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Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Hydronephrosis (D006869)
Parent Node: Multicystic Dysplastic Kidney (D021782)
Parent Node: Ureteral Obstruction (D014517)
..Starting node ..Multicystic renal dysplasia, bilateral (C537373)
Child Nodes:
Sister Nodes:
..Multicystic renal dysplasia, bilateral (C537373)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7449

Name:

Multicystic renal dysplasia, bilateral

Definition:

Alternative IDs:

OMIM:143400

ParentIDs:

MESH:D006869|MESH:D014517|MESH:D021782

TreeNumbers:

C12.706.629/C537373 |C12.777.419.307/C537373 |C12.777.419.403.750/C537373 |C12.777.725.776/C537373 |C13.351.875.558/C537373 |C13.351.968.419.307/C537373 |C13.351.968.419.403.750/C537373 |C13.351.968.725.776/C537373 |C16.131.939.629/C537373

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537373
MeSH: C537373
OMIM: 143400;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0008676	Congenital megaureter
3	HP:0000800	Cystic renal dysplasia
4	HP:0030157	Flank pain
5	HP:0000126	Hydronephrosis
6	HP:0000072	Hydroureter
7	HP:0000003	Multicystic kidney dysplasia
8	HP:0000100	Nephrotic syndrome
9	HP:0003812	Phenotypic variability
10	HP:0000110	Renal dysplasia
11	HP:0000089	Renal hypoplasia
12	HP:0000083	Renal insufficiency	HP:0040283
13	HP:0008663	Renal sarcoma
14	HP:0000074	Ureteropelvic junction obstruction

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_001080508.2(TBX18):c.1570C>T (p.His524Tyr)	9096	TBX18	Pathogenic	760905589	RCV000190535;	N	Gene:7945,MedGen:C1840451,OMIM:143400	6	85446657	85446657	NM_001080508.2:c.1570C>T	NP_001073977.1:p.His524Tyr	NC_000006.11:g.85446657G>A	OMIM Allelic Variant:604613.0002	C1840451 143400 Multicystic renal dysplasia, bilateral
NM_001080508.2(TBX18):c.1010delG (p.Gly337Valfs)	9096	TBX18	Pathogenic	869320679	RCV000190534;	N	Gene:7945,MedGen:C1840451,OMIM:143400	6	85448304	85448304	NM_001080508.2:c.1010delG	NP_001073977.1:p.Gly337Valfs	NC_000006.11:g.85448304delC	OMIM Allelic Variant:604613.0001	C1840451 143400 Multicystic renal dysplasia, bilateral
NM_001080508.2(TBX18):c.487A>G (p.Lys163Glu)	9096	TBX18	Pathogenic	797045022	RCV000190536;	N	Gene:7945,MedGen:C1840451,OMIM:143400	6	85472272	85472272	NM_001080508.2:c.487A>G	NP_001073977.1:p.Lys163Glu	NC_000006.11:g.85472272T>C	OMIM Allelic Variant:604613.0003	C1840451 143400 Multicystic renal dysplasia, bilateral