Term ID: 40217
Name: Elevated hemoglobin A1c
Synonym: Elevated glycated haemoglobin; Elevated glycated hemoglobin; Elevated glycosylated haemoglobin; Elevated glycosylated hemoglobin; Elevated haemoglobin A1c; Elevated HbA1c; Increased HbA1c levels
Definition: An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Comments:
Reference: HP:0040217
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal mean corpuscular hemoglobin concentration (HP:0025546) ..HbH hemoglobin (HP:0011903) ..HbS hemoglobin (HP:0045047) ..Hemoglobin Barts (HP:0005507) ..Imbalanced hemoglobin synthesis (HP:0005560) ..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 Onset HGMD variants ClinVar variants HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 ABCC8 CL E G H 6833 59 ORPHA:79134 DEND syndrome HP:0040281 - Very frequent 245 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 ABCC8 CL E G H 6833 59 ORPHA:552 MODY HP:0040282 - Frequent 245 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 APPL1 CL E G H 26060 24035 ORPHA:552 MODY HP:0040282 - Frequent 2 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 BLK CL E G H 640 1057 ORPHA:552 MODY HP:0040282 - Frequent 75 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 BLM CL E G H 641 1058 OMIM:210900 Bloom syndrome 314 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 BSCL2 CL E G H 26580 15832 OMIM:269700 Lipodystrophy, congenital generalized, type 2 105 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 CEL CL E G H 1056 1848 ORPHA:552 MODY HP:0040282 - Frequent 25 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 CELA2A CL E G H 63036 24609 OMIM:618620 ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 1 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 DNAJC3 CL E G H 5611 9439 OMIM:616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 3 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 GCK CL E G H 2645 4195 OMIM:606176 DIABETES MELLITUS, PERMANENT NEONATAL; PNDM 237 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 GCK CL E G H 2645 4195 ORPHA:552 MODY HP:0040282 - Frequent 237 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 HNF1A CL E G H 6927 11621 ORPHA:552 MODY HP:0040282 - Frequent 161 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 HNF4A CL E G H 3172 5024 ORPHA:552 MODY HP:0040282 - Frequent 138 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 INS CL E G H 3630 6081 OMIM:618858 DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4 62 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 INS CL E G H 3630 6081 ORPHA:552 MODY HP:0040282 - Frequent 62 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 KCNJ11 CL E G H 3767 6257 ORPHA:79134 DEND syndrome HP:0040281 - Very frequent 127 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 KCNJ11 CL E G H 3767 6257 OMIM:610582 Diabetes mellitus, transient neonatal, 3 . 127 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 KCNJ11 CL E G H 3767 6257 ORPHA:552 MODY HP:0040282 - Frequent 127 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 KLF11 CL E G H 8462 11811 ORPHA:552 MODY HP:0040282 - Frequent 78 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 MTX2 CL E G H 10651 7506 OMIM:619127 MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 NARS2 CL E G H 79731 26274 ORPHA:79134 DEND syndrome HP:0040281 - Very frequent 34 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 NEUROD1 CL E G H 4760 7762 ORPHA:552 MODY HP:0040282 - Frequent 32 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 NSMCE2 CL E G H 286053 26513 OMIM:617253 Seckel syndrome 10 . 2 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 PAX4 CL E G H 5078 8618 ORPHA:552 MODY HP:0040282 - Frequent 55 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 PDX1 CL E G H 3651 6107 ORPHA:552 MODY HP:0040282 - Frequent 30 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 TRMT5 CL E G H 57570 23141 OMIM:616539 Combined oxidative phosphorylation deficiency 26 4 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 WRN CL E G H 7486 12791 OMIM:277700 Werner syndrome 310 HP:0040217 HP:0040217 Elevated hemoglobin A1c 0 YIPF5 CL E G H 81555 24877 OMIM:619278 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
