| Human Phenotype
Ontology
|
..Starting node
.. Abnormal circulating free T4 concentration (HP:0033076)
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| Term ID: |
33076 |
| Name: |
Abnormal circulating free T4 concentration |
| Synonym: |
Abnormal circulating free T4 level; Abnormal circulating free thyroxine level |
| Definition: |
A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects. |
| Comments: |
|
| Reference: |
HP:0033076 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: | | 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:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | | | | 3 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | | | | 161 | | | | HP:0033076 | HP:0033076 | Abnormal circulating free T4 concentration | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | | | HP:0033076 | HP:0033078 | Decreased circulating free T4 concentration | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | | | HP:0033076 | HP:0033078 | Decreased circulating free T4 concentration | 1 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | | | HP:0033076 | HP:0033077 | Increased circulating free T4 concentration | 1 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | | | HP:0033076 | HP:0033078 | Decreased circulating free T4 concentration | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | | | HP:0033076 | HP:0033078 | Decreased circulating free T4 concentration | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | | | HP:0033076 | HP:0033077 | Increased circulating free T4 concentration | 1 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | | | | 3 | | | | HP:0033076 | HP:0033078 | Decreased circulating free T4 concentration | 1 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | | | HP:0033076 | HP:0033077 | Increased circulating free T4 concentration | 1 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | | | | 161 | | | | HP:0033076 | HP:0033077 | Increased circulating free T4 concentration | 1 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
Genes (8) :CPE IRS4 KCNJ18 MADD POU1F1 SECISBP2 TBL1X THRB
Diseases (9) :OMIM:619326 OMIM:301035 OMIM:613239 OMIM:619004 OMIM:613038 OMIM:609698 OMIM:301033 OMIM:188570 OMIM:274300 |
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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