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Wolfram syndrome 1(WFS1)

MedGen UID:
1641635
Concept ID:
C4551693
Disease or Syndrome
Synonym: WFS1
 
Gene (location): WFS1 (4p16.1)
 
Monarch Initiative: MONDO:0009101
OMIM®: 222300

Disease characteristics

Excerpted from the GeneReview: WFS1 Spectrum Disorder
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss. [from GeneReviews]
Authors:
Timothy Barrett  |  Lisbeth Tranebjærg  |  Rajat Gupta, et. al.   view full author information

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.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Testicular atrophy
MedGen UID:
57626
Concept ID:
C0156312
Disease or Syndrome
Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
Hydroureter
MedGen UID:
101073
Concept ID:
C0521620
Anatomical Abnormality
The distention of the ureter with urine.
Limited mobility of proximal interphalangeal joint
MedGen UID:
387789
Concept ID:
C1857288
Finding
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Stroke-like episode
MedGen UID:
346558
Concept ID:
C1857287
Finding
No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Atypical behavior
MedGen UID:
535345
Concept ID:
C0233514
Mental or Behavioral Dysfunction
Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Megaloblastic anemia
MedGen UID:
1527
Concept ID:
C0002888
Disease or Syndrome
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Sideroblastic anemia
MedGen UID:
8067
Concept ID:
C0002896
Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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).
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Frontino G, Di Tonno R, Stancampiano MR, Arrigoni F, Rigamonti A, Morotti E, Canarutto D, Bonfanti R, Russo G, Barera G, Piemonti L
Front Endocrinol (Lausanne) 2023;14:1155644. Epub 2023 Jun 13 doi: 10.3389/fendo.2023.1155644. PMID: 37383390Free PMC Article
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F
Pediatr Res 2020 Feb;87(3):456-462. Epub 2019 Jul 2 doi: 10.1038/s41390-019-0487-4. PMID: 31266054
Ferguson LR
OMICS 2008 Dec;12(4):237-44. doi: 10.1089/omi.2008.0044. PMID: 18710364

Recent clinical studies

Etiology

Hao H, Song L, Zhang L
PLoS Genet 2023 Jul;19(7):e1010827. Epub 2023 Jul 3 doi: 10.1371/journal.pgen.1010827. PMID: 37399203Free PMC Article
Quintas PC, Al-Salami H, Pfaff A, Li D, Koks S
Ther Deliv 2022 Sep;13(9):449-462. Epub 2023 Feb 7 doi: 10.4155/tde-2022-0036. PMID: 36748654
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C
Endokrynol Pol 2021;72(4):353-356. Epub 2021 May 19 doi: 10.5603/EP.a2021.0038. PMID: 34010437
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F
Pediatr Res 2020 Feb;87(3):456-462. Epub 2019 Jul 2 doi: 10.1038/s41390-019-0487-4. PMID: 31266054
Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM
Hum Mol Genet 2001 Oct 15;10(22):2501-8. doi: 10.1093/hmg/10.22.2501. PMID: 11709537Free PMC Article

Diagnosis

Serbis A, Rallis D, Giapros V, Galli-Tsinopoulou A, Siomou E
Int J Mol Sci 2023 Feb 12;24(4) doi: 10.3390/ijms24043690. PMID: 36835101Free PMC Article
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
Ferreras C, Gorito V, Pedro J, Ferreira S, Costa C, Santos Silva R, Castro Correia C
Endokrynol Pol 2021;72(4):353-356. Epub 2021 May 19 doi: 10.5603/EP.a2021.0038. PMID: 34010437
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
Rigoli L, Di Bella C
Curr Opin Pediatr 2012 Aug;24(4):512-7. doi: 10.1097/MOP.0b013e328354ccdf. PMID: 22790102

Prognosis

Frontino G, Di Tonno R, Stancampiano MR, Arrigoni F, Rigamonti A, Morotti E, Canarutto D, Bonfanti R, Russo G, Barera G, Piemonti L
Front Endocrinol (Lausanne) 2023;14:1155644. Epub 2023 Jun 13 doi: 10.3389/fendo.2023.1155644. PMID: 37383390Free PMC Article
Rigoli L, Caruso V, Salzano G, Lombardo F
Int J Environ Res Public Health 2022 Mar 9;19(6) doi: 10.3390/ijerph19063225. PMID: 35328914Free PMC Article
Salzano G, Rigoli L, Valenzise M, Chimenz R, Passanisi S, Lombardo F
Int J Environ Res Public Health 2022 Jan 4;19(1) doi: 10.3390/ijerph19010520. PMID: 35010780Free PMC Article
Rigoli L, Aloi C, Salina A, Di Bella C, Salzano G, Caruso R, Mazzon E, Maghnie M, Patti G, D'Annunzio G, Lombardo F
Pediatr Res 2020 Feb;87(3):456-462. Epub 2019 Jul 2 doi: 10.1038/s41390-019-0487-4. PMID: 31266054
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

Clinical prediction guides

Menon JC, Singh P, Archana A, Singh P, Mittal M, Kanga U, Mandal K, Seth A, Bhatia V, Dabadghao P, Sudhanshu S, Garg A, Vishwakarma R, Sarangi AN, Verma S, Singh SK, Bhatia E
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1072-e1082. doi: 10.1210/clinem/dgad644. PMID: 37931151
Hammad MM, Abu-Farha M, Hebbar P, Anoop E, Chandy B, Melhem M, Channanath A, Al-Mulla F, Thanaraj TA, Abubaker J
Front Endocrinol (Lausanne) 2023;14:1185956. Epub 2023 Oct 4 doi: 10.3389/fendo.2023.1185956. PMID: 37859980Free PMC Article
Frontino G, Di Tonno R, Stancampiano MR, Arrigoni F, Rigamonti A, Morotti E, Canarutto D, Bonfanti R, Russo G, Barera G, Piemonti L
Front Endocrinol (Lausanne) 2023;14:1155644. Epub 2023 Jun 13 doi: 10.3389/fendo.2023.1155644. PMID: 37383390Free PMC Article
Zhang X, Xie Y, Xu K, Chang H, Zhang X, Li Y
Invest Ophthalmol Vis Sci 2022 Sep 1;63(10):9. doi: 10.1167/iovs.63.10.9. PMID: 36098976Free PMC Article
Matsunaga K, Tanabe K, Inoue H, Okuya S, Ohta Y, Akiyama M, Taguchi A, Kora Y, Okayama N, Yamada Y, Wada Y, Amemiya S, Sugihara S, Nakao Y, Oka Y, Tanizawa Y
PLoS One 2014;9(9):e106906. Epub 2014 Sep 11 doi: 10.1371/journal.pone.0106906. PMID: 25211237Free PMC Article

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