Renal tubular dysfunction

Symptom Information:

Symptom ID: HPO:0000124
Synonyms:
Renal tubular defect [HPO:0000124]
Renal tubular disease [HPO:0000124]
Renal tubular disease [Orphanet:38120]
Renal tubular defect (disorder) [Orphanet:38120]
Renal tubular disorder (disorder) [Orphanet:38120]
Renal tubular disorder [Orphanet:38120]
Renal tubular defect [Orphanet:38120]
Renal tubular defect [OMIM:Renal tubular defect]
Renal tubular disease [OMIM:Renal tubular disease]
Renal tubular dysfunction [OMIM:Renal tubular dysfunction]
Renal tubular defect/tubulopathy [Orphanet:38120]
Renal tubular disorder [MedDRA:10038537]
Disorder tubular kidney [MedDRA:10038537]
Distal renal tubular dysfunction [MedDRA:10038537]
Kidney tubular disorder [MedDRA:10038537]
Kidney tubule disorder [MedDRA:10038537]
Nephropathy tubular [MedDRA:10038537]
Proximal renal tubular dysfunction [MedDRA:10038537]
Renal tubular disorder acute [MedDRA:10038537]
Renal tubular disorder NOS [MedDRA:10038537]
Renal tubular dysfunction [MedDRA:10038537]
Quality:
Cross references:
HPO:0011038 "Abnormality of renal resorption" [Orphanet:38120]
Orphanet:38120 "Renal tubular defect/tubulopathy" [Orphanet:38120]
OMIM: "Renal tubular defect" [OMIM:Renal tubular defect]
OMIM: "Renal tubular disease" [OMIM:Renal tubular disease]
OMIM: "Renal tubular dysfunction" [OMIM:Renal tubular dysfunction]
UMLS:C0151747 "Renal tubular disorder" [Orphanet:38120]
UMLS:C0268709 "Renal tubular defect" [Orphanet:38120]
Is a (Direct Parents):
MedDRA Nephropathies and tubular disorders NEC
Orphanet Nephropathy
HPO         Abnormal renal physiology
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 physiology(HPO:0012211)
                      Renal tubular dysfunction(HPO:0000124)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormal renal physiology(HPO:0012211)
                   Renal tubular dysfunction(HPO:0000124)
MedDRA:
Renal and urinary disorders(MedDRA:10038359)
    Nephropathy(HPO:0000112)
       Nephropathies and tubular disorders NEC(MedDRA:10029150)
          Renal tubular dysfunction(HPO:0000124)
Database Frequency: 46 / 7739
Resource:

All diseases associated with this symptom:

ALG8-CDG (Orphanet:79325)
Adult familial nephronophtisis - spastic quadriparesia (Orphanet:2666)
Alström syndrome (Orphanet:64)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
Carnitine palmitoyl transferase 1A deficiency (Orphanet:156)
Cataract - nephropathy - encephalopathy (Orphanet:1380)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Cystinosis (Orphanet:213)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
FANCONI RENOTUBULAR SYNDROME 2 (OMIM:613388)
FANCONI RENOTUBULAR SYNDROME 3 (OMIM:615605)
Fabry disease (Orphanet:324)
Fanconi renotubular syndrome 1 (OMIM:134600)
GRACILE syndrome (Orphanet:53693)
Glycogen storage disease due to GLUT2 deficiency (Orphanet:2088)
HOMOZYGOUS 11p15-p14 DELETION SYNDROME (OMIM:606528)
Hemorrhagic fever - renal syndrome (Orphanet:340)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Hereditary hypophosphatemic rickets with hypercalciuria (Orphanet:157215)
Indomethacin embryofetopathy (Orphanet:1909)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
MELAS (Orphanet:550)
Medullary sponge kidney (Orphanet:1309)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrorenal syndrome (Orphanet:534)
Osteopetrosis (Orphanet:2781)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) (OMIM:614886)
Pearson syndrome (Orphanet:699)
Polymyositis (Orphanet:732)
Primary Fanconi syndrome (Orphanet:3337)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Renal tubular dysgenesis (Orphanet:3033)
Senior-Loken syndrome (Orphanet:3156)
Systemic capillary leak syndrome (Orphanet:188)
Thyrocerebrorenal syndrome (Orphanet:3327)
Tubular renal disease-cardiomyopathy syndrome (Orphanet:73224)
Vici syndrome (Orphanet:1493)
Vitamin B12-unresponsive methylmalonic acidemia (Orphanet:27)
Vitamin B12-unresponsive methylmalonic acidemia type mut- (Orphanet:79312)
Vitamin B12-unresponsive methylmalonic acidemia type mut0 (Orphanet:289916)
Wilson disease (Orphanet:905)
X-linked hypophosphatemia (Orphanet:89936)