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:
Anemia of inadequate production (HP:0010972)

Parent Node:
Hypochromic anemia (HP:0001931)

Parent Node:
Microcytic anemia (HP:0001935)

..Starting node
..Hypochromic microcytic anemia (HP:0004840)

Term ID:

4840

Name:

Hypochromic microcytic anemia

Synonym:

Hypochromic microcytic anaemia; Hypochromic, microcytic anaemia; Hypochromic, microcytic anemia

Definition:

A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.

Comments:

Reference:

HP:0004840

Genes and Diseases:

Child Nodes:

Sister Nodes:

Normochromic microcytic anemia (HP:0004856)

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:0004840	HP:0004840	Hypochromic microcytic anemia	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	ALAS2 CL E G H	212	397	OMIM:300751	Anemia, sideroblastic, X-linked	.	72
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040281 - Very frequent	115
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040282 - Frequent	25
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.	200
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.	88
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.	580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.	580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040281 - Very frequent	580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent	580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040281 - Very frequent	580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.	1
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	HSCB CL E G H	150274	28913	OMIM:619523	ANEMIA, SIDEROBLASTIC, 5; SIDBA5
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent	186
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	TMPRSS6 CL E G H	164656	16517	OMIM:206200	IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA		65
HP:0004840	HP:0004840	Hypochromic microcytic anemia	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD		28

Genes (23) :ABCB7 ALAS2 ATRX BCL11A C2ORF69 CARD10 CP DNAJC19 HBA1 HBA2 HBB HBB-LCR HBG1 HBG2 HSCB KARS1 KLF1 LPIN2 OSTM1 SHPK TAFAZZIN TMPRSS6 TRNT1

Diseases (22) :OMIM:301310 OMIM:300751 OMIM:300448 OMIM:301040 ORPHA:251380 OMIM:619423 OMIM:619632 ORPHA:48818 ORPHA:66634 OMIM:604131 OMIM:613985 ORPHA:231214 ORPHA:231226 ORPHA:2133 OMIM:619523 OMIM:619147 ORPHA:77297 OMIM:259720 ORPHA:440713 OMIM:302060 OMIM:206200 OMIM:616084

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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