Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 blood transition element cation concentration (HP:0011030)

Parent Node:
Abnormality of iron homeostasis (HP:0011031)

..Starting node
..Increased total iron binding capacity (HP:0025196)

Term ID:

25196

Name:

Increased total iron binding capacity

Synonym:

Definition:

An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.

Comments:

Reference:

HP:0025196

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal circulating ferritin concentration (HP:0040133)

Abnormal hepatic iron concentration (HP:0040134)

Abnormal serum iron concentration (HP:0040130)

Abnormal transferrin saturation (HP:0040135)

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:0025196	HP:0025196	Increased total iron binding capacity	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0025196	HP:0025196	Increased total iron binding capacity	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent	1
HP:0025196	HP:0025196	Increased total iron binding capacity	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0025196	HP:0025196	Increased total iron binding capacity	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0025196	HP:0025196	Increased total iron binding capacity	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1		42

Genes (4) :ABCD3 KIF23 RACGAP1 SLC30A10

Diseases (4) :OMIM:616278 ORPHA:98870 ORPHA:309854 OMIM:613280

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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