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encyclopedia of Rare Disease Annotation for Precision Medicine

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	nephronophthisis

Disease ID	341
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) C0035304 \| retinal degeneration \| 2 C0035334 \| retinitis pigmentosa \| 2 C0022661 \| end-stage renal disease \| 2 C0022658 \| renal disease \| 2 C0003635 \| apraxia \| 1 C0022658 \| kidney disease \| 1 C0085113 \| neurofibromatosis \| 1 C0022661 \| end-stage renal failure \| 1 C0431399 \| joubert syndrome \| 1 C0271270 \| oculomotor apraxia \| 1 C0022679 \| cystic kidney \| 1 C0022658 \| nephropathies \| 1 C0035078 \| renal failure \| 1 C0085413 \| autosomal dominant polycystic kidney \| 1 C0085413 \| autosomal dominant polycystic kidney disease \| 1 C0035309 \| retinopathy \| 1 C0035333 \| retinitis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) 23005 \| MAPKBP1 \| UniProtKB-KW 80184 \| CEP290 \| UniProtKB-KW 27031 \| NPHP3 \| UniProtKB-KW;GHR 26146 \| TRAF3IP1 \| UniProtKB-KW 91147 \| TMEM67 \| UniProtKB-KW;GHR 9657 \| IQCB1 \| UniProtKB-KW 57728 \| WDR19 \| UniProtKB-KW;GHR 10806 \| SDCCAG8 \| UniProtKB-KW 4867 \| NPHP1 \| UniProtKB-KW;GHR 261734 \| NPHP4 \| UniProtKB-KW;GHR 203286 \| ANKS6 \| UniProtKB-KW;GHR 284086 \| NEK8 \| UniProtKB-KW;GHR 51473 \| DCDC2 \| UniProtKB-KW 84662 \| GLIS2 \| UniProtKB-KW;GHR 79809 \| TTC21B \| UniProtKB-KW;GHR 7369 \| UMOD \| UniProtKB-KW 23090 \| ZNF423 \| UniProtKB-KW;GHR 27130 \| INVS \| UniProtKB-KW;GHR 22897 \| CEP164 \| UniProtKB-KW;GHR 63929 \| XPNPEP3 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:91) 23746 \| AIPL1 \| 1.403 \| DISEASES 22881 \| ANKRD6 \| 2.49 \| DISEASES 392509 \| ARL13A \| 4.242 \| DISEASES 200894 \| ARL13B \| 3.808 \| DISEASES 554 \| AVPR2 \| 2.355 \| DISEASES 9564 \| BCAR1 \| 2.382 \| DISEASES 144453 \| BEST3 \| 2.034 \| DISEASES 80114 \| BICC1 \| 1.887 \| DISEASES 114899 \| C1QTNF3 \| 1.093 \| DISEASES 26005 \| C2CD3 \| 3.037 \| DISEASES 57545 \| CC2D2A \| 4.162 \| DISEASES 387707 \| CC2D2B \| 4.035 \| DISEASES 79140 \| CCDC28B \| 2.713 \| DISEASES 8814 \| CDKL1 \| 2.716 \| DISEASES 8999 \| CDKL2 \| 2.966 \| DISEASES 1063 \| CENPF \| 1.337 \| DISEASES 80184 \| CEP290 \| 5.555 \| DISEASES 1069 \| CETN2 \| 1.935 \| DISEASES 54875 \| CNTLN \| 3.259 \| DISEASES 1499 \| CTNNB1 \| 1.684 \| DISEASES 192668 \| CYS1 \| 2.89 \| DISEASES 51473 \| DCDC2 \| 3.564 \| DISEASES 1855 \| DVL1 \| 2.565 \| DISEASES 79659 \| DYNC2H1 \| 2.055 \| DISEASES 23085 \| ERC1 \| 1.994 \| DISEASES 10640 \| EXOC5 \| 2.569 \| DISEASES 8325 \| FZD8 \| 1.707 \| DISEASES 2710 \| GK \| 1.51 \| DISEASES 169792 \| GLIS3 \| 2.321 \| DISEASES 9742 \| IFT140 \| 4.027 \| DISEASES 51098 \| IFT52 \| 2.901 \| DISEASES 80173 \| IFT74 \| 2.777 \| DISEASES 8100 \| IFT88 \| 3.431 \| DISEASES 3619 \| INCENP \| 1.996 \| DISEASES 56623 \| INPP5E \| 3.739 \| DISEASES 10524 \| KAT5 \| 1.066 \| DISEASES 11127 \| KIF3A \| 2.488 \| DISEASES 3965 \| LGALS9 \| 1.067 \| DISEASES 4134 \| MAP4 \| 1.654 \| DISEASES 23005 \| MAPKBP1 \| 4.113 \| DISEASES 54903 \| MKS1 \| 4.439 \| DISEASES 4582 \| MUC1 \| 4.42 \| DISEASES 140609 \| NEK7 \| 2.484 \| DISEASES 51199 \| NIN \| 1.371 \| DISEASES 27031 \| NPHP3 \| 6.552 \| DISEASES 261734 \| NPHP4 \| 6.882 \| DISEASES 4881 \| NPR1 \| 1.241 \| DISEASES 7101 \| NR2E1 \| 2.082 \| DISEASES 11247 \| NXPH4 \| 4.27 \| DISEASES 8481 \| OFD1 \| 4.403 \| DISEASES 135138 \| PACRG \| 1.817 \| DISEASES 5076 \| PAX2 \| 1.374 \| DISEASES 7849 \| PAX8 \| 1.145 \| DISEASES 5108 \| PCM1 \| 2.06 \| DISEASES 5116 \| PCNT \| 1.102 \| DISEASES 5314 \| PKHD1 \| 3.904 \| DISEASES 5587 \| PRKD1 \| 3.258 \| DISEASES 2185 \| PTK2B \| 2.182 \| DISEASES 79874 \| RABEP2 \| 3.432 \| DISEASES 1104 \| RCC1 \| 3.644 \| DISEASES 57127 \| RHBG \| 2.552 \| DISEASES 6103 \| RPGR \| 3.447 \| DISEASES 57096 \| RPGRIP1 \| 4.199 \| DISEASES 23322 \| RPGRIP1L \| 4.944 \| DISEASES 10806 \| SDCCAG8 \| 5.109 \| DISEASES 4990 \| SIX6 \| 1.301 \| DISEASES 116085 \| SLC22A12 \| 1.024 \| DISEASES 254428 \| SLC41A1 \| 3.947 \| DISEASES 54946 \| SLC41A3 \| 3.825 \| DISEASES 6714 \| SRC \| 2.275 \| DISEASES 6613 \| SUMO2 \| 1.247 \| DISEASES 6612 \| SUMO3 \| 1.276 \| DISEASES 79600 \| TCTN1 \| 3.428 \| DISEASES 200728 \| TMEM17 \| 3.985 \| DISEASES 51259 \| TMEM216 \| 4.533 \| DISEASES 79583 \| TMEM231 \| 3.166 \| DISEASES 91147 \| TMEM67 \| 5.539 \| DISEASES 283232 \| TMEM80 \| 3.896 \| DISEASES 56649 \| TMPRSS4 \| 1.46 \| DISEASES 10188 \| TNK2 \| 1.607 \| DISEASES 26146 \| TRAF3IP1 \| 3.123 \| DISEASES 22954 \| TRIM32 \| 1.449 \| DISEASES 7106 \| TSPAN4 \| 1.458 \| DISEASES 51175 \| TUBE1 \| 1.984 \| DISEASES 7289 \| TULP3 \| 2.451 \| DISEASES 9094 \| UNC119 \| 2.441 \| DISEASES 84747 \| UNC119B \| 3.652 \| DISEASES 57728 \| WDR19 \| 4.931 \| DISEASES 284403 \| WDR62 \| 1.95 \| DISEASES 25937 \| WWTR1 \| 1.165 \| DISEASES 63929 \| XPNPEP3 \| 4.376 \| DISEASES
Locus	(Waiting for update.)

Disease ID	341
Disease	nephronophthisis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0007703 \| Abnormality of retinal pigmentation HP:0001903 \| Anemia HP:0000083 \| Renal insufficiency
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:11) HP:0003774 \| End-stage renal failure \| 3 HP:0000556 \| Retinal dystrophy \| 2 HP:0000546 \| Retinal degeneration \| 2 HP:0000510 \| Retinitis pigmentosa \| 2 HP:0000657 \| Oculomotor apraxia \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0010579 \| Cone-shaped epiphyses \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0002186 \| Apraxia \| 1 HP:0000083 \| Renal insufficiency \| 1

Disease ID	341
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) C0022661 \| end-stage renal disease \| 2 C0035304 \| retinal degeneration \| 2 C0022658 \| renal disease \| 2

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

Text Mining Genotype(Total 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:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000083	Renal insufficiency	MP:0003335	exocrine pancreatic insufficiency	inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0007703	Abnormality of retinal pigmentation	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007703	Abnormality of retinal pigmentation	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000083	Renal insufficiency	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division

Disease ID	341
Disease	nephronophthisis
Case	(Waiting for update.)

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