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 circulating ferritin concentration (HP:0040133)

Term ID:

40133

Name:

Abnormal circulating ferritin concentration

Synonym:

Abnormal plasma ferritin; Abnormal serum ferritin

Definition:

A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.

Comments:

Reference:

HP:0040133

Genes and Diseases:

Child Nodes:

........

Increased serum ferritin (HP:0003281)

........

Decreased serum ferritin (HP:0012343)

Sister Nodes:

Abnormal hepatic iron concentration (HP:0040134)

Abnormal serum iron concentration (HP:0040130)

Abnormal transferrin saturation (HP:0040135)

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:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome		72
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1		13
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA		115
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria		72
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTH1 CL E G H	2495	3976	OMIM:615517	Hemochromatosis, type 5		11
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload		33
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract		33
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome		14
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2		15
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome		580
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1		38
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema		36
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency		51
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1		57
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4		56
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2		1
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts		1
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0040133	HP:0040133	Abnormal circulating ferritin concentration	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent	72
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME		72
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040281 - Very frequent	115
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	CP CL E G H	1356	2295	OMIM:604290	ACERULOPLASMINEMIA	.	115
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.	72
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	FTH1 CL E G H	2495	3976	OMIM:615517	Hemochromatosis, type 5	.	11
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040280 - Obligate	33
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	FTL CL E G H	2512	3999	OMIM:600886	Hyperferritinemia with or without cataract		33
HP:0040133	HP:0012343	Decreased circulating ferritin concentration	1	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0040133	HP:0012343	Decreased circulating ferritin concentration	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0040133	HP:0012343	Decreased circulating ferritin concentration	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040281 - Very frequent	33
HP:0040133	HP:0012343	Decreased circulating ferritin concentration	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent	15
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B		15
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HBB CL E G H	3043	4827	ORPHA:231249	Hemoglobin E-beta-thalassemia syndrome	HP:0040282 - Frequent	580
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040281 - Very frequent	38
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	HP:0040283 - Occasional	36
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent	51
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	58
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory	.	41
HP:0040133	HP:0012343	Decreased circulating ferritin concentration	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040281 - Very frequent	56
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4		56
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.	1
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040281 - Very frequent	1
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	85
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	70
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3		67
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040281 - Very frequent	116
HP:0040133	HP:0003281	Increased circulating ferritin concentration	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81

Genes (42) :BCS1L BMP2 BMP6 CP CPOX FOCAD FTH1 FTL GFER GLRX5 HAMP HAVCR2 HBB HFE HJV HMOX1 IFIH1 IFNG ITK KCNN4 LYST MCM10 NLRC4 PIEZO1 PIK3CG PKLR PRF1 PUS1 SLC19A1 SLC25A38 SLC30A10 SLC40A1 SLC4A1 SLC7A7 STAT2 STEAP3 STX11 STXBP2 TFR2 TTC26 UNC13D XIAP

Diseases (50) :ORPHA:53693 OMIM:603358 OMIM:235200 ORPHA:465508 ORPHA:48818 OMIM:604290 OMIM:618892 OMIM:619991 OMIM:615517 ORPHA:254704 OMIM:600886 OMIM:615604 OMIM:606159 ORPHA:157846 ORPHA:330054 OMIM:616860 ORPHA:79230 OMIM:613313 OMIM:618398 ORPHA:231249 OMIM:602390 OMIM:614034 OMIM:615846 OMIM:618963 OMIM:613011 ORPHA:3202 ORPHA:167 OMIM:619313 OMIM:616050 OMIM:194380 OMIM:619802 ORPHA:766 ORPHA:540 OMIM:603553 OMIM:600462 OMIM:601775 OMIM:205950 ORPHA:309854 ORPHA:139491 OMIM:606069 ORPHA:470 OMIM:222700 OMIM:618886 OMIM:615234 ORPHA:300298 OMIM:603552 OMIM:613101 OMIM:604250 OMIM:619534 OMIM:300635

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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