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 erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal hemoglobin (HP:0011902)

..Starting node
..Persistence of hemoglobin F (HP:0011904)

Term ID:

11904

Name:

Persistence of hemoglobin F

Synonym:

Increased haemoglobin F; Increased hemoglobin F; Persistence of haemoglobin F; Persistence of HbF

Definition:

Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.

Comments:

Reference:

HP:0011904

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mean corpuscular hemoglobin concentration (HP:0025546)

Elevated hemoglobin A1c (HP:0040217)

HbH hemoglobin (HP:0011903)

HbS hemoglobin (HP:0045047)

Hemoglobin Barts (HP:0005507)

Imbalanced hemoglobin synthesis (HP:0005560)

Increased HbA2 hemoglobin (HP:0045048)

Methemoglobinemia (HP:0012119)

Reduced hemoglobin A (HP:0011905)

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:0011904	HP:0011904	Persistence of hemoglobin F	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.	5
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	29
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE		580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040281 - Very frequent	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG1 CL E G H	3047	4831	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	35
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	35
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG2 CL E G H	3048	4832	OMIM:141749	Fetal hemoglobin quantitative trait locus 1	.	50
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	50
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent	42
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6		1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	11
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	40
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6		40
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	26
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	5
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	42
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	22
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS24 CL E G H	6229	10411	OMIM:610629	Diamond-Blackfan anemia 3		22
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	3
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	20
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.	26
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040282 - Frequent	1
HP:0011904	HP:0011904	Persistence of hemoglobin F	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH

Genes (33) :ADA2 BCL11A DNAJC21 GATA1 HBB HBG1 HBG2 KLF1 MDM4 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 SBDS SRP54 TSR2 ZBTB7A

Diseases (15) :ORPHA:124 ORPHA:251380 OMIM:260400 ORPHA:231222 ORPHA:231214 OMIM:603902 ORPHA:231226 OMIM:141749 ORPHA:46532 ORPHA:232 OMIM:613673 OMIM:618849 OMIM:612561 OMIM:610629 OMIM:619769

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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