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:
Anemia (HP:0001903)

Parent Node:
Anemia of inadequate production (HP:0010972)

..Starting node
..Sideroblastic anemia (HP:0001924)

Term ID:

1924

Name:

Sideroblastic anemia

Synonym:

Hypersideremic anaemia; Hypersideremic anemia; Sideroblastic anaemia

Definition:

Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).

Comments:

Reference:

HP:0001924

Genes and Diseases:

Child Nodes:

........

Refractory sideroblastic anemia (HP:0004864)

........

Pyridoxine-responsive sideroblastic anemia (HP:0005522)

Sister Nodes:

Hypochromic anemia (HP:0001931)

Hypoplastic anemia (HP:0001908)

Macrocytic anemia (HP:0001972)

Microcytic anemia (HP:0001935)

Normochromic anemia (HP:0001895)

Normocytic anemia (HP:0001897)

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:0001924	HP:0001924	Sideroblastic anemia	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001924	HP:0001924	Sideroblastic anemia	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0001924	HP:0001924	Sideroblastic anemia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia		5769
HP:0001924	HP:0001924	Sideroblastic anemia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia		7642
HP:0001924	HP:0001924	Sideroblastic anemia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia		1086
HP:0001924	HP:0001924	Sideroblastic anemia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia		158
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia		340
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia		58
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia		410
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia		147
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia		73
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia		87
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia		73
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia		157
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia		53
HP:0001924	HP:0001924	Sideroblastic anemia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia		107
HP:0001924	HP:0001924	Sideroblastic anemia	0	HSPA9 CL E G H	3313	5244	OMIM:182170	ANEMIA, SIDEROBLASTIC, 4; SIDBA4		6
HP:0001924	HP:0001924	Sideroblastic anemia	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0001924	HP:0001924	Sideroblastic anemia	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001924	HP:0001924	Sideroblastic anemia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia		1
HP:0001924	HP:0001924	Sideroblastic anemia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia		1349
HP:0001924	HP:0001924	Sideroblastic anemia	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures		92
HP:0001924	HP:0001924	Sideroblastic anemia	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0001924	HP:0001924	Sideroblastic anemia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia		9
HP:0001924	HP:0001924	Sideroblastic anemia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia		391
HP:0001924	HP:0001924	Sideroblastic anemia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001924	HP:0001924	Sideroblastic anemia	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.	55
HP:0001924	HP:0001924	Sideroblastic anemia	0	SLC25A38 CL E G H	54977	26054	OMIM:205950	Anemia, sideroblastic, 2, pyridoxine-refractory		41
HP:0001924	HP:0001924	Sideroblastic anemia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia		274
HP:0001924	HP:0001924	Sideroblastic anemia	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28
HP:0001924	HP:0001924	Sideroblastic anemia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia		2
HP:0001924	HP:0001924	Sideroblastic anemia	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.	389
HP:0001924	HP:0001924	Sideroblastic anemia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia		125
HP:0001924	HP:0001924	Sideroblastic anemia	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.	45
HP:0001924	HP:0004864	Refractory sideroblastic anemia	1	CL E G H
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	5769
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	7642
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1086
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	158
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	340
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	58
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	410
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	147
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	87
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	73
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	157
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	53
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	107
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	1349
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040283 - Occasional	92
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	9
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	391
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	274
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	2
HP:0001924	HP:0005522	Pyridoxine-responsive sideroblastic anemia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040281 - Very frequent	125

Genes (34) :ABCB7 ALAS2 BRCA1 BRCA2 BRIP1 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM HSPA9 ISCU LARS2 MAD2L2 PALB2 PNPO PUS1 RAD51 RAD51C RFWD3 SLC19A2 SLC25A38 SLX4 TRNT1 UBE2T WFS1 XRCC2 YARS2

Diseases (13) :OMIM:301310 OMIM:300751 ORPHA:84 OMIM:182170 OMIM:255125 OMIM:617021 ORPHA:79096 OMIM:600462 OMIM:249270 OMIM:205950 OMIM:616084 OMIM:222300 OMIM:613561

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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