Human Phenotype Ontology 
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Abnormal erythrocyte morphology (HP:0001877)help
Parent Node:
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Abnormal reticulocyte morphology (HP:0004312)help
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Reticulocytosis (HP:0001923)help
Term ID: 1923
Name: Reticulocytosis
Synonym: Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes; Polychromasia
Definition: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Comments:
Reference: HP:0001923
Genes and Diseases:
 
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..expandReticulocytopenia (HP:0001896) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001923HP:0001923Reticulocytosis0ABCB6 CL E G H1005847ORPHA:90044Familial pseudohyperkalemiaHP:0040283 - Occasional20
HP:0001923HP:0001923Reticulocytosis0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0001923HP:0001923Reticulocytosis0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary.129
HP:0001923HP:0001923Reticulocytosis0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040282 - Frequent25
HP:0001923HP:0001923Reticulocytosis0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent150
HP:0001923HP:0001923Reticulocytosis0ANK1 CL E G H286492OMIM:182900Spherocytosis, type 1.150
HP:0001923HP:0001923Reticulocytosis0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0001923HP:0001923Reticulocytosis0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency118
HP:0001923HP:0001923Reticulocytosis0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional87
HP:0001923HP:0001923Reticulocytosis0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0001923HP:0001923Reticulocytosis0CDIN1 CL E G H8452926929OMIM:615631Anemia, congenital dyserythropoietic, type Ib.
HP:0001923HP:0001923Reticulocytosis0CFH CL E G H30754883OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.86
HP:0001923HP:0001923Reticulocytosis0CFHR1 CL E G H30784888OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001923HP:0001923Reticulocytosis0CFHR3 CL E G H1087816980OMIM:235400Hemolytic uremic syndrome, atypical, susceptibility to, 1.
HP:0001923HP:0001923Reticulocytosis0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0001923HP:0001923Reticulocytosis0CPOX CL E G H13712321OMIM:618892Harderoporphyria.72
HP:0001923HP:0001923Reticulocytosis0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040282 - Frequent273
HP:0001923HP:0001923Reticulocytosis0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional6
HP:0001923HP:0001923Reticulocytosis0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent51
HP:0001923HP:0001923Reticulocytosis0EPB42 CL E G H20383381OMIM:612690SPHEROCYTOSIS, TYPE 5; SPH551
HP:0001923HP:0001923Reticulocytosis0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional59
HP:0001923HP:0001923Reticulocytosis0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional37
HP:0001923HP:0001923Reticulocytosis0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency101
HP:0001923HP:0001923Reticulocytosis0GATA1 CL E G H26234170OMIM:30108329
HP:0001923HP:0001923Reticulocytosis0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0001923HP:0001923Reticulocytosis0GATA1 CL E G H26234170OMIM:314050Thrombocytopenia with beta-thalassemia, X-linked.29
HP:0001923HP:0001923Reticulocytosis0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001923HP:0001923Reticulocytosis0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional5
HP:0001923HP:0001923Reticulocytosis0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0001923HP:0001923Reticulocytosis0HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040282 - Frequent580
HP:0001923HP:0001923Reticulocytosis0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0001923HP:0001923Reticulocytosis0HBG2 CL E G H30484832OMIM:613977Cyanosis, transient neonatalHP:0040283 - Occasional50
HP:0001923HP:0001923Reticulocytosis0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0001923HP:0001923Reticulocytosis0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0001923HP:0001923Reticulocytosis0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent3
HP:0001923HP:0001923Reticulocytosis0KCNN4 CL E G H37836293OMIM:616689Dehydrated hereditary stomatocytosis 2.3
HP:0001923HP:0001923Reticulocytosis0KLF1 CL E G H106616345OMIM:613673Anemia, dyserythropoietic congenital, type IV.42
HP:0001923HP:0001923Reticulocytosis0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0001923HP:0001923Reticulocytosis0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0001923HP:0001923Reticulocytosis0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis.
HP:0001923HP:0001923Reticulocytosis0PFKM CL E G H52138877OMIM:232800Glycogen storage disease VII.64
HP:0001923HP:0001923Reticulocytosis0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0001923HP:0001923Reticulocytosis0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency.21
HP:0001923HP:0001923Reticulocytosis0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent36
HP:0001923HP:0001923Reticulocytosis0PIEZO1 CL E G H978028993OMIM:194380Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema.36
HP:0001923HP:0001923Reticulocytosis0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0001923HP:0001923Reticulocytosis0PKLR CL E G H53139020ORPHA:766Hemolytic anemia due to red cell pyruvate kinase deficiencyHP:0040281 - Very frequent51
HP:0001923HP:0001923Reticulocytosis0PKLR CL E G H53139020OMIM:266200Pyruvate kinase deficiency of red cells.51
HP:0001923HP:0001923Reticulocytosis0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional10
HP:0001923HP:0001923Reticulocytosis0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040283 - Occasional
HP:0001923HP:0001923Reticulocytosis0RHAG CL E G H600510006OMIM:185000Overhydrated hereditary stomatocytosis.13
HP:0001923HP:0001923Reticulocytosis0RHAG CL E G H600510006ORPHA:3203Overhydrated hereditary stomatocytosisHP:0040281 - Very frequent13
HP:0001923HP:0001923Reticulocytosis0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent13
HP:0001923HP:0001923Reticulocytosis0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent8
HP:0001923HP:0001923Reticulocytosis0RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040281 - Very frequent16
HP:0001923HP:0001923Reticulocytosis0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60
HP:0001923HP:0001923Reticulocytosis0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0001923HP:0001923Reticulocytosis0SLC4A1 CL E G H652111027OMIM:185020CRYOHYDROCYTOSIS.109
HP:0001923HP:0001923Reticulocytosis0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040282 - Frequent109
HP:0001923HP:0001923Reticulocytosis0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent109
HP:0001923HP:0001923Reticulocytosis0SLC4A1 CL E G H652111027OMIM:611590Renal tubular acidosis, distal, with hemolytic anemiaHP:0040283 - Occasional109
HP:0001923HP:0001923Reticulocytosis0SLC4A1 CL E G H652111027OMIM:612653Spherocytosis, type 4.109
HP:0001923HP:0001923Reticulocytosis0SPTA1 CL E G H670811272OMIM:130600Elliptocytosis 2228
HP:0001923HP:0001923Reticulocytosis0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional228
HP:0001923HP:0001923Reticulocytosis0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent228
HP:0001923HP:0001923Reticulocytosis0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040283 - Occasional156
HP:0001923HP:0001923Reticulocytosis0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040282 - Frequent156
HP:0001923HP:0001923Reticulocytosis0SPTB CL E G H671011274OMIM:616649SPHEROCYTOSIS, TYPE 2; SPH2156
HP:0001923HP:0001923Reticulocytosis0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41


Genes (48) :ABCB6 ABCG8 ADAMTS13 AMN ANK1 BCL11A CASK CASP10 CDAN1 CDIN1 CFH CFHR1 CFHR3 CLCN7 CPOX CUBN EPB41 EPB42 FAS FASLG G6PD GATA1 GCLC GYPC HBB HBG1 HBG2 HK1 KCNN4 KLF1 MTTP NHLRC2 PFKM PGK1 PIEZO1 PIGA PKLR PRKCD RASGRP1 RHAG RHCE RHD SEC23B SLC2A1 SLC4A1 SPTA1 SPTB UROS

Diseases (45) :ORPHA:90044 OMIM:210250 OMIM:274150 ORPHA:35858 ORPHA:822 OMIM:182900 ORPHA:251380 OMIM:300908 ORPHA:3261 OMIM:224120 OMIM:615631 OMIM:235400 OMIM:611490 OMIM:618892 ORPHA:288 OMIM:612690 OMIM:301083 ORPHA:79277 OMIM:314050 ORPHA:33574 ORPHA:232 OMIM:613977 OMIM:235700 ORPHA:3202 OMIM:616689 OMIM:613673 ORPHA:14 OMIM:618278 OMIM:232800 ORPHA:713 OMIM:300653 OMIM:194380 ORPHA:447 ORPHA:766 OMIM:266200 OMIM:185000 ORPHA:3203 ORPHA:71275 OMIM:224100 OMIM:612126 OMIM:185020 OMIM:611590 OMIM:612653 OMIM:130600 OMIM:616649
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.