| Term ID: |
4719 |
| Name: |
Hyperechogenic kidneys |
| Synonym: |
Echogenic kidneys; Increased echogenicity of the renal parenchyma |
| Definition: |
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. |
| Comments: |
|
| Reference: |
HP:0004719 |
| Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
.. Abnormal localization of kidney (HP:0100542) 
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..Abnormal nephron morphology (HP:0012575)
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..Abnormal renal artery morphology (HP:0008776)
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..Abnormal renal calyx morphology (HP:0011130)
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..Abnormal renal collecting system morphology (HP:0004742)
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..Abnormal renal cortex morphology (HP:0011035)
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..Abnormal renal medulla morphology (HP:0100957)
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..Abnormal renal pelvis morphology (HP:0010944)
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..Decreased renal parenchymal thickness (HP:0025327)
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..Enlarged kidney (HP:0000105)
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..Nephrocalcinosis (HP:0000121)
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..Nephrogenic rest (HP:0100880)
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..Nephrolithiasis (HP:0000787)
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..Nephrosclerosis (HP:0009741)
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..Perinephric fluid collection (HP:0031226)
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..Perirenal hematoma (HP:0030171)
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..Renal amyloidosis (HP:0001917)
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..Renal atrophy (HP:0012585)
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..Renal cyst (HP:0000107)
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..Renal duplication (HP:0000075)
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..Renal dysplasia (HP:0000110)
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..Renal fibrosis (HP:0030760)
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..Renal hypoplasia/aplasia (HP:0008678)
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..Renal malrotation (HP:0004712)
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..Renal steatosis (HP:0000799)
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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:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | BICC1 CL E G H | 80114 | 19351 | OMIM:601331 | Renal dysplasia, cystic, susceptibility to | . | | | 5 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | DZIP1L CL E G H | 199221 | 26551 | OMIM:617610 | Polycystic kidney disease 5 | . | | | 4 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | IFT43 CL E G H | 112752 | 29669 | OMIM:617866 | SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18 | | | | 11 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | KIF14 CL E G H | 9928 | 19181 | OMIM:617914 | Microcephaly 20, primary, autosomal recessive | HP:0040284 - Very rare | | | 9 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | MYOCD CL E G H | 93649 | 16067 | OMIM:618719 | MEGABLADDER, CONGENITAL; MGBL | | | | 3 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | PBX1 CL E G H | 5087 | 8632 | OMIM:617641 | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | . | | | 3 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | PDCD6IP CL E G H | 10015 | 8766 | OMIM:620047 | | | | | | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | PKHD1 CL E G H | 5314 | 9016 | OMIM:263200 | Polycystic kidney disease 4 with or without polycystic liver disease | | | | 563 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | . | | | 25 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | | | | 5 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | TULP3 CL E G H | 7289 | 12425 | OMIM:619902 | | | | | | | | | HP:0004719 | HP:0004719 | Hyperechogenic kidneys | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
Genes (29) :BICC1 CC2D2A CILK1 COG6 CSPP1 DCDC2 DZIP1L FOCAD IFT43 INVS KIAA0586 KIF14 LAMB2 MYOCD NSD2 PBX1 PDCD6IP PIGY PKHD1 REN RNU7-1 SARS2 SLC30A9 TBX18 TCTN2 TMEM67 TTC26 TULP3 XPNPEP3
Diseases (28) :OMIM:601331 OMIM:619111 OMIM:612651 OMIM:614576 OMIM:615636 ORPHA:397715 ORPHA:84081 OMIM:617610 OMIM:619991 OMIM:617866 OMIM:602088 OMIM:617914 OMIM:609049 OMIM:618719 OMIM:619695 OMIM:617641 OMIM:620047 OMIM:616809 OMIM:263200 OMIM:613092 OMIM:619487 OMIM:613845 OMIM:617595 OMIM:143400 OMIM:613885 OMIM:619534 OMIM:619902 OMIM:613159 |
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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