoform profile	1	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	.	12

Genes (38) :ALG1 ALG11 ALG13 ALG2 ALG3 ALG6 ALG8 ATP6AP1 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1E1 B4GALT1 COG1 COG4 COG5 COG6 COG7 COG8 DDOST DOLK DPAGT1 DPM1 DPM2 DPM3 MAGT1 MAN1B1 MGAT2 MPDU1 MPI PGM1 PMM2 RFT1 SLC35A2 SLC37A4 SLC39A8 SRD5A3 SSR4

Diseases (49) :OMIM:608540 ORPHA:280071 OMIM:613661 OMIM:300884 ORPHA:79326 OMIM:607906 OMIM:601110 ORPHA:79320 OMIM:603147 ORPHA:79325 OMIM:608104 OMIM:300972 OMIM:301045 ORPHA:357074 OMIM:219200 ORPHA:2834 OMIM:278250 ORPHA:79332 ORPHA:263508 OMIM:611209 ORPHA:263501 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:79333 OMIM:611182 OMIM:614507 ORPHA:300536 OMIM:610768 ORPHA:91131 OMIM:608093 OMIM:608799 OMIM:615042 ORPHA:329178 OMIM:612937 OMIM:301031 ORPHA:397941 OMIM:212066 ORPHA:79323 OMIM:602579 OMIM:614921 OMIM:212065 OMIM:612015 OMIM:300896 OMIM:619525 ORPHA:468699 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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