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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Nephronophthisis 2 (C566582)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..Nephronophthisis 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7882

Name:

Nephronophthisis 2

Definition:

Alternative IDs:

OMIM:602088

ParentIDs:

MESH:D052177

TreeNumbers:

C12.777.419.403/C566582 |C13.351.968.419.403/C566582

Synonyms:

Nephronophthisis, Infantile |NPH2 |NPHP2

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C566582
MeSH: C566582
OMIM: 602088;

Genes: INVS;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005564	Absence of renal corticomedullary differentiation
3	HP:0004743	Chronic tubulointerstitial nephritis
4	HP:0003259	Elevated circulating creatinine concentration
5	HP:0000105	Enlarged kidney
6	HP:0004719	Hyperechogenic kidneys
7	HP:0002153	Hyperkalemia
8	HP:0005976	Hyperkalemic metabolic acidosis
9	HP:0000822	Hypertension
10	HP:0000090	Nephronophthisis
11	HP:0001562	Oligohydramnios
12	HP:0002089	Pulmonary hypoplasia
13	HP:0010444	Pulmonary insufficiency
14	HP:0004734	Renal cortical microcysts
15	HP:0002878	Respiratory failure
16	HP:0002093	Respiratory insufficiency
17	HP:0001696	Situs inversus totalis	HP:0040283
18	HP:0003774	Stage 5 chronic kidney disease

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_014425.4(INVS):c.1478T>C (p.Leu493Ser)	27130	INVS	Pathogenic	121964995	RCV000012738;	N	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	9	103027117	103027117	NM_014425.4:c.1478T>C	NP_055240.2:p.Leu493Ser	NC_000009.11:g.103027117T>C	OMIM Allelic Variant:243305.0002	C1865872 602088 Infantile nephronophthisis
NM_014425.4(INVS):c.1807C>T (p.Arg603Ter)	27130	INVS	Pathogenic	121964994	RCV000012737;	N	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	9	103046624	103046624	NM_014425.4:c.1807C>T	NP_055240.2:p.Arg603Ter	NC_000009.11:g.103046624C>T	OMIM Allelic Variant:243305.0001	C1865872 602088 Infantile nephronophthisis
NM_014425.4(INVS):c.2509C>T (p.Gln837Ter)	27130	INVS	Pathogenic	755549444	RCV000174768;	N	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	9	103055048	103055048	NM_014425.4:c.2509C>T	NP_055240.2:p.Gln837Ter	NC_000009.11:g.103055048C>T	-	C1865872 602088 Infantile nephronophthisis
NM_014425.4(INVS):c.2695C>T (p.Arg899Ter)	27130	INVS	Pathogenic	200844390	RCV000012740;	N	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	9	103055234	103055234	NM_014425.4:c.2695C>T	NP_055240.2:p.Arg899Ter	NC_000009.11:g.103055234C>T	OMIM Allelic Variant:243305.0004	C1865872 602088 Infantile nephronophthisis
NM_014425.4(INVS):c.2719C>T (p.Arg907Ter)	27130	INVS	Pathogenic	267607185	RCV000012739;	N	MedGen:C1865872,OMIM:602088,SNOMED CT:444558002	9	103055258	103055258	NM_014425.4:c.2719C>T	NP_055240.2:p.Arg907Ter	NC_000009.11:g.103055258C>T	OMIM Allelic Variant:243305.0003	C1865872 602088 Infantile nephronophthisis