PedAM

Pediatric Disease Annotations & Medicines


	nephronophthisis

Disease ID	203
Disease	nephronophthisis
Definition	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. [Eurenomics:fschaefer]
Synonym	autosomal recessive medullary cystic disease cystic disease medullary cystic kidneys medullary juvenile nephronophthisis medullary cystic disease medullary cystic disease nos medullary cystic disease nos (disorder) medullary cystic kidney medullary cystic kidney disease nephronophthisis (disorder) nephronopthisis nephronopthisis, familial juvenile
Orphanet	ORPHANET:655 ORPHANET:93592
DOID	DOID:12712
ICD10	ICD10CM:Q61.5
UMLS	C0687120
SNOMED-CT	SNOMEDCT_US_2016_09_01:204958008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0022658 \| renal disease \| 2 C0035304 \| retinal degeneration \| 2 C0035334 \| retinitis pigmentosa \| 2 C0022661 \| end-stage renal disease \| 2 C0022658 \| nephropathies \| 1 C0035333 \| retinitis \| 1 C0431399 \| joubert syndrome \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0022679 \| cystic kidney \| 1 C0271270 \| oculomotor apraxia \| 1 C0003635 \| apraxia \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0035078 \| renal failure \| 1 C0022658 \| kidney disease \| 1 C0035309 \| retinopathy \| 1 C0085113 \| neurofibromatosis \| 1 C0022661 \| end-stage renal failure \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) WDR19 \| 57728 \| ORPHANET;GHR;UniProtKB-KW CEP290 \| 80184 \| UniProtKB-KW NPHP4 \| 261734 \| ORPHANET;GHR;UniProtKB-KW SDCCAG8 \| 10806 \| UniProtKB-KW TMEM67 \| 91147 \| UniProtKB-KW;GHR TRAF3IP1 \| 26146 \| UniProtKB-KW INVS \| 27130 \| UniProtKB-KW;GHR MAPKBP1 \| 23005 \| UniProtKB-KW TTC21B \| 79809 \| UniProtKB-KW;GHR UMOD \| 7369 \| UniProtKB-KW XPNPEP3 \| 63929 \| UniProtKB-KW ZNF423 \| 23090 \| UniProtKB-KW;GHR DCDC2 \| 51473 \| UniProtKB-KW NPHP1 \| 4867 \| ORPHANET;GHR;UniProtKB-KW IQCB1 \| 9657 \| UniProtKB-KW NPHP3 \| 27031 \| UniProtKB-KW;GHR NEK8 \| 284086 \| UniProtKB-KW;GHR GLIS2 \| 84662 \| ORPHANET;GHR;UniProtKB-KW ANKS6 \| 203286 \| ORPHANET;GHR;UniProtKB-KW CEP164 \| 22897 \| UniProtKB-KW;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:175) 7145 \| TNS1 \| DISEASES 10777 \| ARPP21 \| DISEASES 359 \| AQP2 \| DISEASES 6928 \| HNF1B \| DISEASES 51056 \| LAP3 \| DISEASES 2735 \| GLI1 \| DISEASES 8724 \| SNX3 \| DISEASES 5311 \| PKD2 \| DISEASES 91754 \| NEK9 \| DISEASES 112752 \| IFT43 \| DISEASES 27241 \| BBS9 \| DISEASES 28981 \| IFT81 \| DISEASES 79809 \| TTC21B \| DISEASES 80776 \| B9D2 \| DISEASES 8195 \| MKKS \| DISEASES 402 \| ARL2 \| DISEASES 57576 \| KIF17 \| DISEASES 8554 \| PIAS1 \| DISEASES 25814 \| ATXN10 \| DISEASES 10343 \| PKDREJ \| DISEASES 9113 \| LATS1 \| DISEASES 3000 \| GUCY2D \| DISEASES 84070 \| FAM186B \| DISEASES 5959 \| RDH5 \| DISEASES 84102 \| SLC41A2 \| DISEASES 27283 \| TINAG \| DISEASES 26160 \| IFT172 \| DISEASES 403 \| ARL3 \| DISEASES 23317 \| DNAJC13 \| DISEASES 27077 \| B9D1 \| DISEASES 64398 \| MPP5 \| DISEASES 79959 \| CEP76 \| DISEASES 79848 \| CSPP1 \| DISEASES 79784 \| MYH14 \| DISEASES 5310 \| PKD1 \| DISEASES 84662 \| GLIS2 \| DISEASES 23090 \| ZNF423 \| DISEASES 27130 \| INVS \| DISEASES 57644 \| MYH7B \| DISEASES 51588 \| PIAS4 \| DISEASES 56912 \| IFT46 \| DISEASES 10686 \| CLDN16 \| DISEASES 2121 \| EVC \| DISEASES 56302 \| TRPV5 \| DISEASES 51265 \| CDKL3 \| DISEASES 54806 \| AHI1 \| DISEASES 84060 \| RBM48 \| DISEASES 26123 \| TCTN3 \| DISEASES 145226 \| RDH12 \| DISEASES 585 \| BBS4 \| DISEASES 284086 \| NEK8 \| DISEASES 4628 \| MYH10 \| DISEASES 54856 \| GON4L \| DISEASES 7851 \| MALL \| DISEASES 9389 \| SLC22A14 \| DISEASES 51524 \| TMEM138 \| DISEASES 22897 \| CEP164 \| DISEASES 219854 \| TMEM218 \| DISEASES 132320 \| SCLT1 \| DISEASES 5903 \| RANBP2 \| DISEASES 56172 \| ANKH \| DISEASES 5147 \| PDE6D \| DISEASES 26060 \| APPL1 \| DISEASES 129880 \| BBS5 \| DISEASES 166336 \| PRICKLE2 \| DISEASES 55764 \| IFT122 \| DISEASES 203286 \| ANKS6 \| DISEASES 55662 \| HIF1AN \| DISEASES 3611 \| ILK \| DISEASES 84516 \| DCTN5 \| DISEASES 57037 \| ANKMY2 \| DISEASES 124401 \| ANKS3 \| DISEASES 79867 \| TCTN2 \| DISEASES 7369 \| UMOD \| DISEASES 10067 \| SCAMP3 \| DISEASES 1808 \| DPYSL2 \| DISEASES 148979 \| GLIS1 \| DISEASES 3265 \| HRAS \| DISEASES 9657 \| IQCB1 \| DISEASES 57560 \| IFT80 \| DISEASES 4867 \| NPHP1 \| DISEASES 57539 \| WDR35 \| DISEASES 55690 \| PACS1 \| DISEASES 582 \| BBS1 \| DISEASES 26005 \| C2CD3 \| DISEASES 8100 \| IFT88 \| DISEASES 54946 \| SLC41A3 \| DISEASES 5108 \| PCM1 \| DISEASES 4990 \| SIX6 \| DISEASES 6612 \| SUMO3 \| DISEASES 144453 \| BEST3 \| DISEASES 2185 \| PTK2B \| DISEASES 5587 \| PRKD1 \| DISEASES 11247 \| NXPH4 \| DISEASES 200728 \| TMEM17 \| DISEASES 9094 \| UNC119 \| DISEASES 135138 \| PACRG \| DISEASES 554 \| AVPR2 \| DISEASES 27031 \| NPHP3 \| DISEASES 10524 \| KAT5 \| DISEASES 8481 \| OFD1 \| DISEASES 1499 \| CTNNB1 \| DISEASES 84747 \| UNC119B \| DISEASES 22881 \| ANKRD6 \| DISEASES 63929 \| XPNPEP3 \| DISEASES 79874 \| RABEP2 \| DISEASES 6714 \| SRC \| DISEASES 5116 \| PCNT \| DISEASES 4134 \| MAP4 \| DISEASES 25937 \| WWTR1 \| DISEASES 23085 \| ERC1 \| DISEASES 10806 \| SDCCAG8 \| DISEASES 1063 \| CENPF \| DISEASES 254428 \| SLC41A1 \| DISEASES 140609 \| NEK7 \| DISEASES 57127 \| RHBG \| DISEASES 4582 \| MUC1 \| DISEASES 51175 \| TUBE1 \| DISEASES 4881 \| NPR1 \| DISEASES 7101 \| NR2E1 \| DISEASES 1069 \| CETN2 \| DISEASES 5314 \| PKHD1 \| DISEASES 56623 \| INPP5E \| DISEASES 51098 \| IFT52 \| DISEASES 26146 \| TRAF3IP1 \| DISEASES 79140 \| CCDC28B \| DISEASES 1104 \| RCC1 \| DISEASES 80114 \| BICC1 \| DISEASES 22954 \| TRIM32 \| DISEASES 8325 \| FZD8 \| DISEASES 116085 \| SLC22A12 \| DISEASES 261734 \| NPHP4 \| DISEASES 51473 \| DCDC2 \| DISEASES 6103 \| RPGR \| DISEASES 11127 \| KIF3A \| DISEASES 1855 \| DVL1 \| DISEASES 2710 \| GK \| DISEASES 23322 \| RPGRIP1L \| DISEASES 80173 \| IFT74 \| DISEASES 54875 \| CNTLN \| DISEASES 23746 \| AIPL1 \| DISEASES 192668 \| CYS1 \| DISEASES 10188 \| TNK2 \| DISEASES 169792 \| GLIS3 \| DISEASES 51199 \| NIN \| DISEASES 114899 \| C1QTNF3 \| DISEASES 54903 \| MKS1 \| DISEASES 200894 \| ARL13B \| DISEASES 3619 \| INCENP \| DISEASES 3965 \| LGALS9 \| DISEASES 8814 \| CDKL1 \| DISEASES 7289 \| TULP3 \| DISEASES 7106 \| TSPAN4 \| DISEASES 283232 \| TMEM80 \| DISEASES 79600 \| TCTN1 \| DISEASES 79659 \| DYNC2H1 \| DISEASES 79583 \| TMEM231 \| DISEASES 57728 \| WDR19 \| DISEASES 57096 \| RPGRIP1 \| DISEASES 284403 \| WDR62 \| DISEASES 10640 \| EXOC5 \| DISEASES 91147 \| TMEM67 \| DISEASES 9564 \| BCAR1 \| DISEASES 23005 \| MAPKBP1 \| DISEASES 7849 \| PAX8 \| DISEASES 5076 \| PAX2 \| DISEASES 57545 \| CC2D2A \| DISEASES 392509 \| ARL13A \| DISEASES 6613 \| SUMO2 \| DISEASES 9742 \| IFT140 \| DISEASES 387707 \| CC2D2B \| DISEASES 8999 \| CDKL2 \| DISEASES 56649 \| TMPRSS4 \| DISEASES 51259 \| TMEM216 \| DISEASES 80184 \| CEP290 \| DISEASES
Locus	(Waiting for update.)

Disease ID	203
Disease	nephronophthisis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0001903 \| Anemia HP:0000083 \| Renal insufficiency HP:0007703 \| Abnormality of retinal pigmentation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0003774 \| End-stage renal failure \| 3 HP:0000556 \| Retinal dystrophy \| 2 HP:0000510 \| Retinitis pigmentosa \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0001067 \| Neurofibromas \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0002186 \| Apraxia \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0010579 \| Cone-shaped epiphyses \| 1 HP:0000657 \| Oculomotor apraxia \| 1 HP:0000488 \| Noninflammatory retina disease \| 1

Disease ID	203
Disease	nephronophthisis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C0403447 \| chronic renal insufficiency C0035304 \| retinal degeneration C0022661 \| end-stage renal disease C0022658 \| renal disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0022658 \| renal disease \| 2 C0022661 \| end-stage renal disease \| 2 C0035304 \| retinal degeneration \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007703	Abnormality of retinal pigmentation	MP:0001006	abnormal retinal cone cell morphology;HP:0000083	Renal insufficiency

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001903	Anemia	MP:0011250	abdominal situs ambiguus;HP:0007703	Abnormality of retinal pigmentation

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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