MCID: WLF004
MIFTS: 63

Wolfram Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Wolfram Syndrome

MalaCards integrated aliases for Wolfram Syndrome:

Name: Wolfram Syndrome 54 12 50 24 25 56 29 13 52 42 14 69
Didmoad 12 50 24 25 71
Wolfram Syndrome 1 12 71 14
Didmoad Syndrome 50 25 56
Wfs 12 50 71
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 12 29
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 50 25
Wfs1 12 71
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 71
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 56
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 25
Didmoadud 25

Characteristics:

Orphanet epidemiological data:

56
wolfram syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom),1-9/1000000 (India),1-9/1000000 (Worldwide),1-9/100000,1-9/1000000 (Japan),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
wolfram syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Wolfram Syndrome

OMIM : 54
Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes mellitus, optic atrophy, diabetes insipidus, and deafness (DIDMOAD). Additional clinical features may include renal abnormalities, ataxia, dementia or mental retardation, and diverse psychiatric illnesses. The minimal diagnostic criteria for Wolfram syndrome are optic atrophy and diabetes mellitus of juvenile onset. Hearing impairment in Wolfram syndrome is typically progressive and mainly affects the higher frequencies, but a small fraction of affected individuals have congenital deafness (summary by Rendtorff et al., 2011). Autosomal dominant mutations in the WFS1 gene have been found to cause low-frequency nonsyndromic deafness (600965) as well as a Wolfram syndrome-like phenotype (614296) in which affected individuals have hearing impairment with diabetes mellitus and/or optic atrophy. (222300)

MalaCards based summary : Wolfram Syndrome, also known as didmoad, is related to wolfram syndrome 2 and wolfram syndrome-like disease, and has symptoms including optic atrophy, nystagmus and dysarthria. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Vascular smooth muscle contraction and Glucose / Energy Metabolism. The drugs Acetylcysteine and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and pituitary, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).

Genetics Home Reference : 25 Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders.

NIH Rare Diseases : 50 wolfram syndrome, which is also known by the acronym didmoad, is an inherited condition characterized by diabetes insipidus (di), childhood-onset diabetes mellitus (dm), a gradual loss of vision caused by optic atrophy (oa), and deafness (d). there are two types of wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. type 1 is caused by changes (mutations) in the wfs1 gene, while type 2 is caused by mutations in the cisd2 gene. both forms are inherited in an autosomal recessive manner. treatment is symptomatic and supportive. last updated: 12/8/2014

UniProtKB/Swiss-Prot : 71 Wolfram syndrome 1: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses.

Wikipedia : 72 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more...

Related Diseases for Wolfram Syndrome

Graphical network of the top 20 diseases related to Wolfram Syndrome:



Diseases related to Wolfram Syndrome

Symptoms & Phenotypes for Wolfram Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
optic atrophy
nystagmus
ptosis
pigmentary retinopathy

Growth- Other:
growth retardation

Genitourinary- Kidneys:
hydronephrosis

Genitourinary- Bladder:
neurogenic bladder

Genitourinary- Ureters:
hydroureter

Skeletal- Hands:
limited mobility of proximal interphalangeal joint

Neurologic- Central Nervous System:
dysphagia
dysarthria
ataxia
tremor
seizures
more
Head And Neck- Ears:
hearing loss, sensorineural

Cardiovascular- Heart:
cardiomyopathy

Endocrine Features:
diabetes mellitus
hypothyroidism
diabetes insipidus

Genitourinary- Internal Genitalia Male:
testicular atrophy


Clinical features from OMIM:

222300

Human phenotypes related to Wolfram Syndrome:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
2 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
3 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
4 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
5 recurrent urinary tract infections 56 32 frequent (33%) Frequent (79-30%) HP:0000010
6 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
7 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
8 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
9 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
10 hallucinations 56 32 occasional (7.5%) Occasional (29-5%) HP:0000738
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001638
13 myopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003198
14 cerebral cortical atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0002120
15 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
16 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
17 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
18 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
19 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
20 diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000819
21 dementia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000726
22 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
23 diabetes insipidus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000873
24 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
25 polydipsia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001959
26 ophthalmoplegia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000602
27 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
28 nephropathy 56 32 frequent (33%) Frequent (79-30%) HP:0000112
29 central apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002871
30 dysautonomia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002459
31 dysuria 56 32 frequent (33%) Frequent (79-30%) HP:0100518
32 sleep disturbance 56 32 occasional (7.5%) Occasional (29-5%) HP:0002360
33 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
34 behavioral abnormality 56 32 Occasional (29-5%) HP:0000708
35 male hypogonadism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000026
36 gastric ulcer 56 32 occasional (7.5%) Occasional (29-5%) HP:0002592
37 dysphagia 32 HP:0002015
38 tremor 32 HP:0001337
39 cerebral atrophy 32 HP:0002059
40 ptosis 32 HP:0000508
41 pigmentary retinopathy 32 HP:0000580
42 megaloblastic anemia 32 HP:0001889
43 thrombocytopenia 32 HP:0001873
44 hydronephrosis 32 HP:0000126
45 neurogenic bladder 32 HP:0000011
46 hypogonadism 56 Occasional (29-5%)
47 sideroblastic anemia 32 HP:0001924
48 hydroureter 32 HP:0000072
49 hypothyroidism 32 HP:0000821
50 testicular atrophy 32 HP:0000029

UMLS symptoms related to Wolfram Syndrome:


ataxia, seizures, tremor

MGI Mouse Phenotypes related to Wolfram Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.29 ADCY8 ATP2B2 ATP2B4 AVP BAMBI CISD2
2 growth/size/body region MP:0005378 10.18 WFS1 AATF ADCY8 ATP2B2 BAMBI CISD2
3 cardiovascular system MP:0005385 10.11 ATP2B4 CISD2 DRD5 EFEMP1 HSPA5 INS
4 homeostasis/metabolism MP:0005376 10.11 ADCY8 ATP2B2 AVP CISD2 EFEMP1 HSPA5
5 endocrine/exocrine gland MP:0005379 10.09 CISD2 DRD5 EFEMP1 FNDC3A INS ITPR3
6 integument MP:0010771 10.06 ITPR3 PCSK2 RECK SCG5 WFS1 ADCY8
7 mortality/aging MP:0010768 10.03 AATF AVP CISD2 DRD5 EFEMP1 HSPA5
8 nervous system MP:0003631 9.85 INS ITPR3 RECK SCG5 ADCY8 ATP2B2
9 renal/urinary system MP:0005367 9.5 PCSK2 DRD5 EFEMP1 HSPA5 INS AVP
10 reproductive system MP:0005389 9.28 ATP2B2 ATP2B4 EFEMP1 FNDC3A HSPA5 INS

Drugs & Therapeutics for Wolfram Syndrome

Drugs for Wolfram Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2, Phase 3 616-91-1 12035
2
Deferiprone Approved Phase 2, Phase 3 30652-11-0 2972
3
Iron Approved Phase 2, Phase 3 7439-89-6 23925
4
Metformin Approved Phase 2, Phase 3 657-24-9 14219 4091
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8 Hypoglycemic Agents Phase 2, Phase 3
9 Incretins Phase 2, Phase 3
10 Antidotes Phase 2, Phase 3
11 Anti-Infective Agents Phase 2, Phase 3
12 Antioxidants Phase 2, Phase 3
13 Antiviral Agents Phase 2, Phase 3
14 Chelating Agents Phase 2, Phase 3
15 Dipeptidyl-Peptidase IV Inhibitors Phase 2, Phase 3
16 Expectorants Phase 2, Phase 3
17 HIV Protease Inhibitors Phase 2, Phase 3
18 Iron Chelating Agents Phase 2, Phase 3
19 N-monoacetylcystine Phase 2, Phase 3
20
protease inhibitors Phase 2, Phase 3
21 Protective Agents Phase 2, Phase 3
22 Respiratory System Agents Phase 2, Phase 3
23 Sitagliptin Phosphate Phase 2, Phase 3
24
Dantrolene Approved Phase 1, Phase 2 7261-97-4 2952 6914273
25 Neuromuscular Agents Phase 1, Phase 2
26 Peripheral Nervous System Agents Phase 1, Phase 2
27
Exenatide Approved, Investigational 141758-74-9 15991534
28 Glucagon-Like Peptide 1
29 insulin
30 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy Not yet recruiting NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
2 A Clinical Trial of Dantrolene Sodium in Pediatric and Adult Patients With Wolfram Syndrome Recruiting NCT02829268 Phase 1, Phase 2 dantrolene sodium
3 GLP Analogs for Diabetes in Wolfram Syndrome Patients Unknown status NCT01302327 Exenatide
4 Tracking Neurodegeneration in Early Wolfram Syndrome Recruiting NCT02455414
5 Wolfram Syndrome International Registry and Clinical Study Recruiting NCT02841553
6 Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome Withdrawn NCT00347464

Search NIH Clinical Center for Wolfram Syndrome

Cochrane evidence based reviews: wolfram syndrome

Genetic Tests for Wolfram Syndrome

Genetic tests related to Wolfram Syndrome:

id Genetic test Affiliating Genes
1 Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 29
2 Wolfram Syndrome 29 24 WFS1

Anatomical Context for Wolfram Syndrome

MalaCards organs/tissues related to Wolfram Syndrome:

39
Brain, Eye, Pituitary, Pancreas, Kidney, Hypothalamus

Publications for Wolfram Syndrome

Articles related to Wolfram Syndrome:

(show top 50) (show all 249)
id Title Authors Year
1
Glutathione system in Wolfram syndrome 1a89deficient mice. ( 28901522 )
2017
2
Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome. ( 28856555 )
2017
3
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28475771 )
2017
4
Wfs1- deficient rats develop primary symptoms of Wolfram syndrome: insulin-dependent diabetes, optic nerve atrophy and medullary degeneration. ( 28860598 )
2017
5
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions. ( 28335035 )
2017
6
SERUM METABOLIC FINGERPRINTING IDENTIFIED PUTATIVELY ANNOTATED SPHINGANINE ISOMER AS A BIOMARKER OF WOLFRAM SYNDROME. ( 28895401 )
2017
7
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome. ( 28271591 )
2017
8
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome. ( 26888576 )
2016
9
Wolfram Syndrome. Case report. ( 28132072 )
2016
10
A novel compound heterozygous mutation in an adolescent with insulin-dependent diabetes: The challenge of characterizing Wolfram syndrome. ( 27657458 )
2016
11
GLP-1-RA corrects mitochondrial labile iron accumulation and improves I^-cell function in type 2 Wolfram syndrome. ( 27459537 )
2016
12
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset. ( 27212798 )
2016
13
Wolfram Syndrome: Diagnosis, Management, and Treatment. ( 26742931 )
2016
14
Association of Wolfram syndrome with Fallot tetralogy in a girl. ( 27164349 )
2016
15
Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome. ( 27617222 )
2016
16
Fatal Pulmonary Embolism Due to Inherited Thrombophilia Factors in a Child With Wolfram Syndrome. ( 27379531 )
2016
17
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome. ( 27045389 )
2016
18
c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness. ( 26773575 )
2016
19
Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees. ( 27412528 )
2016
20
A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome. ( 26943604 )
2016
21
Clinical and molecular genetic analysis in three children with Wolfram Syndrome: a novel WFS1 mutation (c.2534T>A). ( 27468121 )
2016
22
Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome. ( 27434582 )
2016
23
Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1. ( 27069934 )
2016
24
Be aware of Wolfram syndrome when examining ataxic patients. ( 27314960 )
2016
25
Clinical utility gene card for: Wolfram syndrome. ( 27222289 )
2016
26
A new mutation in a patient with Wolfram syndrome. ( 27452625 )
2016
27
Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations. ( 25740874 )
2015
28
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene]. ( 25764693 )
2015
29
Deletion of the Wolfram syndrome-related gene Wfs1 results in increased sensitivity to ethanol in female mice. ( 25725334 )
2015
30
Identification of unsuspected Wolfram syndrome cases through clinical assessment and WFS1 gene screening in type 1 diabetes mellitus patients. ( 25895475 )
2015
31
Clinical variability in hereditary optic neuropathies: Two novel mutations in two patients with dominant optic atrophy and Wolfram syndrome. ( 26586986 )
2015
32
Maternal uniparental disomy of chromosomeA 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. ( 26169481 )
2015
33
Retinal thinning as a marker of disease progression in patients with Wolfram syndrome. ( 25715420 )
2015
34
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome. ( 26017216 )
2015
35
A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant. ( 26819810 )
2015
36
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. ( 25679031 )
2015
37
Glycemic variability in patients with Wolfram syndrome is lower than in type 1 diabetes. ( 25916214 )
2015
38
Selective cognitive and psychiatric manifestations in Wolfram Syndrome. ( 26025012 )
2015
39
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. ( 25211237 )
2014
40
Sarco(endo)plasmic reticulum ATPase is a molecular partner of Wolfram syndrome 1 protein, which negatively regulates its expression. ( 25274773 )
2014
41
Wolfram syndrome 2: a novel CISD2 mutation identified in Italian siblings. ( 25371195 )
2014
42
Ophthalmologic correlates of disease severity in children and adolescents with Wolfram syndrome. ( 25439303 )
2014
43
Three cases of Wolfram syndrome with different clinical aspects. ( 25210753 )
2014
44
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome. ( 25542043 )
2014
45
A calcium-dependent protease as a potential therapeutic target for Wolfram syndrome. ( 25422446 )
2014
46
Management of bladder dysfunction in Wolfram syndrome with Mitrofanoff appendicovesicostomy: long-term follow-up. ( 25783330 )
2014
47
Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected. ( 24497219 )
2014
48
Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families. ( 25173644 )
2014
49
Delayed recognition of Wolfram syndrome frequently misdiagnosed as type 1 diabetes with early chronic complications. ( 24464595 )
2014
50
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. ( 25056293 )
2014

Variations for Wolfram Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Wolfram Syndrome:

71 (show all 22)
id Symbol AA change Variation ID SNP ID
1 WFS1 p.Pro504Leu VAR_005842 rs28937892
2 WFS1 p.Gly695Val VAR_005844 rs28937891
3 WFS1 p.Pro724Leu VAR_005845 rs28937890
4 WFS1 p.Glu169Lys VAR_009109 rs148953711
5 WFS1 p.Pro292Ser VAR_009110 rs746923441
6 WFS1 p.Ile296Ser VAR_009111
7 WFS1 p.Gly437Arg VAR_009114 rs147974629
8 WFS1 p.Cys690Arg VAR_009116 rs754373473
9 WFS1 p.Trp700Cys VAR_009117
10 WFS1 p.Gly736Ser VAR_009118 rs71532864
11 WFS1 p.Pro885Leu VAR_009119 rs372855769
12 WFS1 p.Ala58Val VAR_011305 rs369671890
13 WFS1 p.Ala126Thr VAR_011306 rs145639028
14 WFS1 p.Ser443Ile VAR_011308
15 WFS1 p.Gly780Arg VAR_011313
16 WFS1 p.Arg818Cys VAR_011314 rs35932623
17 WFS1 p.Ala133Thr VAR_014034 rs372249044
18 WFS1 p.Tyr669Cys VAR_014038
19 WFS1 p.Tyr110Asn VAR_029499
20 WFS1 p.Arg457Ser VAR_029502 rs113446173
21 WFS1 p.Arg629Trp VAR_029505 rs71530910
22 WFS1 p.Arg558Cys VAR_068343 rs199946797

ClinVar genetic disease variations for Wolfram Syndrome:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 WFS1 WFS1, 2-BP DEL, 2812TC deletion Pathogenic
2 WFS1 WFS1, 15-BP DEL, NT1685 deletion Pathogenic
3 WFS1 NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu) single nucleotide variant Pathogenic rs28937890 GRCh37 Chromosome 4, 6303693: 6303693
4 WFS1 NM_006005.3(WFS1): c.2084G> T (p.Gly695Val) single nucleotide variant Pathogenic rs28937891 GRCh37 Chromosome 4, 6303606: 6303606
5 WFS1 NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter) single nucleotide variant Pathogenic rs104893879 GRCh37 Chromosome 4, 6303466: 6303466
6 WFS1 NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu) single nucleotide variant Pathogenic rs28937892 GRCh37 Chromosome 4, 6303033: 6303033
7 WFS1 WFS1, 7-BP INS, NT1610 insertion Pathogenic
8 WFS1 WFS1, 9-BP DEL, NT1380 deletion Pathogenic
9 WFS1 WFS1, 460, G-A, +1 single nucleotide variant Pathogenic
10 WFS1 NM_006005.3(WFS1): c.676C> T (p.Gln226Ter) single nucleotide variant Pathogenic rs104893880 GRCh37 Chromosome 4, 6293688: 6293688
11 WFS1 NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter) single nucleotide variant Pathogenic rs104893881 GRCh37 Chromosome 4, 6303977: 6303977
12 WFS1 NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs) duplication Pathogenic rs587776598 GRCh37 Chromosome 4, 6290807: 6290822
13 WFS1 NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr) single nucleotide variant Pathogenic/Likely pathogenic rs28937893 GRCh37 Chromosome 4, 6303668: 6303668
14 WFS1 WFS1, 16-BP DEL, NT1362 deletion Pathogenic
15 WFS1 NM_006005.3(WFS1): c.2119G> T (p.Val707Phe) single nucleotide variant Pathogenic rs71524377 GRCh37 Chromosome 4, 6303641: 6303641
16 WFS1 WFS1, 8-BP DEL, NT2106 deletion Pathogenic
17 WFS1 NM_006005.3(WFS1): c.2051C> T (p.Ala684Val) single nucleotide variant Pathogenic rs387906930 GRCh37 Chromosome 4, 6303573: 6303573
18 WFS1 WFS1, 3-BP DEL, VAL415DEL deletion Pathogenic
19 WFS1 WFS1, 4-BP DEL, 1387CTCT deletion Pathogenic
20 WFS1 NM_006005.3(WFS1): c.1441_1447dupCTGAAGG (p.Val483Alafs) duplication Pathogenic rs727503745 GRCh37 Chromosome 4, 6302963: 6302969
21 WFS1 NM_006005.3(WFS1): c.124C> T (p.Arg42Ter) single nucleotide variant Pathogenic rs71530923 GRCh37 Chromosome 4, 6279306: 6279306
22 WFS1 NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg) single nucleotide variant Likely pathogenic rs797045075 GRCh37 Chromosome 4, 6303785: 6303785
23 WFS1 NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs) deletion Pathogenic/Likely pathogenic rs797045076 GRCh37 Chromosome 4, 6304170: 6304173
24 WFS1 NM_006005.3(WFS1): c.873C> G (p.Tyr291Ter) single nucleotide variant Pathogenic rs777580652 GRCh38 Chromosome 4, 6300668: 6300668
25 WFS1 NM_006005.3(WFS1): c.2369C> A (p.Ser790Ter) single nucleotide variant Pathogenic rs369107336 GRCh38 Chromosome 4, 6302164: 6302164
26 WFS1 NM_006005.3(WFS1): c.1060_1062delTTC (p.Phe354del) deletion Pathogenic rs876657735 GRCh37 Chromosome 4, 6302582: 6302584

Expression for Wolfram Syndrome

Search GEO for disease gene expression data for Wolfram Syndrome.

Pathways for Wolfram Syndrome

GO Terms for Wolfram Syndrome

Cellular components related to Wolfram Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.35 ATP2B2 ATP2B4 CISD1 CISD2 PCSK2
2 secretory granule GO:0030141 8.8 AVP PCSK2 SCG5

Biological processes related to Wolfram Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium ion transport GO:0006816 9.61 ATP2B2 ATP2B4 ITPR3
2 calcium ion transmembrane transport GO:0070588 9.58 ATP2B2 ATP2B4 ITPR3
3 peptide hormone processing GO:0016486 9.37 PCSK2 SCG5
4 regulation of cardiac conduction GO:1903779 9.33 ATP2B2 ATP2B4 ITPR3
5 positive regulation of adenylate cyclase activity GO:0045762 9.32 DRD5 WFS1
6 ER overload response GO:0006983 9.26 HSPA5 WFS1
7 negative regulation of NAD(P)H oxidase activity GO:0033861 8.96 DRD5 INS
8 renal water homeostasis GO:0003091 8.8 ADCY8 AVP WFS1

Molecular functions related to Wolfram Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 2 iron, 2 sulfur cluster binding GO:0051537 8.96 CISD1 CISD2
2 calcium-transporting ATPase activity GO:0005388 8.62 ATP2B2 ATP2B4

Sources for Wolfram Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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