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 erythrocyte morphology (HP:0001877)

Parent Node:
Abnormal hemoglobin (HP:0011902)

..Starting node
..Imbalanced hemoglobin synthesis (HP:0005560)

Term ID:

5560

Name:

Imbalanced hemoglobin synthesis

Synonym:

Imbalanced haemoglobin synthesis; Imbalanced Hb synthesis

Definition:

Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.

Comments:

Reference:

HP:0005560

Genes and Diseases:

Child Nodes:

........

Reduced beta/alpha synthesis ratio (HP:0011906)

........

Reduced alpha/beta synthesis ratio (HP:0011907)

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)

Increased HbA2 hemoglobin (HP:0045048)

Methemoglobinemia (HP:0012119)

Persistence of hemoglobin F (HP:0011904)

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:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA		200
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease		200
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA		88
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease		88
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA		580
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA		580
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0005560	HP:0005560	Imbalanced hemoglobin synthesis	0	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA		1
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	ATRX CL E G H	546	886	OMIM:300448	ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS		169
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBA1 CL E G H	3039	4823	OMIM:604131	ALPHA-THALASSEMIA	.	200
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.	200
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBA2 CL E G H	3040	4824	OMIM:604131	ALPHA-THALASSEMIA	.	88
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.	88
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBB CL E G H	3043	4827	OMIM:604131	ALPHA-THALASSEMIA	.	580
HP:0005560	HP:0011906	Reduced beta/alpha synthesis ratio	1	HBB CL E G H	3043	4827	OMIM:613985	BETA-THALASSEMIA	.	580
HP:0005560	HP:0011906	Reduced beta/alpha synthesis ratio	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0005560	HP:0011907	Reduced alpha/beta synthesis ratio	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0005560	HP:0011906	Reduced beta/alpha synthesis ratio	1	HBB-LCR CL E G H	109580095		OMIM:613985	BETA-THALASSEMIA	.	1

Genes (5) :ATRX HBA1 HBA2 HBB HBB-LCR

Diseases (6) :OMIM:300448 OMIM:301040 OMIM:604131 OMIM:613978 OMIM:613985 ORPHA:90039

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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