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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: Allanson Pantzar McLeod syndrome (C537048)
Parent Node: Diseases (C)
Parent Node: Kidney Diseases (D007674)
..Starting node ..RENAL TUBULAR DYSGENESIS (OMIM:267430)
Child Nodes:
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..AIDS-Associated Nephropathy (D016263)
..Alsing syndrome (C536588)
..Anuria (D001002)
..Arnold Stickler Bourne syndrome (C537431)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..Blue diaper syndrome (C536239)
..Complement Factor H Deficiency (C562875)
..Diabetes Insipidus (D003919) 10
..Diabetic Nephropathies (D003928) 4
..Dimauro disease (C536176)
..Fanconi Syndrome (D005198) 3
..Hepatorenal Syndrome (D006530)
..Hereditary renal agenesis (C536482)
..Herrmann syndrome (C538113)
..Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
..Hydronephrosis (D006869) 5
..Hyperoxaluria (D006959) 4
..Hypertension, Renal (D006977) 3
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Infundibulopelvic dysgenesis (C535528)
..Jejunal atresia with renal adysplasia (C537567)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 9 (C567364)
..Juvenile gout (C537696)
..Kidney Cortex Necrosis (D007673)
..Kidney Diseases, Cystic (D052177) 52
..Kidney Neoplasms (D007680) 23
..Kidney Papillary Necrosis (D007681)
..Lachiewicz Sibley syndrome (C538131)
..Lipoprotein Glomerulopathy (C567089)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..Nephritis (D009393) 51
..Nephrocalcinosis (D009397) 6
..Nephrolithiasis (D053040) 11
..NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephrosclerosis (D009400)
..Nephrosis (D009401) 22
..Perinephritis (D010501)
..Radio renal syndrome (C536267)
..Ren-Related Kidney Disease (C580420)
..Renal Artery Obstruction (D012078)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal Hypodysplasia, Nonsyndromic, 1 (C563661)
..Renal Insufficiency (D051437) 15
..Renal Nutcracker Syndrome (D059228)
..Renal Osteodystrophy (D012080)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..Selig Benacerraf Greene syndrome (C535840)
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Siegler Brewer Carey syndrome (C537335)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Thrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..Thyrocerebral-retinal syndrome (C536908)
..Tuberculosis, Renal (D014398)
..Uremia (D014511) 4
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9670

Name:

RENAL TUBULAR DYSGENESIS

Definition:

Alternative IDs:

ParentIDs:

MESH:C537048|MESH:D007674

TreeNumbers:

C12.706/C537048/267430 |C12.777.419/267430 |C13.351.875/C537048/267430 |C13.351.968.419/267430 |C16.131.939/C537048/267430

Synonyms:

PRIMITIVE RENAL TUBULE SYNDROME RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA, INCLUDED |RTD

Slim Mappings:

Congenital abnormality|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 267430
MeSH: 267430
OMIM: 267430;

Genes: ACE; AGT; AGTR1; REN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000079	Abnormality of the urinary system
3	HP:0100519	Anuria
4	HP:0002615	Hypotension
5	HP:0000252	Microcephaly
6	HP:0001562	Oligohydramnios
7	HP:0002009	Potter facies
8	HP:0002089	Pulmonary hypoplasia
9	HP:0008660	Renotubular dysgenesis
10	HP:0002093	Respiratory insufficiency
11	HP:0004492	Widely patent fontanelles and sutures

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_000789.3(ACE):c.12_31del20 (p.Ser5Alafs)	1636	ACE	Pathogenic	797045079	RCV000190563;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	17	61554467	61554486	NM_000789.3:c.12_31del20	NP_000780.1:p.Ser5Alafs		-	C0266313 267430 Renal dysplasia
NM_000789.3(ACE):c.798C>G (p.Tyr266Ter)	1636	ACE	Pathogenic	121912704	RCV000019686;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	17	61557840	61557840	NM_000789.3:c.798C>G	NP_000780.1:p.Tyr266Ter	NC_000017.10:g.61557840C>G	OMIM Allelic Variant:106180.0003	C0266313 267430 Renal dysplasia
NM_000789.3(ACE):c.1319_1322delTGGA (p.Leu440Profs)	1636	ACE	Pathogenic	387906576	RCV000019687;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	17	61560027	61560030	NM_000789.3:c.1319_1322delTGGA	NP_000780.1:p.Leu440Profs	NC_000017.10:g.61560027_61560030delTGGA	OMIM Allelic Variant:106180.0004	C0266313 267430 Renal dysplasia
NM_000789.3(ACE):c.1486C>T (p.Arg496Ter)	1636	ACE	Pathogenic	397514688	RCV000043470;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	17	61560533	61560533	NM_000789.3:c.1486C>T	NP_000780.1:p.Arg496Ter	NC_000017.10:g.61560533C>T	OMIM Allelic Variant:106180.0005	C0266313 267430 Renal dysplasia
NM_000789.3(ACE):c.2371C>T (p.Arg791Ter)	1636	ACE	Pathogenic	397514689	RCV000043471;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	17	61566074	61566074	NM_000789.3:c.2371C>T	NP_000780.1:p.Arg791Ter	NC_000017.10:g.61566074C>T	OMIM Allelic Variant:106180.0006	C0266313 267430 Renal dysplasia
NM_000029.3(AGT):c.1290delT (p.Phe430Leufs)	183	AGT	Pathogenic	387906578	RCV000019698;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	230839055	230839055	NM_000029.3:c.1290delT	NP_000020.1:p.Phe430Leufs	NC_000001.10:g.230839055delA	OMIM Allelic Variant:106150.0005	C0266313 267430 Renal dysplasia
NM_000029.3(AGT):c.1124G>A (p.Arg375Gln)	183	AGT	Pathogenic	74315283	RCV000019696;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	230841679	230841679	NM_000029.3:c.1124G>A	NP_000020.1:p.Arg375Gln	NC_000001.10:g.230841679C>T	OMIM Allelic Variant:106150.0003	C0266313 267430 Renal dysplasia
NM_000029.3(AGT):c.604C>T (p.Gln202Ter)	183	AGT	Pathogenic	121912702	RCV000019697;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	230845993	230845993	NM_000029.3:c.604C>T	NP_000020.1:p.Gln202Ter	NC_000001.10:g.230845993G>A	OMIM Allelic Variant:106150.0004	C0266313 267430 Renal dysplasia
NM_031850.3(AGTR1):c.215dupT (p.Ile73Hisfs)	185	AGTR1	Pathogenic	387906577	RCV000019689;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	3	148458932	148458932	NM_031850.3:c.215dupT	NP_114038.4:p.Ile73Hisfs	NC_000003.11:g.148458932dupT	OMIM Allelic Variant:106165.0003	C0266313 267430 Renal dysplasia
NM_031850.3(AGTR1):c.356G>A (p.Trp119Ter)	185	AGTR1	Pathogenic	398122935	RCV000043468;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	3	148459073	148459073	NM_031850.3:c.356G>A	NP_114038.4:p.Trp119Ter	NC_000003.11:g.148459073G>A	OMIM Allelic Variant:106165.0005	C0266313 267430 Renal dysplasia
NM_031850.3(AGTR1):c.481C>T (p.Arg161Ter)	185	AGTR1	Pathogenic	397514687	RCV000043469;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	3	148459198	148459198	NM_031850.3:c.481C>T	NP_114038.4:p.Arg161Ter	NC_000003.11:g.148459198C>T	OMIM Allelic Variant:106165.0006	C0266313 267430 Renal dysplasia
NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)	185	AGTR1	Pathogenic	104893677	RCV000019690;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	3	148459667	148459667	NM_031850.3:c.950C>T	NP_114038.4:p.Thr317Met	NC_000003.11:g.148459667C>T	OMIM Allelic Variant:106165.0004	C0266313 267430 Renal dysplasia
NM_000537.3(REN):c.689G>A (p.Arg230Lys)	5972	REN	Pathogenic	121917742	RCV000014004;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	204128527	204128527	NM_000537.3:c.689G>A	NP_000528.1:p.Arg230Lys	NC_000001.10:g.204128527C>T	OMIM Allelic Variant:179820.0003	C0266313 267430 Renal dysplasia
NM_000537.3(REN):c.404C>A (p.Ser135Tyr)	5972	REN	Pathogenic	397514691	RCV000043473;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	204129776	204129776	NM_000537.3:c.404C>A	NP_000528.1:p.Ser135Tyr	NC_000001.10:g.204129776G>T	OMIM Allelic Variant:179820.0007	C0266313 267430 Renal dysplasia
NM_000537.3(REN):c.145C>T (p.Arg49Ter)	5972	REN	Pathogenic	121917741	RCV000014003;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	204131245	204131245	NM_000537.3:c.145C>T	NP_000528.1:p.Arg49Ter	NC_000001.10:g.204131245G>A	OMIM Allelic Variant:179820.0002	C0266313 267430 Renal dysplasia
NM_000537.3(REN):c.127C>T (p.Arg43Ter)	5972	REN	Pathogenic	397514690	RCV000043472;	N	MedGen:C0266313,OMIM:267430,ORPHA:3033,SNOMED CT:204949001	1	204131263	204131263	NM_000537.3:c.127C>T	NP_000528.1:p.Arg43Ter	NC_000001.10:g.204131263G>A	OMIM Allelic Variant:179820.0006	C0266313 267430 Renal dysplasia