Proximal tubulopathy

Symptom Information:

Symptom ID: HPO:0000114
Synonyms:
Proximal renal tubule defect [HPO:0000114]
Proximal renal tubulopathy [HPO:0000114]
Proximal tubular defect [HPO:0000114]
Proximal tubule dysfunction [HPO:0000114]
Selective proximal tubular damage [HPO:0000114]
Proximal renal tubule defect [OMIM:Proximal renal tubule defect]
Proximal renal tubulopathy [OMIM:Proximal renal tubulopathy]
Proximal tubular defect [OMIM:Proximal tubular defect]
Proximal tubulopathy [OMIM:Proximal tubulopathy]
Selective proximal tubular damage [OMIM:Selective proximal tubular damage]
Proximal tubulopathy (1 patient) [OMIM:Proximal tubulopathy (1 patient)]
Quality:
Cross references:
OMIM: "Proximal renal tubule defect" [OMIM:Proximal renal tubule defect]
OMIM: "Proximal renal tubulopathy" [OMIM:Proximal renal tubulopathy]
OMIM: "Proximal tubular defect" [OMIM:Proximal tubular defect]
OMIM: "Proximal tubulopathy" [OMIM:Proximal tubulopathy]
OMIM: "Selective proximal tubular damage" [OMIM:Selective proximal tubular damage]
OMIM: "Proximal tubulopathy (1 patient)" [OMIM:Proximal tubulopathy (1 patient)]
Is a (Direct Parents):
HPO         Abnormality of the renal tubule
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the upper urinary tract(HPO:0010935)
                Abnormality of the kidney(HPO:0000077)
                   Abnormal renal morphology(HPO:0012210)
                      Abnormality of the nephron(HPO:0012575)
                         Abnormality of the renal tubule(HPO:0000091)
                            Proximal tubulopathy(HPO:0000114)
MedDRA:
Database Frequency: 18 / 7739
Resource:

All diseases associated with this symptom:

Acyl-CoA dehydrogenase 9 deficiency (Orphanet:99901)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl (OMIM:614576)
Dent disease type 1 (Orphanet:93622)
Dent disease type 2 (Orphanet:93623)
FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY (OMIM:241150)
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Hereditary fructose intolerance (Orphanet:469)
MELAS (Orphanet:550)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy (Orphanet:255235)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
PMM2-CDG (Orphanet:79318)
PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Primary Fanconi syndrome (Orphanet:3337)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)