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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: Kidney Diseases (D007674)
..Starting node ..Renal Hypodysplasia, Nonsyndromic, 1 (C563661)
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:

9656

Name:

Renal Hypodysplasia, Nonsyndromic, 1

Definition:

Alternative IDs:

OMIM:610805

ParentIDs:

MESH:D007674

TreeNumbers:

C12.777.419/C563661 |C13.351.968.419/C563661

Synonyms:

CAKUT |CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO |RENAL HYPODYSPLASIA, NONSYNDROMIC, 1 |RHDNS1

Slim Mappings:

Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C563661
MeSH: C563661
OMIM: 610805;

Genes: AF8T; DSTYK;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0003829	Incomplete penetrance
4	HP:0003774	Stage 5 chronic kidney disease
5	HP:0000074	Ureteropelvic junction obstruction
6	HP:0000076	Vesicoureteral reflux

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_015375.2(DSTYK):c.86G>A (p.Arg29Gln)	25778	DSTYK	risk factor	200780796	RCV000054500;	N	Gene:100034704,MedGen:C1835826,OMIM:610805	1	205180578	205180578	NM_015375.2:c.86G>A	NP_056190.1:p.Arg29Gln	NC_000001.10:g.205180578C>T	OMIM Allelic Variant:612666.0004	C1835826 610805 Renal hypodysplasia, nonsyndromic, 1
NM_006953.3(UPK3A):c.605G>A (p.Gly202Asp)	7380	UPK3A	Uncertain significance	121918187	RCV000000923;	N	Gene:100034704,MedGen:C1835826,OMIM:610805	22	45689095	45689095	NM_006953.3:c.605G>A	NP_008884.1:p.Gly202Asp	NC_000022.10:g.45689095G>A	OMIM Allelic Variant:611559.0003	C1835826 610805 Renal hypodysplasia, nonsyndromic, 1
NM_006953.3(UPK3A):c.818C>T (p.Pro273Leu)	7380	UPK3A	Uncertain significance	121918186	RCV000000921;	N	Gene:100034704,MedGen:C1835826,OMIM:610805	22	45691554	45691554	NM_006953.3:c.818C>T	NP_008884.1:p.Pro273Leu	NC_000022.10:g.45691554C>T	OMIM Allelic Variant:611559.0001	C1835826 610805 Renal hypodysplasia, nonsyndromic, 1