MCID: WLF004
MIFTS: 61

Wolfram Syndrome malady

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

Aliases & Classifications for Wolfram Syndrome

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Aliases & Descriptions for Wolfram Syndrome:

Name: Wolfram Syndrome 49 10 11 45 22 23 47 12 51 36 24 65
Didmoad 10 45 22 23 67
Didmoad Syndrome 45 23 51
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness 45 23
Diabetes Mellitus and Insipidus with Optic Atrophy and Deafness 10 24
Wfs 45 67
 
Diabetes Insipidus and Mellitus with Optic Atrophy and Deafness Syndrome 67
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome 51
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness 23
Wolfram Syndrome 1 67
Didmoadud 23
Wfs1 67

Characteristics:

Orphanet epidemiological data:

51
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

HPO:

61
wolfram syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 222300
Disease Ontology10 DOID:10632
MeSH36 D014929
NCIt42 C35133
SNOMED-CT59 70694009
Orphanet51 3463
MESH via Orphanet37 D014929
UMLS via Orphanet66 C0043207
MedGen34 C0043207
UMLS65 C0043207

Summaries for Wolfram Syndrome

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OMIM:49 Wolfram syndrome-1 is a rare and severe autosomal recessive neurodegenerative disease characterized by diabetes... (222300) more...

MalaCards based summary: Wolfram Syndrome, also known as didmoad, is related to wolfram syndrome 2 and wolfram syndrome-like disease, and has symptoms including hearing impairment, optic atrophy and diabetes mellitus. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways are Biogenic Amine Synthesis and Dopamine metabolism. Affiliated tissues include pituitary, eye and brain, and related mouse phenotypes are integument and normal.

Disease Ontology:10 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:23 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:45 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:67 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:68 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more...

Related Diseases for Wolfram Syndrome

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



Diseases related to wolfram syndrome

Symptoms for Wolfram Syndrome

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Symptoms by clinical synopsis from OMIM:

222300

Clinical features from OMIM:

222300

Symptoms:

 51 (show all 49)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • hearing loss/hypoacusia/deafness
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • diabetes insipidus
  • diabetes mellitus
  • autosomal recessive inheritance
  • visual loss/blindness/amblyopia
  • nystagmus
  • renal disease/nephropathy
  • recurrent urinary infections
  • hypoglycemia
  • ataxia/incoordination/trouble of the equilibrium
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • psychic/behavioural troubles
  • glaucoma
  • cataract/lens opacification
  • retinopathy
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • apnea/sleep apnea
  • repeat respiratory infections
  • cardiomyopathy/hypertrophic/dilated
  • heart/cardiac failure
  • bladder and ureter anomalies
  • renal failure
  • hypothyroidy
  • late puberty/hypogonadism/hypogenitalism
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • dysautonomia/autonomous nervous sytem anomalies
  • peripheral neuropathy
  • sleep and vigilance disorders
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • psychosis/schizophrenia/maniac disorder
  • myopathy
  • restricted joint mobility/joint stiffness/ankylosis
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • anaemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • early death/lethality

HPO human phenotypes related to Wolfram Syndrome:

(show all 67)
id Description Frequency HPO Source Accession
1 hearing impairment hallmark (90%) HP:0000365
2 optic atrophy hallmark (90%) HP:0000648
3 diabetes mellitus hallmark (90%) HP:0000819
4 diabetes insipidus hallmark (90%) HP:0000873
5 recurrent urinary tract infections typical (50%) HP:0000010
6 nephropathy typical (50%) HP:0000112
7 visual impairment typical (50%) HP:0000505
8 nystagmus typical (50%) HP:0000639
9 seizures typical (50%) HP:0001250
10 hypoglycemia typical (50%) HP:0001943
11 neurological speech impairment typical (50%) HP:0002167
12 incoordination typical (50%) HP:0002311
13 abnormality of the genital system occasional (7.5%) HP:0000078
14 renal insufficiency occasional (7.5%) HP:0000083
15 retinopathy occasional (7.5%) HP:0000488
16 glaucoma occasional (7.5%) HP:0000501
17 cataract occasional (7.5%) HP:0000518
18 ophthalmoparesis occasional (7.5%) HP:0000597
19 hallucinations occasional (7.5%) HP:0000738
20 hypothyroidism occasional (7.5%) HP:0000821
21 limitation of joint mobility occasional (7.5%) HP:0001376
22 congestive heart failure occasional (7.5%) HP:0001635
23 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
24 anemia occasional (7.5%) HP:0001903
25 constipation occasional (7.5%) HP:0002019
26 malabsorption occasional (7.5%) HP:0002024
27 respiratory insufficiency occasional (7.5%) HP:0002093
28 apnea occasional (7.5%) HP:0002104
29 cerebral cortical atrophy occasional (7.5%) HP:0002120
30 recurrent respiratory infections occasional (7.5%) HP:0002205
31 gastrointestinal hemorrhage occasional (7.5%) HP:0002239
32 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
33 sleep disturbance occasional (7.5%) HP:0002360
34 developmental regression occasional (7.5%) HP:0002376
35 myopathy occasional (7.5%) HP:0003198
36 abnormality of the gastric mucosa occasional (7.5%) HP:0004295
37 reduced consciousness/confusion occasional (7.5%) HP:0004372
38 feeding difficulties in infancy occasional (7.5%) HP:0008872
39 peripheral neuropathy occasional (7.5%) HP:0009830
40 cognitive impairment occasional (7.5%) HP:0100543
41 limited mobility of proximal interphalangeal joint HP:0006217
42 stroke-like episodes HP:0002401
43 cerebral atrophy HP:0002059
44 dysphagia HP:0002015
45 sideroblastic anemia HP:0001924
46 megaloblastic anemia HP:0001889
47 thrombocytopenia HP:0001873
48 cardiomyopathy HP:0001638
49 growth delay HP:0001510
50 tremor HP:0001337
51 dysarthria HP:0001260
52 ataxia HP:0001251
53 seizures HP:0001250
54 intellectual disability HP:0001249
55 diabetes insipidus HP:0000873
56 hypothyroidism HP:0000821
57 diabetes mellitus HP:0000819
58 behavioral abnormality HP:0000708
59 optic atrophy HP:0000648
60 nystagmus HP:0000639
61 pigmentary retinopathy HP:0000580
62 ptosis HP:0000508
63 sensorineural hearing impairment HP:0000407
64 hydronephrosis HP:0000126
65 hydroureter HP:0000072
66 testicular atrophy HP:0000029
67 neurogenic bladder HP:0000011

UMLS symptoms related to Wolfram Syndrome:


tremor, seizures, ataxia

Drugs & Therapeutics for Wolfram Syndrome

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DaunorubicinapprovedPhase 225220830-81-330323
Synonyms:
(+)-Daunomycin
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-(methyloxy)-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(1S,3S)-3-acetyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-a-L-lyxo-hexopyranoside
(7S,9R)-9-Acetyl-7-[(2S,4S,5S,6S)-4-amino-5-hydroxy-6-methyl-oxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(7S,9S)-9-acetyl-7-[(2R,4S,5S,6S)-4-amino-5-hydroxy-6-methyloxan-2-yl]oxy-6,9,11-trihydroxy-4-methoxy-8,10-dihydro-7H-tetracene-5,12-dione
(8S-cis)-8-Acetyl-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyrannosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-1-methoxy-5,12-napthacenedione
(8S-cis)-8-Acetyl-10-[(3-amino-2,3,6-trideoxy-.alpha.-L-lyxo-hexopyranosyl)oxy]-7,8,9,10-tetrahydro--6,8,11-trihydroxy-1-methoxy-5,12-naphthacenedione
11006-54-5
11048-29-6
1407-15-4
149541-57-1
20830-81-3
23942-76-9
27576-81-4
28020-80-6
AB00514669
AC1L1JCP
AC1Q29OI
AI3-52942
Acetyladriamycin
Anthracyline
Antibiotics From Streptomyces Coeruleorubidus
Antibiotics from Streptomyces coeruleorubidus
BPBio1_000389
BRD-K43389675-003-02-7
BRN 1445583
BSPBio_000353
C01907
CCRIS 914
CHEBI:41977
CHEMBL178
CID30323
Cerubidin
Cerubidine
D07776
DAUNORUBICIN HCL
DB00694
DM1
Daunamycin
Daunarubicinum
Dauno-Rubidomycine
DaunoXome
DaunoXome (TN)
Daunoblastin
Daunoblastine
Daunomycin
 
Daunomycin Hydrochloride
Daunomycin, Hydrochloride
Daunorrubicina
Daunorubicin
Daunorubicin (INN)
Daunorubicin (liposomal)
Daunorubicin Hcl
Daunorubicin Hydrochloride
Daunorubicin [INN:BAN]
Daunorubicin, Hydrochloride
Daunorubicina
Daunorubicine
Daunorubicinum
Daunorubicinum [INN-Latin]
Daunoxome
EINECS 244-069-7
FI 6339
FI6339
HMS2089H04
HMS2091K06
HSDB 5095
LMPK13050002
LS-187381
LS-997
Leukaemomycin C
MolPort-002-533-961
NCGC00024246-05
NCGC00024246-06
NCGC00025173-01
NCI-C04693
NChemBio.2007.10-comp14
NSC 83142
NSC-82151
Ondena
Prestwick3_000487
RCRA waste no. U059
RP 13057
Rcra Waste No. U059
Rp 13057 Hydrochloride
Rubidomycin
Rubidomycin Hydrochloride
Rubomycin
Rubomycin C
Tocris-1467
UNII-ZS7284E0ZP
VS-103
daunorubicin
nchembio723-comp2
2
Cytarabineapproved, investigationalPhase 21035147-94-46253
Synonyms:
(beta-D-Arabinofuranosyl)cytosine
(beta-D-arabinofuranosyl)cytosine
1-.beta.-D-arabinofuranosyl-cytosine
1-Arabinofuranosylcytosine
1-beta -D-Arabinofaranosylcytosine
1-beta -D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta -D-Arabinofuranosylcytosine
1-beta-D-Arabinofaranosylcytosine
1-beta-D-Arabinofuranosyl-4-amino-2(1H)pyrimidinone
1-beta-D-Arabinofuranosyl-Cytosine
1-beta-D-Arabinofuranosylcytosine
1-beta-D-Arabinofuranosylcytosine, Cytosine Arabinoside
1-beta-D-Arabinosyl-Cytosine
1-beta-D-Arabinosylcytosine
147-94-4
1beta -Arabinofuranasylcytosine
1beta -D-Arabinofuranosylcytosine
1beta -D-Arabinosylcytosine
1beta-Arabinofuranasylcytosine
1beta-D-Arabinofuranosylcytosine
1beta-D-Arabinosylcytosine
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl- [CAS]
2(1H)-Pyrimidinone, 4-amino-1- -D-arabinofuranosyl
30399_FLUKA
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidin [Czech]
4-Amino-1-arabinofuranosyl-2-oxo-1,2-dihydropyrimidine
4-Amino-1-b-D-arabinofuranosyl-2-(1H)-pyrimidinone
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinon [Czech]
4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone
4-amino-1-[(2R,3S,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one
4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one
69-74-9 (hydrochloride)
AC-1075
AC1L1M4F
AC1Q52OJ
AI3-52329
AR3
Alexan
Ara-C
Ara-C, Cytosine Arabinoside, Cytosar-U, Cytarabine
Ara-Cytidine
AraC
Arabinocytidine
Arabinofuranosyl Cytidine
Arabinofuranosylcytosine
Arabinosyl Cytosine
Arabinosylcytosine
Arabitin
Aracytidine
Aracytin
Aracytine
Arafcyt
BIDD:GT0371
BIDD:PXR0139
BTB15125
Beta-cytosine arabinoside
C02961
C1768_SIGMA
C2035
C9H13N3O5
CCRIS 913
CHEBI:28680
CHEMBL803
CHX 3311
CID6253
CPD000449317
CYTARABINE (SEE ALSO CYTARABINE HYDROCHLORIDE 69-74-9)
Citarabina
Citarabina [INN-Spanish]
Cytarabin
Cytarabina
Cytarabine
Cytarabine (JP15/USP/INN)
 
Cytarabine [USAN:INN:BAN:JAN]
Cytarabine liposome injection
Cytarabinoside
Cytarabinum
Cytarabinum [INN-Latin]
Cytarbel
Cytonal
Cytosar
Cytosar-U
Cytosine 1-beta-D-arabinofuranoside
Cytosine arabinofuranoside
Cytosine arabinose
Cytosine arabinoside
Cytosine arabinoside (VAN)
Cytosine beta-D-arabinofuranoside
Cytosine beta-D-arabinofuranoside hydrochloride
Cytosine beta-D-arabinoside
Cytosine, beta -D-arabinoside
Cytosine, beta-D-arabinoside
Cytosine-1-beta-D-arabinofuranoside
Cytosine-1-beta-D-arabinofuranoside hydrochloride
Cytosine-beta -D-arabinofuranoside
Cytosine-beta -arabinoside
Cytosine-beta-D-arabinofuranoside
Cytosine-beta-arabinoside
Cytosinearabinoside
D00168
DB00987
DepoCyte
Depocyt
Depocyt (TN)
Depocyt (liposomal)
Depocyte
EINECS 205-705-9
Erpalfa
FT-0082880
HMS2051K19
HMS2090A18
HSDB 3049
Intrathecal (injected into the spinal fluid) DepoCyt
Intrathecal cytarabine (also known as ara-C)
Iretin
LS-860
Lopac0_000316
MLS000758310
MLS001066340
MolPort-001-792-509
NCGC00093356-03
NCGC00093356-04
NCGC00093356-05
NCI-C04728
NSC 287459
NSC287459
S1648_Selleck
SAM001247012
SMR000449317
SR-01000075773-3
Spongocytidine
TL8001048
Tarabine
U 19920A
U-19,920
U-19920
UNII-04079A1RDZ
Udicil
ZINC03795098
beta -D-arabinosylcytosine
beta -arabinosylcytosine
beta -cytosine arabinoside
beta-Ara C
beta-Ara c
beta-Arabinosylcytosine
beta-Cytosine arabinoside
beta-D-Arabinosylcytosine
cytarabine
cytarabine liposome injection
cytosine-β-D-arabinofuranoside
3
Mitoxantroneapproved, investigationalPhase 225765271-80-94212
Synonyms:
1,4-Bis(2-(2-hydroxyethylamino)ethyl)amino)-5,8-dihydroxyanthraquinone
1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)-9,10-ANTHRACENEDIONE
1,4-DIHYDROXY-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(2-((2-hydroxyethyl)amino)ethylamino)-9,10-anthracenedione
1,4-Dihydroxy-5,8-bis(5-hydroxy-3-azapentylamino)anthrachinon
1,4-Dihydroxy-5,8-bis[2-(2-hydroxyethylamino)ethylamino]anthracene-9,10-dione
1,4-Dihydroxy-5,8-bis[[2-[(2-hydroxyethyl)amino]ethyl]amino]-9,10-anthracenedione
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthra-9,10-quinone
1,4-dihydroxy-5,8-bis({2-[(2-hydroxyethyl)amino]ethyl}amino)anthracene-9,10-dione
137635-96-2
2fum
5,8-Bis((2-((2-hydroxyethyl)amino)ethyl)amino)-1,4-dihydroxyanthraquinone
65271-80-9
70476-82-3
70476-82-3 (hydrochloride)
70711-41-0
70711-41-0 (acetate)
70945-62-9
9,10-Anthracenedione, 1,4-dihydroxy-5,8-bis((2-((2-hydroxyethyl)amino)ethyl)amino)- (9CI)
AB00053716
AC1L1HNY
AN-584/42007670
BIDD:PXR0181
BPBio1_000627
BRD-K21680192-300-05-2
BRD-K21680192-300-07-8
BRN 2795126
BSPBio_000569
BSPBio_003160
C11195
C22H28N4O6
CAS-70476-82-3
CCRIS 7604
CHEBI:50729
CHEMBL58
CID4212
D08224
DB01204
DHAD
DHAQ
DHAQ (*Diacetate salt*)
DHAQ HCl
Dihydroxyanthraquinone
DivK1c_000516
HMS2090D05
IDI1_000516
KBio1_000516
KBio2_002135
KBio2_004703
KBio2_007271
KBio3_002660
KBioGR_001531
KBioSS_002135
LS-20638
Liposome Encapsulated Mitoxantrone (LEM)
Lopac-M-6545
Lopac0_000779
MITOXANTRONE, 1,4-DIHYDROXY-5,8-BIS({2-[(2-HYDROXYETHYL)AMINO]ETHYL}AMINO)ANTHRA-9,10-QUINONE
MITOXANTRONE, Mitoxantrone Hydrochloride, Mitoxantrone dihydrochloride, MITOXANTHRONE HYDROCHLORIDE
MIX
MLS002703044
 
Misostol
Misostol (TN)
Mitox
Mitoxanthrone
Mitoxantron
Mitoxantrona
Mitoxantrona [INN-Spanish]
Mitoxantrone
Mitoxantrone (INN)
Mitoxantrone (free base)
Mitoxantrone 2HCl
Mitoxantrone HCl
Mitoxantrone Hydrochloride
Mitoxantrone [INN]
Mitoxantrone dihydrochloride
Mitoxantrone hydrochloride
Mitoxantronum
Mitoxantronum [INN-Latin]
Mitozantrone
Mitozantrone hydrochloride
MolPort-003-849-239
NCGC00015693-01
NCGC00015693-02
NCGC00015693-04
NCGC00162251-01
NCI60_002276
NCI60_002535
NChemBio.2007.10-comp17
NINDS_000516
NSC 279836
NSC-279836
NSC-287836
NSC-299195
NSC-301739
NSC-301739D
NSC279836
NSC299195
NSC301739
Neuro_000153
Novantron
Novantrone
Novantrone(R) (mitoxantrone for injection concentrate)
Prestwick0_000385
Prestwick1_000385
Prestwick2_000385
Prestwick3_000385
S2485_Selleck
SMP2_000179
SMR001549953
SPBio_000756
SPBio_002490
SR-01000076001
SR-01000076001-7
STK631833
Spectrum2_000908
Spectrum3_001590
Spectrum4_000866
Spectrum5_001205
Spectrum_001655
UNII-BZ114NVM5P
VU0244399-2
mitoxantrone
4Immunosuppressive AgentsPhase 210422
5AnalgesicsPhase 29358
6Anti-Infective AgentsPhase 217220
7Topoisomerase InhibitorsPhase 24081
8Immunologic FactorsPhase 218483
9Peripheral Nervous System AgentsPhase 218510
10AntimetabolitesPhase 29454
11Antimetabolites, AntineoplasticPhase 25770
12Antiviral AgentsPhase 28071
13Anti-Bacterial AgentsPhase 29140
14Antibiotics, AntitubercularPhase 25971
15
Exenatideapproved, investigational269141758-74-915991534
Synonyms:
141732-76-5
141758-74-9
286014-72-0
335149-21-8
AC 2993
AC 2993 LAR
AC 2993A
AC-2993
AC002993
AC2993
AC2993a
Bydureon
Byetta
 
C074031
CHEBI:490990
CHEMBL414357
Ex4 peptide
Exenatide
Exenatide Synthetic
Exenatide synthetic
Exendin 4
Exendin 4 (Heloderma suspectum)
Exendin-4
Extendin-4
LY2148568
Synthetic exendin-4
UNII-9P1872D4OL
16Insulin, Globin Zinc4278
17insulin4278
18Hypoglycemic Agents4503
19Incretins1326
20Hormones, Hormone Substitutes, and Hormone Antagonists9988
21Hormones11748
22Glucagon-Like Peptide 1620
23Hormone Antagonists10002

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Intensive Chemotherapy With or Without Volasertib in Patients With Newly Diagnosed High-Risk Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)RecruitingNCT02198482Phase 2
2Tracking Neurodegeneration in Early Wolfram SyndromeRecruitingNCT02455414
3European Home Mechanical Ventilation RegistryRecruitingNCT02315339
4GLP Analogs for Diabetes in Wolfram Syndrome PatientsNot yet recruitingNCT01302327
5Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter SyndromeWithdrawnNCT00347464

Search NIH Clinical Center for Wolfram Syndrome


Cochrane evidence based reviews: wolfram syndrome

Genetic Tests for Wolfram Syndrome

About this section

Genetic tests related to Wolfram Syndrome:

id Genetic test Affiliating Genes
1 Wolfram Syndrome22 WFS1

Anatomical Context for Wolfram Syndrome

About this section

MalaCards organs/tissues related to Wolfram Syndrome:

33
Pituitary, Eye, Brain, Heart, Lung, Prostate, Myeloid

Animal Models for Wolfram Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Wolfram Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.2BAMBI, CISD2, DIAPH1, EFEMP1, HSPA5, TH
2MP:00028738.2AVP, BAMBI, DRD5, EFEMP1, HSPA5, SYVN1
3MP:00053798.1ATF6, CISD2, COMT, DRD5, EFEMP1, TH
4MP:00053678.0AVP, CISD2, COMT, DRD5, EFEMP1, HSPA5
5MP:00053767.2ATF6, AVP, CISD2, COMT, DIAPH1, EFEMP1

Publications for Wolfram Syndrome

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Articles related to Wolfram Syndrome:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
RETRACTION: Wolfram syndrome 1 and adenylyl cyclase 8 interact at the plasma membrane to regulate insulin production and secretion. (25679031)
2015
2
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2. (25056293)
2014
3
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome. (25542043)
2014
4
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
5
Audiologic and vestibular findings in Wolfram syndrome. (23698626)
2013
6
Vacuolar-type H+-ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 (WFS1) protein, which regulates its expression and stability. (23035048)
2013
7
Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion. (23373429)
2013
8
Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms. (23845777)
2013
9
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro). (21968327)
2012
10
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. (21623591)
2012
11
Wolfram syndrome: new mutations, different phenotype. (22238590)
2012
12
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype. (22771918)
2012
13
Wolfram Syndrome: a rare optic neuropathy in youth with type 1 diabetes. (21892113)
2011
14
Neurologic features and genotype-phenotype correlation in Wolfram syndrome. (21446023)
2011
15
Neuropathy in Wolfram syndrome. (20888932)
2011
16
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy. (21723259)
2011
17
Wolfram syndrome 1 gene (WFS1) product localizes to secretory granules and determines granule acidification in pancreatic beta-cells. (21199859)
2011
18
A case of wolfram syndrome. (22737327)
2010
19
Expression and localization of Wolfram syndrome 1 gene in the developing rat pancreas. (19916172)
2009
20
Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome. (19042979)
2009
21
Wolfram syndrome 1 (Wfs1) gene expression in the normal mouse visual system. (18613120)
2008
22
Psychiatric symptoms in a patient with Wolfram syndrome caused by a combination of thalamic deficit and endocrinological pathologies. (19090413)
2008
23
Wolfram syndrome. Clinical and genetic study in two families]. (18194629)
2008
24
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. (17846994)
2007
25
Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): an age- and duration-matched comparison with common type 1 diabetes. (17536072)
2007
26
Wolfram syndrome: case report and review of the literature. (17914206)
2007
27
Bowel dysfunction in Wolfram syndrome. (16443921)
2006
28
Atrioventricular nodal reentrant tachycardia in two siblings with Wolfram syndrome. (16948749)
2006
29
Imaging characteristics of familial Wolfram syndrome. (15765170)
2005
30
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. (16151413)
2005
31
Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. (16005363)
2005
32
Solitary pancreas transplantation in Wolfram syndrome. (14657707)
2003
33
Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. (11317648)
2001
34
Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. (11260218)
2001
35
Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. (10893488)
2000
36
Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. (10480791)
1999
37
Role of early fundoscopy for diagnosis of Wolfram syndrome in type 1 diabetic patients. (10480790)
1999
38
Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. (9491819)
1998
39
Psychiatric disorders in Wolfram syndrome heterozygotes. (9491807)
1998
40
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. (8651280)
1996
41
Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). (8071960)
1994
42
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. (7987399)
1994
43
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). (8383698)
1993
44
Successful pregnancy in two sisters with Wolfram syndrome. (8444596)
1993
45
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). (7609443)
1993
46
A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure. (2221817)
1990
47
Primary hypogonadism in two siblings with Wolfram syndrome. (3677989)
1987
48
Optic atrophy in Wolfram syndrome. (3561950)
1986
49
Wolfram syndrome and HLA. (7366689)
1980
50

Variations for Wolfram Syndrome

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

67 (show all 22)
id Symbol AA change Variation ID SNP ID
1WFS1p.Pro504LeuVAR_005842rs28937892
2WFS1p.Gly695ValVAR_005844rs28937891
3WFS1p.Pro724LeuVAR_005845rs28937890
4WFS1p.Glu169LysVAR_009109
5WFS1p.Pro292SerVAR_009110
6WFS1p.Ile296SerVAR_009111
7WFS1p.Gly437ArgVAR_009114
8WFS1p.Cys690ArgVAR_009116
9WFS1p.Trp700CysVAR_009117
10WFS1p.Gly736SerVAR_009118
11WFS1p.Pro885LeuVAR_009119
12WFS1p.Ala58ValVAR_011305
13WFS1p.Ala126ThrVAR_011306
14WFS1p.Ser443IleVAR_011308
15WFS1p.Gly780ArgVAR_011313
16WFS1p.Arg818CysVAR_011314rs35932623
17WFS1p.Ala133ThrVAR_014034
18WFS1p.Tyr669CysVAR_014038
19WFS1p.Tyr110AsnVAR_029499
20WFS1p.Arg457SerVAR_029502
21WFS1p.Arg629TrpVAR_029505rs71530910
22WFS1p.Arg558CysVAR_068343

Clinvar genetic disease variations for Wolfram Syndrome:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1WFS1NM_006005.3(WFS1): c.124C> T (p.Arg42Ter)single nucleotide variantPathogenicrs71530923GRCh37Chr 4, 6279306: 6279306
2WFS1NM_006005.3(WFS1): c.1672C> T (p.Arg558Cys)single nucleotide variantLikely pathogenicrs199946797GRCh37Chr 4, 6303194: 6303194
3WFS1NM_006005.3(WFS1): c.2263T> C (p.Cys755Arg)single nucleotide variantLikely pathogenicrs797045075GRCh37Chr 4, 6303785: 6303785
4WFS1NM_006005.3(WFS1): c.2648_2651delTCTT (p.Phe883Serfs)deletionPathogenicrs797045076GRCh37Chr 4, 6304169: 6304173
5WFS1NM_006005.3(WFS1): c.2119G> T (p.Val707Phe)single nucleotide variantPathogenicrs71524377GRCh37Chr 4, 6303641: 6303641
6WFS1WFS1, 8-BP DEL, NT2106deletionPathogenic
7WFS1NM_006005.3(WFS1): c.2051C> T (p.Ala684Val)single nucleotide variantPathogenicrs387906930GRCh37Chr 4, 6303573: 6303573
8WFS1WFS1, 3-BP DEL, VAL415DELdeletionPathogenic
9WFS1WFS1, 4-BP DEL, 1387CTCTdeletionPathogenic
10WFS1WFS1, 2-BP DEL, 2812TCdeletionPathogenic
11WFS1WFS1, 15-BP DEL, NT1685deletionPathogenic
12WFS1NM_006005.3(WFS1): c.2171C> T (p.Pro724Leu)single nucleotide variantPathogenicrs28937890GRCh37Chr 4, 6303693: 6303693
13WFS1NM_006005.3(WFS1): c.2084G> T (p.Gly695Val)single nucleotide variantPathogenicrs28937891GRCh37Chr 4, 6303606: 6303606
14WFS1NM_006005.3(WFS1): c.1944G> A (p.Trp648Ter)single nucleotide variantPathogenicrs104893879GRCh37Chr 4, 6303466: 6303466
15WFS1NM_006005.3(WFS1): c.1511C> T (p.Pro504Leu)single nucleotide variantPathogenicrs28937892GRCh37Chr 4, 6303033: 6303033
16WFS1WFS1, 7-BP INS, NT1610insertionPathogenic
17WFS1WFS1, 9-BP DEL, NT1380deletionPathogenic
18WFS1WFS1, 460, G-A, +1single nucleotide variantPathogenic
19WFS1NM_006005.3(WFS1): c.676C> T (p.Gln226Ter)single nucleotide variantPathogenicrs104893880GRCh37Chr 4, 6293688: 6293688
20WFS1NM_006005.3(WFS1): c.2455C> T (p.Gln819Ter)single nucleotide variantPathogenicrs104893881GRCh37Chr 4, 6303977: 6303977
21WFS1WFS1, 4-BP DEL, NT2648deletionPathogenic
22WFS1NM_006005.3(WFS1): c.409_424dup16 (p.Val142Glyfs)duplicationPathogenicrs587776598GRCh37Chr 4, 6290807: 6290822
23WFS1NM_006005.3(WFS1): c.2146G> A (p.Ala716Thr)single nucleotide variantLikely pathogenic, Pathogenicrs28937893GRCh37Chr 4, 6303668: 6303668
24WFS1WFS1, 16-BP DEL, NT1362deletionPathogenic

Expression for genes affiliated with Wolfram Syndrome

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Search GEO for disease gene expression data for Wolfram Syndrome.

Pathways for genes affiliated with Wolfram Syndrome

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GO Terms for genes affiliated with Wolfram Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:00301769.4ATF6, HSPA5, SYVN1, WFS1
2dendriteGO:00304258.9AVP, COMT, TH, WFS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to manganese ionGO:007128710.3HSPA5, TH
2renal water homeostasisGO:000309110.2AVP, WFS1
3positive regulation of protein ubiquitinationGO:003139810.2HSPA5, WFS1
4mating behaviorGO:000761710.1DRD5, TH
5neurotransmitter biosynthetic processGO:00421369.8COMT, TH
6learningGO:00076129.5COMT, DRD5
7synaptic transmission, dopaminergicGO:00019639.4DRD5, TH
8endoplasmic reticulum unfolded protein responseGO:00309689.3ATF6, SYVN1, WFS1

Sources for Wolfram Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet