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Wolfram syndrome 2(WFS2)

MedGen UID:
347604
Concept ID:
C1858028
Disease or Syndrome
Synonym: WFS2
 
Gene (location): CISD2 (4q24)
 
Monarch Initiative: MONDO:0011502
OMIM®: 604928

Definition

Wolfram syndrome-2 (WFS2) is an autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding (summary by Mozzillo et al., 2014). For a discussion of genetic heterogeneity of Wolfram syndrome, see WFS1 (222300). [from OMIM]

Additional description

From MedlinePlus Genetics
There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. In addition to the usual features of Wolfram syndrome type 1 (described above), individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. The tendency to bleed excessively combined with the ulcers typically leads to abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome type 2 do not develop diabetes insipidus.

About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell (anosmia), loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior.

In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body's water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs with hypogonadism affects growth and sexual development. About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. Urinary tract problems include obstruction of the ducts between the kidneys and bladder (ureters), a large bladder that cannot empty normally (high-capacity atonal bladder), disrupted urination (bladder sphincter dyssynergia), and difficulty controlling the flow of urine (incontinence).

Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side (peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin.

Historically, Wolfram syndrome was fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems. However, with better diagnosis and management, life expectancy has risen.

Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar (glucose) levels resulting from a shortage of the hormone insulin (a condition called diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (a condition called optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in excess urine production (a condition called 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.  https://medlineplus.gov/genetics/condition/wolfram-syndrome

Clinical features

From HPO
Neurogenic bladder
MedGen UID:
595
Concept ID:
C0005697
Disease or Syndrome
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Oligomenorrhea
MedGen UID:
18159
Concept ID:
C0028949
Pathologic Function
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Primary amenorrhea
MedGen UID:
115918
Concept ID:
C0232939
Disease or Syndrome
Abnormally late or absent menarche in a female with normal secondary sexual characteristics.
Peptic ulcer
MedGen UID:
45384
Concept ID:
C0030920
Disease or Syndrome
The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
Concept ID:
C4024703
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Decreased circulating antibody concentration
MedGen UID:
892481
Concept ID:
C4048270
Finding
An abnormally decreased level of immunoglobulin in blood.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Diabetes insipidus
MedGen UID:
8349
Concept ID:
C0011848
Disease or Syndrome
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Optic neuropathy
MedGen UID:
854546
Concept ID:
C3887709
Disease or Syndrome
Disorder of the optic nerve.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R
Eur J Hum Genet 2016 Nov;24(11) Epub 2016 May 25 doi: 10.1038/ejhg.2016.49. PMID: 27222289Free PMC Article

Recent clinical studies

Etiology

Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R
Eur J Hum Genet 2016 Nov;24(11) Epub 2016 May 25 doi: 10.1038/ejhg.2016.49. PMID: 27222289Free PMC Article
Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF
Ann N Y Acad Sci 2010 Jul;1201:58-64. doi: 10.1111/j.1749-6632.2010.05619.x. PMID: 20649540
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R
Am J Hum Genet 2007 Oct;81(4):673-83. Epub 2007 Aug 20 doi: 10.1086/520961. PMID: 17846994Free PMC Article

Diagnosis

Rigoli L, Bramanti P, Di Bella C, De Luca F
Pediatr Res 2018 May;83(5):921-929. Epub 2018 Feb 28 doi: 10.1038/pr.2018.17. PMID: 29774890
Rouzier C, Moore D, Delorme C, Lacas-Gervais S, Ait-El-Mkadem S, Fragaki K, Burté F, Serre V, Bannwarth S, Chaussenot A, Catala M, Yu-Wai-Man P, Paquis-Flucklinger V
Hum Mol Genet 2017 May 1;26(9):1599-1611. doi: 10.1093/hmg/ddx060. PMID: 28335035Free PMC Article
Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R
Eur J Hum Genet 2016 Nov;24(11) Epub 2016 May 25 doi: 10.1038/ejhg.2016.49. PMID: 27222289Free PMC Article
Rigoli L, Di Bella C
Curr Opin Pediatr 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf. PMID: 22790102
Conlan AR, Axelrod HL, Cohen AE, Abresch EC, Zuris J, Yee D, Nechushtai R, Jennings PA, Paddock ML
J Mol Biol 2009 Sep 11;392(1):143-53. Epub 2009 Jul 4 doi: 10.1016/j.jmb.2009.06.079. PMID: 19580816Free PMC Article

Therapy

Danielpur L, Sohn YS, Karmi O, Fogel C, Zinger A, Abu-Libdeh A, Israeli T, Riahi Y, Pappo O, Birk R, Zangen DH, Mittler R, Cabantchik ZI, Cerasi E, Nechushtai R, Leibowitz G
J Clin Endocrinol Metab 2016 Oct;101(10):3592-3599. Epub 2016 Jul 26 doi: 10.1210/jc.2016-2240. PMID: 27459537
Tamir S, Zuris JA, Agranat L, Lipper CH, Conlan AR, Michaeli D, Harir Y, Paddock ML, Mittler R, Cabantchik ZI, Jennings PA, Nechushtai R
PLoS One 2013;8(5):e61202. Epub 2013 May 22 doi: 10.1371/journal.pone.0061202. PMID: 23717386Free PMC Article

Prognosis

Zuo K, Capelli R, Rossetti G, Nechushtai R, Carloni P
J Chem Inf Model 2023 Jan 23;63(2):643-654. Epub 2023 Jan 9 doi: 10.1021/acs.jcim.2c01280. PMID: 36623826Free PMC Article
Rigoli L, Bramanti P, Di Bella C, De Luca F
Pediatr Res 2018 May;83(5):921-929. Epub 2018 Feb 28 doi: 10.1038/pr.2018.17. PMID: 29774890
Cattaneo M, La Sala L, Rondinelli M, Errichiello E, Zuffardi O, Puca AA, Genovese S, Ceriello A
BMC Med Genet 2017 Dec 13;18(1):147. doi: 10.1186/s12881-017-0508-2. PMID: 29237418Free PMC Article
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R
Am J Hum Genet 2007 Oct;81(4):673-83. Epub 2007 Aug 20 doi: 10.1086/520961. PMID: 17846994Free PMC Article

Clinical prediction guides

Zuo K, Capelli R, Rossetti G, Nechushtai R, Carloni P
J Chem Inf Model 2023 Jan 23;63(2):643-654. Epub 2023 Jan 9 doi: 10.1021/acs.jcim.2c01280. PMID: 36623826Free PMC Article
Cattaneo M, La Sala L, Rondinelli M, Errichiello E, Zuffardi O, Puca AA, Genovese S, Ceriello A
BMC Med Genet 2017 Dec 13;18(1):147. doi: 10.1186/s12881-017-0508-2. PMID: 29237418Free PMC Article
Lu S, Kanekura K, Hara T, Mahadevan J, Spears LD, Oslowski CM, Martinez R, Yamazaki-Inoue M, Toyoda M, Neilson A, Blanner P, Brown CM, Semenkovich CF, Marshall BA, Hershey T, Umezawa A, Greer PA, Urano F
Proc Natl Acad Sci U S A 2014 Dec 9;111(49):E5292-301. Epub 2014 Nov 24 doi: 10.1073/pnas.1421055111. PMID: 25422446Free PMC Article
Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R
Am J Hum Genet 2007 Oct;81(4):673-83. Epub 2007 Aug 20 doi: 10.1086/520961. PMID: 17846994Free PMC Article

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