Polycystic kidney dysplasia

Symptom Information:

Symptom ID: HPO:0000113
Synonyms:
Enlarged polycystic kidneys [HPO:0000113]
Polycystic kidney disease [HPO:0000113]
Polycystic kidneys [HPO:0000113]
Polycystic kidneys [Orphanet:37240]
Polycystic kidney disease [Orphanet:37200]
Renal dysplasia [Orphanet:37200]
Polycystic kidney disease [Orphanet:37240]
Multicystic kidney (disorder) [Orphanet:37240]
Renal dysplasia (disorder) [Orphanet:37200]
Multicystic Dysplastic Kidney [Orphanet:37240]
Polycystic Kidney Diseases [Orphanet:37240]
Cystic kidney [Orphanet:37200]
Polycystic Kidney Diseases [Orphanet:37200]
Polycystic kidney disease [OMIM:Polycystic kidney disease]
Polycystic kidney dysplasia [OMIM:Polycystic kidney dysplasia]
Polycystic kidneys [OMIM:Polycystic kidneys]
Multicystic kidney/renal dysplasia [Orphanet:37200]
Polycystic kidney, unspecified type [Orphanet:37240]
Polycystic kidney [Orphanet:37200]
Kidney polycystic [Orphanet:37200]
Polycystic kidney, unspecified type [Orphanet:37200]
Congenital cystic kidney disease [MedDRA:10010428]
Cystic kidney disease [MedDRA:10010428]
Cystic kidney disease, unspecified [MedDRA:10010428]
Kidney polycystic [MedDRA:10010428]
Medullary cystic disease [MedDRA:10010428]
Medullary cystic kidney [MedDRA:10010428]
Medullary sponge kidney [MedDRA:10010428]
Other specified cystic kidney disease [MedDRA:10010428]
Polycystic kidney [MedDRA:10010428]
Polycystic kidney, autosomal dominant [MedDRA:10010428]
Polycystic kidney, autosomal recessive [MedDRA:10010428]
Polycystic kidney, unspecified type [MedDRA:10010428]
Uraemic medullary cystic disease [MedDRA:10010428]
Nephronophthisis [MedDRA:10010428]
Polycystic hepatorenal disease [MedDRA:10010428]
Renal dysplasia [MedDRA:10038433]
Cell dysplasia kidney [MedDRA:10038433]
Congenital renal dysplasia NOS [MedDRA:10038433]
Cystic kidney [OMIM:Cystic kidney]
Cystic kidneys [OMIM:Cystic kidneys]
Cystic kidneys (rare) [OMIM:Cystic kidneys (rare)]
Enlarged polycystic kidneys (detectable prenatally) [OMIM:Enlarged polycystic kidneys (detectable prenatally)]
Medullary sponge kidney (rare) [OMIM:Medullary sponge kidney (rare)]
Multicystic dysplastic kidneys [OMIM:Multicystic dysplastic kidneys]
Multicystic dysplastic kidneys (prenatal onset) [OMIM:Multicystic dysplastic kidneys (prenatal onset)]
Multicystic kidney (rare, in males) [OMIM:Multicystic kidney (rare, in males)]
Nephronophthisis (1 patient) [OMIM:Nephronophthisis (1 patient)]
Nephronophthisis (less common) [OMIM:Nephronophthisis (less common)]
Nephronophthisis (rare) [OMIM:Nephronophthisis (rare)]
Polycystic kidney [OMIM:Polycystic kidney]
Renal dysplasia (WWS) [OMIM:Renal dysplasia (WWS)]
Quality:
Cross references:
HPO:0000800 "Cystic renal dysplasia" [Orphanet:37200]
HPO:0000003 "Multicystic kidney dysplasia" [Orphanet:37200]
HPO:0000110 "Renal dysplasia" [Orphanet:37200]
Orphanet:37240 "Polycystic kidneys" [Orphanet:37240]
Orphanet:37200 "Multicystic kidney/renal dysplasia" [Orphanet:37200]
OMIM: "Polycystic kidney disease" [OMIM:Polycystic kidney disease]
OMIM: "Polycystic kidney dysplasia" [OMIM:Polycystic kidney dysplasia]
OMIM: "Polycystic kidneys" [OMIM:Polycystic kidneys]
OMIM: "Cystic kidney" [OMIM:Cystic kidney]
OMIM: "Cystic kidneys" [OMIM:Cystic kidneys]
OMIM: "Cystic kidneys (rare)" [OMIM:Cystic kidneys (rare)]
OMIM: "Enlarged polycystic kidneys (detectable prenatally)" [OMIM:Enlarged polycystic kidneys (detectable prenatally)]
OMIM: "Medullary sponge kidney (rare)" [OMIM:Medullary sponge kidney (rare)]
OMIM: "Multicystic dysplastic kidneys" [OMIM:Multicystic dysplastic kidneys]
OMIM: "Multicystic dysplastic kidneys (prenatal onset)" [OMIM:Multicystic dysplastic kidneys (prenatal onset)]
OMIM: "Multicystic kidney (rare, in males)" [OMIM:Multicystic kidney (rare, in males)]
OMIM: "Nephronophthisis (1 patient)" [OMIM:Nephronophthisis (1 patient)]
OMIM: "Nephronophthisis (less common)" [OMIM:Nephronophthisis (less common)]
OMIM: "Nephronophthisis (rare)" [OMIM:Nephronophthisis (rare)]
OMIM: "Polycystic kidney" [OMIM:Polycystic kidney]
OMIM: "Renal dysplasia (WWS)" [OMIM:Renal dysplasia (WWS)]
UMLS:C0345335 "Multicystic Dysplastic Kidney" [Orphanet:37240]
UMLS:C0022680 "Polycystic Kidney Diseases" [Orphanet:37240]
UMLS:C0022679 "Cystic kidney" [Orphanet:37200]
UMLS:C0022680 "Polycystic Kidney Diseases" [Orphanet:37200]
Is a (Direct Parents):
MedDRA Renal structural abnormalities and trauma
HPO         Renal cyst
MedDRA Renal neoplasm
Orphanet Multicystic kidney dysplasia
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)
                      Renal cyst(HPO:0000107)
                         Polycystic kidney dysplasia(HPO:0000113)
MedDRA:
Renal and urinary disorders(MedDRA:10038359)
    Nephropathy(HPO:0000112)
       Renal neoplasm(HPO:0009726)
          Polycystic kidney dysplasia(HPO:0000113)
       Renal structural abnormalities and trauma(MedDRA:10038529)
          Polycystic kidney dysplasia(HPO:0000113)
Neoplasms benign, malignant and unspecified (incl cysts and polyps)(MedDRA:10029104)
    Renal and urinary tract neoplasms malignant and unspecified(MedDRA:10038364)
       Urinary tract neoplasms unspecified malignancy NEC(MedDRA:10046586)
          Renal neoplasm(HPO:0009726)
             Polycystic kidney dysplasia(HPO:0000113)
Database Frequency: 75 / 7739
Resource:

All diseases associated with this symptom:

17q12 microdeletion syndrome (Orphanet:261265)
22q11.2 deletion syndrome (Orphanet:567)
ARIMA SYNDROME (OMIM:243910)
Acro-renal-mandibular syndrome (Orphanet:958)
Acroosteolysis, dominant type (Orphanet:955)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (Orphanet:88924)
Autosomal recessive polycystic kidney disease (Orphanet:731)
BOR syndrome (Orphanet:107)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Bardet-Biedl syndrome (Orphanet:110)
Beckwith-Wiedemann syndrome (Orphanet:116)
Branchio-oculo-facial syndrome (Orphanet:1297)
Campomelia, Cumming type (Orphanet:1318)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Cerebro-reno-digital syndrome (Orphanet:1396)
Congenital unilateral hypoplasia of depressor anguli oris (Orphanet:1166)
Diabetic embryopathy (Orphanet:1926)
Diaphanospondylodysostosis (Orphanet:66637)
FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
Femoral-facial syndrome (Orphanet:1988)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
Hyperparathyroidism - jaw tumor syndrome (Orphanet:99880)
Isolated polycystic liver disease (Orphanet:2924)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Lymphangioleiomyomatosis (Orphanet:538)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
McKusick-Kaufman syndrome (Orphanet:2473)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 11 (OMIM:615397)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 22q13 (Orphanet:48652)
Mosaic trisomy 9 (Orphanet:99776)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Nephronophthisis 14 (OMIM:614844)
Nephronophthisis 16 (OMIM:615382)
Oculocerebrorenal syndrome (Orphanet:534)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
POLYCYSTIC KIDNEY DISEASE 1 (OMIM:173900)
POLYCYSTIC KIDNEY DISEASE 2 (OMIM:613095)
POLYCYSTIC KIDNEY DISEASE 3, AUTOSOMAL DOMINANT (OMIM:600666)
POLYCYSTIC KIDNEY DISEASE, POTTER TYPE I, WITH MICROBRACHYCEPHALY,HYPERTELORISM, AND BRACHYMELIA (OMIM:263210)
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS (OMIM:263100)
ROBERTS SYNDROME (OMIM:268300)
Renal coloboma syndrome (Orphanet:1475)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renal tubular dysgenesis (Orphanet:3033)
Renal-hepatic-pancreatic dysplasia (Orphanet:294415)
Roberts syndrome (Orphanet:3103)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
Senior-Loken syndrome (Orphanet:3156)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short rib-polydactyly syndrome, Saldino-Noonan type (Orphanet:93270)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 1 with or without polydactyly (OMIM:208500)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
Short-rib thoracic dysplasia 7 with or without polydactyly (OMIM:614091)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Spondylocarpotarsal synostosis (Orphanet:3275)
Tetrasomy 12p (Orphanet:884)
Trisomy 13 (Orphanet:3378)
Trisomy 20p (Orphanet:261318)
Tuberous sclerosis (Orphanet:805)
Von Hippel-Lindau disease (Orphanet:892)
Williams syndrome (Orphanet:904)