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
..Abnormal transferrin saturation (HP:0040135)

Term ID:

40135

Name:

Abnormal transferrin saturation

Synonym:

Definition:

Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.

Comments:

Reference:

HP:0040135

Genes and Diseases:

Child Nodes:

........

Elevated transferrin saturation (HP:0012463)

........

Decreased transferrin saturation (HP:0012464)

Sister Nodes:

Abnormal circulating ferritin concentration (HP:0040133)

Abnormal hepatic iron concentration (HP:0040134)

Abnormal serum iron concentration (HP:0040130)

Increased total iron binding capacity (HP:0025196)

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:0040135	HP:0040135	Abnormal transferrin saturation	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2		15
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0040135	HP:0040135	Abnormal transferrin saturation	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0040135	HP:0012464	Decreased transferrin saturation	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0040135	HP:0012463	Elevated transferrin saturation	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent
HP:0040135	HP:0012463	Elevated transferrin saturation	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent	15
HP:0040135	HP:0012463	Elevated transferrin saturation	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0040135	HP:0012463	Elevated transferrin saturation	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent	38
HP:0040135	HP:0012463	Elevated transferrin saturation	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0040135	HP:0012463	Elevated transferrin saturation	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040283 - Occasional	51
HP:0040135	HP:0012463	Elevated transferrin saturation	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0040135	HP:0012463	Elevated transferrin saturation	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0040135	HP:0012463	Elevated transferrin saturation	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0040135	HP:0012464	Decreased transferrin saturation	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent	1
HP:0040135	HP:0012463	Elevated transferrin saturation	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67

Genes (11) :BCS1L BMP6 HAMP HFE HJV PKLR SLC25A38 SLC30A10 SLC40A1 STEAP3 TFR2

Diseases (11) :ORPHA:53693 ORPHA:465508 ORPHA:79230 OMIM:613313 ORPHA:766 OMIM:205950 ORPHA:309854 OMIM:606069 OMIM:615234 ORPHA:300298 OMIM:604250

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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