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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

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

Disease Browser
Parent Node: 46, XY Disorders of Sex Development (D058490)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Kidney Failure, Chronic (D007676)
..Starting node ..Frasier Syndrome (D052159)
Child Nodes:
Sister Nodes:
..Frasier Syndrome (D052159)
..Nephropathy deafness hyperparathyroidism (C536401)
..Nephropathy, Progressive, with Deafness (C563713)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4410

Name:

Frasier Syndrome

Definition:

A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a normal 46,XX karyotype. It is caused by donor splice-site mutations of Wilms tumor suppressor gene (GENES, WILMS TUMOR) on chromosome 11.

Alternative IDs:

OMIM:136680

ParentIDs:

MESH:D007676|MESH:D030342|MESH:D058490

TreeNumbers:

C12.706.316.096.624 |C12.777.419.780.750.500.500 |C13.351.875.253.096.624 |C13.351.968.419.780.750.500.500 |C16.131.939.316.096.624 |C16.320.306 |C19.391.119.096.624

Synonyms:

Syndrome, Frasier

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D052159
MeSH: D052159
OMIM: 136680;

Genes: WT1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000097	Focal segmental glomerulosclerosis
3	HP:0000133	Gonadal dysgenesis
4	HP:0000037	Male pseudohermaphroditism
5	HP:0000100	Nephrotic syndrome
6	HP:0000149	Ovarian gonadoblastoma
7	HP:0000786	Primary amenorrhea
8	HP:0001428	Somatic mutation
9	HP:0003774	Stage 5 chronic kidney disease

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_001198551.1(WT1):c.787+15T>A	7490	WT1	Pathogenic	587776575	RCV000003655;	N	MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000	11	32413512	32413512	NM_001198551.1:c.787+15T>A		11:g.32413512A>T	OMIM Allelic Variant:607102.0019	C0950122 136680 Frasier syndrome
NM_024426.4(WT1):c.1432+5G>A	7490	WT1	Pathogenic	587776576	RCV000030876; RCV000003665; RCV000208283;	N	MedGen:C0950121,OMIM:194080,ORPHA:220,SNOMED CT:236385009; MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000; MedGen:CN043611	11	32413513	32413513	NM_024426.4:c.1432+5G>A			OMIM Allelic Variant:607102.0009,OMIM Allelic Variant:607102.0020	C0950121 194080 Drash syndrome; C0950122 136680 Frasier syndrome; CN043611 Hereditary Nephrotic Syndromes
NM_024426.4(WT1):c.1432+4C>T	7490	WT1	Pathogenic	587776577	RCV000003674; RCV000003675; RCV000157584;	N	MedGen:C0268747,OMIM:256370,SNOMED CT:111406002,SNOMED CT:236383002; MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000; MedGen:CN043611	11	32413514	32413514	NM_024426.4:c.1432+4C>T		11:g.32413514G>A	OMIM Allelic Variant:607102.0018	C0268747 256370 Diffuse mesangial sclerosis; C0950122 136680 Frasier syndrome; CN043611 Hereditary Nephrotic Syndromes
NM_024426.4(WT1):c.1378T>C (p.Phe460Leu)	7490	WT1	Pathogenic	28941779	RCV000003679;	N	MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000	11	32413572	32413572	NM_024426.4:c.1378T>C	NP_077744.3:p.Phe460Leu	NC_000011.9:g.32413572A>G	OMIM Allelic Variant:607102.0025	C0950122 136680 Frasier syndrome
NM_024426.4(WT1):c.1372C>T (p.Arg458Ter)	7490	WT1	Pathogenic	121907909	RCV000003666; RCV000030877;	N	MedGen:C0950122,OMIM:136680,ORPHA:347,SNOMED CT:445431000; MedGen:CN033288,OMIM:194070	11	32413578	32413578	NM_024426.4:c.1372C>T	NP_077744.3:p.Arg458Ter	NC_000011.9:g.32413578G>A	OMIM Allelic Variant:607102.0010,OMIM Allelic Variant:607102.0024	C0950122 136680 Frasier syndrome; CN033288 194070 Wilms tumor 1