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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: Abnormalities, Multiple (D000015)
Parent Node: Deaf-Blind Disorders (D054062)
Parent Node: Diabetes Insipidus (D003919)
Parent Node: Diabetes Mellitus, Type 1 (D003922)
Parent Node: Optic Atrophies, Hereditary (D015418)
..Starting node ..Wolfram Syndrome (D014929)
Child Nodes:
........Wolfram-Like Syndrome, Autosomal Dominant (C565631)
Sister Nodes:
..Berk-Tabatznik syndrome (C535432)
..Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy (C535642)
..Hagemoser Weinstein Bresnick syndrome (C537626)
..Konigsmark Knox Hussels syndrome (C537214)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Necrotizing Encephalomyelopathy, Subacute, of Leigh, Adult (C563530)
..Optic atrophy 1 and deafness (C537124)
..Optic Atrophy 4 (C565343)
..Optic atrophy 5 (C537126)
..Optic atrophy 6 (C537127)
..Optic Atrophy 7 (C567833)
..Optic atrophy and cataract, autosomal dominant (C537128)
..Optic atrophy polyneuropathy deafness (C537129)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Optic Atrophy with Negative Electroretinograms (C563494)
..Optic Atrophy, Autosomal Dominant (D029241)
..Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..Optic Atrophy, Hereditary, Leber (D029242) 1
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Wolfram Syndrome (D014929) 1
..Wolfram Syndrome, Mitochondrial Form (C564012)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11779

Name:

Wolfram Syndrome

Definition:

A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.

Alternative IDs:

OMIM:222300

ParentIDs:

MESH:D000015|MESH:D003919|MESH:D003922|MESH:D015418|MESH:D054062

TreeNumbers:

C09.218.458.341.186.500.750 |C10.292.700.225.500.980 |C10.574.500.662.980 |C10.597.751.418.341.186.500.750 |C10.597.751.941.162.625.750 |C11.270.564.980 |C11.640.451.451.980 |C11.966.075.375.750 |C12.777.419.135.875 |C13.351.968.419.135.875 |C16.131.077.299.750 |C1

Synonyms:

Slim Mappings:

Reference:

MedGen: D014929
MeSH: D014929
OMIM: 222300;

Genes: WFS1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0000708	Behavioral abnormality
4	HP:0001638	Cardiomyopathy
5	HP:0002059	Cerebral atrophy
6	HP:0000873	Diabetes insipidus
7	HP:0000819	Diabetes mellitus
8	HP:0001260	Dysarthria
9	HP:0002015	Dysphagia
10	HP:0001510	Growth delay
11	HP:0000126	Hydronephrosis
12	HP:0000072	Hydroureter
13	HP:0000821	Hypothyroidism
14	HP:0001249	Intellectual disability
15	HP:0006217	Limited mobility of proximal interphalangeal joint
16	HP:0001889	Megaloblastic anemia
17	HP:0000011	Neurogenic bladder
18	HP:0000639	Nystagmus
19	HP:0000648	Optic atrophy
20	HP:0000580	Pigmentary retinopathy
21	HP:0000508	Ptosis
22	HP:0001250	Seizure
23	HP:0000407	Sensorineural hearing impairment
24	HP:0001924	Sideroblastic anemia
25	HP:0002401	Stroke-like episode
26	HP:0000029	Testicular atrophy
27	HP:0001873	Thrombocytopenia
28	HP:0001337	Tremor

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.124C>T (p.Arg42Ter)	7466	WFS1	Pathogenic	71530923	RCV000169684;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6279306	6279306	NM_006005.3:c.124C>T	NP_005996.2:p.Arg42Ter	NC_000004.11:g.6279306C>T	-	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.409_424dup16 (p.Val142Glyfs)	7466	WFS1	Pathogenic	587776598	RCV000004777;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6290807	6290822	NM_006005.3:c.409_424dup16	NP_005996.2:p.Val142Glyfs		OMIM Allelic Variant:606201.0013	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.676C>T (p.Gln226Ter)	7466	WFS1	Pathogenic	104893880	RCV000004774;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6293688	6293688	NM_006005.3:c.676C>T	NP_005996.2:p.Gln226Ter	NC_000004.11:g.6293688C>T	OMIM Allelic Variant:606201.0010	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.1060_1062delTTC (p.Phe354del)	7466	WFS1	Pathogenic	-1	RCV000215662;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6302582	6302584	NM_006005.3:c.1060_1062delTTC	NP_005996.2:p.Phe354del		-	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.1441_1447dupCTGAAGG (p.Val483Alafs)	7466	WFS1	Pathogenic	727503745	RCV000152660;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6302963	6302969	NM_006005.3:c.1441_1447dupCTGAAGG	NP_005996.2:p.Val483Alafs	NC_000004.11:g.6302963_6302969dupCTGAAGG	-	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)	7466	WFS1	Pathogenic	28937892	RCV000004770;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303033	6303033	NM_006005.3:c.1511C>T	NP_005996.2:p.Pro504Leu	NC_000004.11:g.6303033C>T	OMIM Allelic Variant:606201.0006	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)	7466	WFS1	Likely pathogenic	199946797	RCV000180290;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303194	6303194	NM_006005.3:c.1672C>T	NP_005996.2:p.Arg558Cys	NC_000004.11:g.6303194C>T	-	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter)	7466	WFS1	Pathogenic	104893879	RCV000004769;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303466	6303466	NM_006005.3:c.1944G>A	NP_005996.2:p.Trp648Ter	NC_000004.11:g.6303466G>A	OMIM Allelic Variant:606201.0005	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
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.2084G>T (p.Gly695Val)	7466	WFS1	Pathogenic	28937891	RCV000004768;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303606	6303606	NM_006005.3:c.2084G>T	NP_005996.2:p.Gly695Val	NC_000004.11:g.6303606G>T	OMIM Allelic Variant:606201.0004	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.2119G>T (p.Val707Phe)	7466	WFS1	Pathogenic	71524377	RCV000023510;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303641	6303641	NM_006005.3:c.2119G>T	NP_005996.2:p.Val707Phe	NC_000004.11:g.6303641G>A,NC_000004.11:g.6303641G>T	OMIM Allelic Variant:606201.0024	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)	7466	WFS1	Likely pathogenic;Pathogenic	28937893	RCV000152686; RCV000004778;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:C1833021,OMIM:600965	4	6303668	6303668	NM_006005.3:c.2146G>A	NP_005996.2:p.Ala716Thr	NC_000004.11:g.6303668G>A	OMIM Allelic Variant:606201.0014	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; C1833021 600965 WFS1-Related Disorders
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu)	7466	WFS1	Pathogenic	28937890	RCV000004767;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303693	6303693	NM_006005.3:c.2171C>T	NP_005996.2:p.Pro724Leu	NC_000004.11:g.6303693C>T	OMIM Allelic Variant:606201.0003	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.2263T>C (p.Cys755Arg)	7466	WFS1	Likely pathogenic	797045075	RCV000191145;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303785	6303785	NM_006005.3:c.2263T>C	NP_005996.2:p.Cys755Arg	NC_000004.11:g.6303785T>C	-	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.2455C>T (p.Gln819Ter)	7466	WFS1	Pathogenic	104893881	RCV000004775;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009	4	6303977	6303977	NM_006005.3:c.2455C>T	NP_005996.2:p.Gln819Ter	NC_000004.11:g.6303977C>T	OMIM Allelic Variant:606201.0011	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness
NM_006005.3(WFS1):c.2648_2651delTCTT (p.Phe883Serfs)	7466	WFS1	Pathogenic	797045076	RCV000191146; RCV000200365;	N	MedGen:C0043207,OMIM:222300,ORPHA:3463,SNOMED CT:70694009; MedGen:CN221809	4	6304169	6304173	NM_006005.3:c.2648_2651delTCTT	NP_005996.2:p.Phe883Serfs	NC_000004.11:g.6304170_6304173delTCTT	OMIM Allelic Variant:606201.0012	C0043207 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness; CN221809 not provided