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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

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: Wolfram Syndrome (D014929)
..Starting node ..Wolfram-Like Syndrome, Autosomal Dominant (C565631)
Child Nodes:
Sister Nodes:
..Wolfram-Like Syndrome, Autosomal Dominant (C565631)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11778

Name:

Wolfram-Like Syndrome, Autosomal Dominant

Definition:

Alternative IDs:

ParentIDs:

MESH:D014929

TreeNumbers:

C09.218.458.341.186.500.750/C565631 |C10.292.700.225.500.980/C565631 |C10.574.500.662.980/C565631 |C10.597.751.418.341.186.500.750/C565631 |C10.597.751.941.162.625.750/C565631 |C11.270.564.980/C565631 |C11.640.451.451.980/C565631 |C11.966.075.375.750/C565631 |C1

Synonyms:

Slim Mappings:

Reference:

MedGen: C565631
MeSH: C565631
OMIM: 614296;

Genes: WFS1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000739	Anxiety	HP:0040283
3	HP:0000717	Autism	HP:0040283
4	HP:0000716	Depression
5	HP:0000819	Diabetes mellitus	HP:0040283
6	HP:0000501	Glaucoma	HP:0040283
7	HP:0000738	Hallucinations	HP:0040283
8	HP:0000365	Hearing impairment
9	HP:0000833	obsolete Glucose intolerance	HP:0040283
10	HP:0000648	Optic atrophy
11	HP:0000709	Psychosis	HP:0040283
12	HP:0100753	Schizophrenia	HP:0040283

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_006005.3(WFS1):c.2051C>T (p.Ala684Val)	7466	WFS1	Pathogenic	387906930	RCV000023515; RCV000023514; RCV000200668;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:C1857286,OMIM:614296; MedGen:CN221809	4	6303573	6303573	NM_006005.3:c.2051C>T	NP_005996.2:p.Ala684Val	NC_000004.11:g.6303573C>T	OMIM Allelic Variant:606201.0028	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; CN221809 not provided; C1857286 614296 Wolfram-like syndrome, autosomal dominant
NM_006005.3(WFS1):c.2338G>A (p.Gly780Ser)	7466	WFS1	Pathogenic	387906931	RCV000023518;	N	MedGen:C1857286,OMIM:614296	4	6303860	6303860	NM_006005.3:c.2338G>A	NP_005996.2:p.Gly780Ser	NC_000004.11:g.6303860G>A	OMIM Allelic Variant:606201.0031	C1857286 614296 Wolfram-like syndrome, autosomal dominant
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	7466	WFS1	Pathogenic	74315205	RCV000020637; RCV000004784;	N	MedGen:C1833021,OMIM:600965; MedGen:C1857286,OMIM:614296	4	6304112	6304112	NM_006005.3:c.2590G>A	NP_005996.2:p.Glu864Lys	NC_000004.11:g.6304112G>A	OMIM Allelic Variant:606201.0020	C1833021 600965 WFS1-Related Disorders; C1857286 614296 Wolfram-like syndrome, autosomal dominant