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 cation concentration (HP:0010929)

Parent Node:
Abnormal blood transition element cation concentration (HP:0011030)

..Starting node
..Abnormality of iron homeostasis (HP:0011031)

Term ID:

11031

Name:

Abnormality of iron homeostasis

Synonym:

Definition:

An abnormality of the homeostasis (concentration) of iron cation.

Comments:

Reference:

HP:0011031

Genes and Diseases:

Child Nodes:

........

Increased total iron binding capacity (HP:0025196)

........

Abnormal serum iron (HP:0040130)

................... HP:0003452 Increased serum iron
................... HP:0040303 Decreased serum iron

........

Abnormal serum ferritin (HP:0040133)

................... HP:0003281 Increased serum ferritin
................... HP:0012343 Decreased serum ferritin

........

Abnormal hepatic iron concentration (HP:0040134)

................... HP:0012465 Elevated hepatic iron concentration

........

Abnormal transferrin saturation (HP:0040135)

................... HP:0012463 Elevated transferrin saturation
................... HP:0012464 Decreased transferrin saturation

Sister Nodes:

Abnormal blood zinc concentration (HP:0008277)

Abnormal circulating copper concentration (HP:0010836)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040281 - Very frequent		72
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive			45
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent		15
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent		38
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0011031	HP:0011031	Abnormality of iron homeostasis	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0011031	HP:0033212	Abnormal total iron binding capacity	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive			45
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA			115
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome			184
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0011031	HP:0033212	Abnormal total iron binding capacity	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III			1
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0011031	HP:0033212	Abnormal total iron binding capacity	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0011031	HP:0033212	Abnormal total iron binding capacity	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0011031	HP:0033212	Abnormal total iron binding capacity	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0011031	HP:0040135	Abnormal transferrin saturation	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0011031	HP:0040130	Abnormal serum iron concentration	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0011031	HP:0033211	Decreased total iron binding capacity	2	CL E G H
HP:0011031	HP:0025196	Increased total iron binding capacity	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0011031	HP:0012464	Decreased transferrin saturation	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0011031	HP:0003452	Increased serum iron	2	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0011031	HP:0003452	Increased serum iron	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0011031	HP:0012463	Elevated transferrin saturation	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent
HP:0011031	HP:0040303	Decreased serum iron	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive			45
HP:0011031	HP:0040303	Decreased serum iron	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent		263
HP:0011031	HP:0040303	Decreased serum iron	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0011031	HP:0040303	Decreased serum iron	2	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.		115
HP:0011031	HP:0040303	Decreased serum iron	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional		184
HP:0011031	HP:0012463	Elevated transferrin saturation	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent		15
HP:0011031	HP:0012463	Elevated transferrin saturation	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0011031	HP:0003452	Increased serum iron	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0011031	HP:0003452	Increased serum iron	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0011031	HP:0012463	Elevated transferrin saturation	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent		38
HP:0011031	HP:0012463	Elevated transferrin saturation	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0011031	HP:0003452	Increased serum iron	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0011031	HP:0025196	Increased total iron binding capacity	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0011031	HP:0003452	Increased serum iron	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent		1
HP:0011031	HP:0040303	Decreased serum iron	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent		46
HP:0011031	HP:0003452	Increased serum iron	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0011031	HP:0012463	Elevated transferrin saturation	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040283 - Occasional		51
HP:0011031	HP:0025196	Increased total iron binding capacity	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0011031	HP:0003452	Increased serum iron	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040282 - Frequent
HP:0011031	HP:0040303	Decreased serum iron	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	HP:0040283 - Occasional
HP:0011031	HP:0003452	Increased serum iron	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.	HP:0003577 - Congenital onset
HP:0011031	HP:0012463	Elevated transferrin saturation	2	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory			41
HP:0011031	HP:0025196	Increased total iron binding capacity	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional		42
HP:0011031	HP:0025196	Increased total iron binding capacity	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0011031	HP:0012463	Elevated transferrin saturation	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0011031	HP:0012463	Elevated transferrin saturation	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0011031	HP:0012464	Decreased transferrin saturation	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent		1
HP:0011031	HP:0003452	Increased serum iron	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0011031	HP:0003452	Increased serum iron	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67
HP:0011031	HP:0012463	Elevated transferrin saturation	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0011031	HP:0040303	Decreased serum iron	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28

Genes (25) :ABCD3 ALAS2 BCS1L BMP2 BMP6 CARD9 COL7A1 CP FOXP1 HAMP HBB HFE HJV KIF23 PIGA PKLR RACGAP1 SKIC2 SKIC3 SLC25A38 SLC30A10 SLC40A1 STEAP3 TFR2 TRNT1

Diseases (31) :OMIM:616278 ORPHA:75563 ORPHA:53693 OMIM:603358 OMIM:235200 ORPHA:465508 OMIM:212050 ORPHA:89842 ORPHA:48818 OMIM:604290 ORPHA:391372 ORPHA:79230 OMIM:613313 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:602390 ORPHA:98870 ORPHA:447 ORPHA:766 ORPHA:84064 OMIM:614602 OMIM:222470 OMIM:205950 ORPHA:309854 OMIM:613280 OMIM:606069 OMIM:615234 ORPHA:300298 OMIM:604250 OMIM:616959

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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