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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: Congenital Abnormalities (D000013)
Parent Node: Kidney Diseases (D007674)
..Starting node ..Hereditary renal agenesis (C536482)
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:

5117

Name:

Hereditary renal agenesis

Definition:

Alternative IDs:

OMIM:191830

ParentIDs:

MESH:D000013|MESH:D007674

TreeNumbers:

C12.777.419/C536482 |C13.351.968.419/C536482 |C16.131/C536482

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536482
MeSH: C536482
OMIM: 191830;

Genes: ITGA8; PAX2; RET;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000007	Autosomal recessive inheritance
3	HP:0003577	Congenital onset
4	HP:0000813	Bicornuate uterus
5	HP:0000316	Hypertelorism
6	HP:0000822	Hypertension
7	HP:0000369	Low-set ears
8	HP:0001562	Oligohydramnios
9	HP:0002009	Potter facies
10	HP:0000786	Primary amenorrhea
11	HP:0000093	Proteinuria
12	HP:0002089	Pulmonary hypoplasia
13	HP:0000104	Renal agenesis
14	HP:0000110	Renal dysplasia
15	HP:0000278	Retrognathia
16	HP:0001762	Talipes equinovarus
17	HP:0000148	Vaginal atresia

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_003638.2(ITGA8):c.2982+2T>C	8516	ITGA8	Pathogenic	587777279	RCV000114393;	N	MedGen:C1619700,OMIM:191830	10	15573047	15573047	NM_003638.2:c.2982+2T>C		NC_000010.10:g.15573047A>G	OMIM Allelic Variant:604063.0001	C1619700 191830 Renal adysplasia
NM_003638.2(ITGA8):c.1622_1626delAGGTG (p.Glu541Alafs)	8516	ITGA8	Pathogenic	587777280	RCV000114394;	N	MedGen:C1619700,OMIM:191830	10	15649814	15649818	NM_003638.2:c.1622_1626delAGGTG	NP_003629.2:p.Glu541Alafs		OMIM Allelic Variant:604063.0002	C1619700 191830 Renal adysplasia
NM_003638.2(ITGA8):c.1219G>A (p.Gly407Arg)	8516	ITGA8	Pathogenic	374664941	RCV000114395;	N	MedGen:C1619700,OMIM:191830	10	15686209	15686209	NM_003638.2:c.1219G>A	NP_003629.2:p.Gly407Arg	NC_000010.10:g.15686209C>T	OMIM Allelic Variant:604063.0003	C1619700 191830 Renal adysplasia
NM_020975.4(RET):c.592C>A (p.Pro198Thr)	5979	RET	Uncertain significance	76736111	RCV000014984;	N	MedGen:C1619700,OMIM:191830	10	43598044	43598044	NM_020975.4:c.592C>A	NP_066124.1:p.Pro198Thr	NC_000010.10:g.43598044C>A	OMIM Allelic Variant:164761.0054	C1619700 191830 Renal adysplasia
NM_020630.4(RET):c.2332G>A (p.Val778Ile)	5979	RET	Uncertain significance	75686697	RCV000014983; RCV000021847; RCV000206045;	N	MedGen:C1619700,OMIM:191830; MedGen:CN073359, Orphanet:ORPHA653,SNOMED CT:61808009; MedGen:CN076151	10	43613868	43613868	NM_020630.4:c.2332G>A	NP_065681.1:p.Val778Ile	NC_000010.10:g.43613868G>A	OMIM Allelic Variant:164761.0053	CN076151 MEN2 phenotype: Unknown; CN073359 Multiple endocrine neoplasia, type 2; C1619700 191830 Renal adysplasia
NM_006953.3(UPK3A):c.*107T>C	7380	UPK3A	Uncertain significance	558490093	RCV000000922;	N	MedGen:C1619700,OMIM:191830	22	45691707	45691707	NM_006953.3:c.*107T>C		NC_000022.10:g.45691707T>C	OMIM Allelic Variant:611559.0002	C1619700 191830 Renal adysplasia