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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dandy-Walker Syndrome (D003616)
Parent Node: Kidney Diseases, Cystic (D052177)
Parent Node: Liver Diseases (D008107)
Parent Node: Pancreatic Diseases (D010182)
Parent Node: Situs Inversus (D012857)
..Starting node ..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Child Nodes:
Sister Nodes:
..Dextrocardia (D003914) 10
..Fraser Jequier Chen syndrome (C535481)
..HETEROTAXY, VISCERAL, 5, AUTOSOMAL (OMIM:270100)
..Hypoglossia With Situs Inversus (C567567)
..Jeune syndrome situs inversus (C537572)
..Levocardia (D007979)
..Marfanoid Habitus with Situs Inversus (C563814)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9654

Name:

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D003616|MESH:D008107|MESH:D010182|MESH:D012857|MESH:D052177

TreeNumbers:

C06.552/208540 |C06.689/208540 |C10.228.140.252.300/208540 |C10.228.140.602.288/208540 |C10.228.140.631.450.500/208540 |C10.500.205/208540 |C12.777.419.403/208540 |C13.351.968.419.403/208540 |C16.131.666.205/208540 |C16.131.810/208540

Synonyms:

RHPD |RHPD1

Slim Mappings:

Congenital abnormality|Digestive system disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 208540
MeSH: 208540
OMIM: 208540;

Genes: NPHP3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001650	Aortic valve stenosis
3	HP:0001746	Asplenia
4	HP:0001631	Atrial septal defect
5	HP:0001408	Bile duct proliferation
6	HP:0002613	Biliary cirrhosis
7	HP:0001396	Cholestasis
8	HP:0001394	Cirrhosis
9	HP:0001305	Dandy-Walker malformation	HP:0040283
10	HP:0000105	Enlarged kidney
11	HP:0001407	Hepatic cysts
12	HP:0001395	Hepatic fibrosis
13	HP:0002240	Hepatomegaly
14	HP:0002566	Intestinal malrotation
15	HP:0001562	Oligohydramnios
16	HP:0001737	Pancreatic cysts
17	HP:0100732	Pancreatic fibrosis
18	HP:0001643	Patent ductus arteriosus
19	HP:0000113	Polycystic kidney dysplasia
20	HP:0001748	Polysplenia
21	HP:0002009	Potter facies
22	HP:0002089	Pulmonary hypoplasia
23	HP:0000110	Renal dysplasia
24	HP:0000083	Renal insufficiency
25	HP:0005999	Ureteral atresia	HP:0040283

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_153240.4(NPHP3):c.3373C>T (p.Arg1125Ter)	-1	-	Pathogenic	368138001	RCV000176506; RCV000176505; RCV000082669;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:CN221809	3	132403595	132403595	NM_153240.4:c.3373C>T	NP_694972.3:p.Arg1125Ter	NC_000003.11:g.132403595G>A	HGMD:CM1211302	C1858392 604387 Adolescent nephronophthisis; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.3340C>T (p.Gln1114Ter)	-1	-	Pathogenic	119456964	RCV000002757;	N	MedGen:C2673883,OMIM:208540	3	132403628	132403628	NM_153240.4:c.3340C>T	NP_694972.3:p.Gln1114Ter	NC_000003.11:g.132403628G>A	OMIM Allelic Variant:608002.0007	C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.2918G>A (p.Arg973Gln)	-1	-	Pathogenic	119456963	RCV000002756;	N	MedGen:C2673883,OMIM:208540	3	132407701	132407701	NM_153240.4:c.2918G>A	NP_694972.3:p.Arg973Gln	NC_000003.11:g.132407701C>T	OMIM Allelic Variant:608002.0006	C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.2369T>C (p.Leu790Pro)	-1	-	Likely pathogenic	398124546	RCV000175247; RCV000175246; RCV000082664;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:CN221809	3	132411604	132411604	NM_153240.4:c.2369T>C	NP_694972.3:p.Leu790Pro	NC_000003.11:g.132411604A>G	-	C1858392 604387 Adolescent nephronophthisis; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.1729C>T (p.Arg577Ter)	-1	-	Pathogenic	119456962	RCV000174180; RCV000002755; RCV000174179; RCV000082662;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540; MedGen:C2673885,OMIM:267010,ORPHA:3032; MedGen:CN221809	3	132419192	132419192	NM_153240.4:c.1729C>T	NP_694972.3:p.Arg577Ter	NC_000003.11:g.132419192G>A	HGMD:CM081369,OMIM Allelic Variant:608002.0005	C1858392 604387 Adolescent nephronophthisis; C2673885 267010 Meckel syndrome type 7; CN221809 not provided; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.434_437delAAAG (p.Glu145Valfs)	-1	-	Pathogenic	763300393	RCV000175992; RCV000175991;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540	3	132438631	132438634	NM_153240.4:c.434_437delAAAG	NP_694972.3:p.Glu145Valfs	NC_000003.11:g.132438631_132438634delCTTT	-	C1858392 604387 Adolescent nephronophthisis; C2673883 208540 Renal-hepatic-pancreatic dysplasia
NM_153240.4(NPHP3):c.273delC (p.Tyr91Terfs)	-1	-	Pathogenic	758558609	RCV000173578; RCV000173579;	N	MedGen:C1858392,OMIM:604387,SNOMED CT:444749006; MedGen:C2673883,OMIM:208540	3	132440927	132440927	NM_153240.4:c.273delC	NP_694972.3:p.Tyr91Terfs	NC_000003.11:g.132440927delG	-	C1858392 604387 Adolescent nephronophthisis; C2673883 208540 Renal-hepatic-pancreatic dysplasia