Term ID: |
11273 |
Name: |
Anisocytosis |
Synonym: |
Unequal size of red blood cells |
Definition: |
Abnormally increased variability in the size of erythrocytes. |
Comments: |
|
Reference: |
HP:0011273 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Abnormal erythrocyte enzyme level (HP:0030272)
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..Abnormal hematocrit (HP:0031850)
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..Abnormal hemoglobin (HP:0011902)
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..Abnormal mean corpuscular volume (HP:0025065)
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..Abnormal number of erythroid precursors (HP:0012131)
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..Abnormal reticulocyte morphology (HP:0004312)
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..Anemia (HP:0001903)
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..Blood group antigen abnormality (HP:0010970)
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..Dysplastic erythropoesis (HP:0012134)
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..Increased hemoglobin oxygen affinity (HP:0004825)
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..Increased red cell osmotic fragility (HP:0005502)
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..Increased red cell osmotic resistance (HP:0005546)
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..Poikilocytosis (HP:0004447)
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..Polycythemia (HP:0001901)
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..Reduced erythrocyte 2,3-diphosphoglycerate concentration (HP:0030271)
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..Rouleaux formation (HP:0031898)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0011273 | HP:0011273 | Anisocytosis | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | | | | 32 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 118 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | . | | | 101 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:300835 | Anemia, X-linked, with or without neutropenia and/or platelet abnormalities | . | | | 29 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:67044 | Thrombocytopenia with congenital dyserythropoietic anemia | HP:0040281 - Very frequent | | | 29 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040282 - Frequent | | | 580 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040281 - Very frequent | | | 1 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040283 - Occasional | | | 51 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040281 - Very frequent | | | | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040283 - Occasional | | | 13 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 13 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 8 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040283 - Occasional | | | 16 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040283 - Occasional | | | | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | TMPRSS6 CL E G H | 164656 | 16517 | OMIM:206200 | IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA | | | | 65 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616959 | Retinitis pigmentosa and erythrocytic microcytosis | | | | 28 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | . | | | 135 | | | HP:0011273 | HP:0011273 | Anisocytosis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
Genes (21) :ATPAF2 CASK CDAN1 CDIN1 G6PD GATA1 GLRX5 HBB KIF23 KLF1 NHLRC2 PKLR RACGAP1 RHAG RHCE RHD RPS14 TMPRSS6 TRNT1 UMPS UROS
Diseases (19) :OMIM:604273 OMIM:300908 OMIM:224120 OMIM:615631 OMIM:300835 ORPHA:79277 ORPHA:67044 OMIM:616860 ORPHA:231226 ORPHA:98870 OMIM:613673 OMIM:618278 ORPHA:766 ORPHA:3203 ORPHA:71275 ORPHA:86841 OMIM:206200 OMIM:616959 OMIM:258900 |
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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