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Arts syndrome(ARTS)

MedGen UID:
163205
Concept ID:
C0796028
Disease or Syndrome
Synonyms: ARTS; ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; X-linked fatal ataxia with deafness and loss of vision
SNOMED CT: Lethal ataxia-deafness-optic atrophy (702441001); Arts syndrome (702441001); Fatal X-linked ataxia with deafness and loss of vision (702441001)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): PRPS1 (Xq22.3)
 
Monarch Initiative: MONDO:0010533
OMIM®: 301835
Orphanet: ORPHA1187

Disease characteristics

Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affected males, the PRS deficiency phenotypic spectrum ranges from severe congenital profound sensorineural hearing loss, intellectual disability, delayed motor development, and progressive ophthalmologic involvement (retinal dystrophy and optic atrophy) to normal cognitive abilities and relatively later-onset, somewhat milder manifestations, such as mild sensorineural hearing loss, peripheral neuropathy, and gait ataxia. Heterozygous females can show isolated and/or milder manifestations in the PRS deficiency spectrum. To date, 40 families with PRS deficiency have been reported. [from GeneReviews]
Authors:
Arjan PM de Brouwer  |  John Christodoulou   view full author information

Additional descriptions

From OMIM
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death.  http://www.omim.org/entry/301835
From MedlinePlus Genetics
Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.

Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).

Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.

In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.  https://medlineplus.gov/genetics/condition/arts-syndrome

Clinical features

From HPO
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.
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).
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Tetraplegia
MedGen UID:
19617
Concept ID:
C0034372
Disease or Syndrome
Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
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.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
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.
Spinal cord posterior columns myelin loss
MedGen UID:
870266
Concept ID:
C4024706
Finding
Progressive muscle weakness
MedGen UID:
68704
Concept ID:
C0240421
Finding
Neonatal hypotonia
MedGen UID:
412209
Concept ID:
C2267233
Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.
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.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Arts syndrome in Orphanet.

Professional guidelines

PubMed

Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I
Pediatr Res 2015 Jul;78(1):97-102. Epub 2015 Mar 18 doi: 10.1038/pr.2015.56. PMID: 25785835
Chen BC, Balasubramaniam S, McGown IN, O'Neill JP, Chng GS, Keng WT, Ngu LH, Duley JA
Brain Dev 2014 Aug;36(7):593-600. Epub 2013 Sep 18 doi: 10.1016/j.braindev.2013.08.013. PMID: 24055166
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
Am J Hum Genet 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. PMID: 20380929Free PMC Article

Recent clinical studies

Etiology

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
Hum Mutat 2018 Jan;39(1):80-91. Epub 2017 Oct 17 doi: 10.1002/humu.23349. PMID: 28967191

Diagnosis

Ugbogu EA, Schweizer LM, Schweizer M
Cells 2022 Jun 13;11(12) doi: 10.3390/cells11121909. PMID: 35741038Free PMC Article
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S
Eur J Med Genet 2020 Nov;63(11):104033. Epub 2020 Aug 8 doi: 10.1016/j.ejmg.2020.104033. PMID: 32781272
Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H
Metab Brain Dis 2018 Apr;33(2):589-600. Epub 2017 Oct 18 doi: 10.1007/s11011-017-0121-2. PMID: 29047041
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C
Orphanet J Rare Dis 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. PMID: 25491489Free PMC Article
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D
Int J Audiol 2013 Jan;52(1):23-8. Epub 2012 Nov 28 doi: 10.3109/14992027.2012.736032. PMID: 23190330Free PMC Article

Therapy

Chen BC, Balasubramaniam S, McGown IN, O'Neill JP, Chng GS, Keng WT, Ngu LH, Duley JA
Brain Dev 2014 Aug;36(7):593-600. Epub 2013 Sep 18 doi: 10.1016/j.braindev.2013.08.013. PMID: 24055166
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D
Int J Audiol 2013 Jan;52(1):23-8. Epub 2012 Nov 28 doi: 10.3109/14992027.2012.736032. PMID: 23190330Free PMC Article
de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H
Am J Hum Genet 2007 Sep;81(3):507-18. Epub 2007 Aug 3 doi: 10.1086/520706. PMID: 17701896Free PMC Article

Prognosis

Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H
Metab Brain Dis 2018 Apr;33(2):589-600. Epub 2017 Oct 18 doi: 10.1007/s11011-017-0121-2. PMID: 29047041
Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP
Am J Med Genet A 2012 Feb;158A(2):455-60. Epub 2012 Jan 13 doi: 10.1002/ajmg.a.34428. PMID: 22246954

Clinical prediction guides

Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S
Eur J Med Genet 2020 Nov;63(11):104033. Epub 2020 Aug 8 doi: 10.1016/j.ejmg.2020.104033. PMID: 32781272
Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H
Metab Brain Dis 2018 Apr;33(2):589-600. Epub 2017 Oct 18 doi: 10.1007/s11011-017-0121-2. PMID: 29047041
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
Hum Mutat 2018 Jan;39(1):80-91. Epub 2017 Oct 17 doi: 10.1002/humu.23349. PMID: 28967191
Pei W, Xu L, Varshney GK, Carrington B, Bishop K, Jones M, Huang SC, Idol J, Pretorius PR, Beirl A, Schimmenti LA, Kindt KS, Sood R, Burgess SM
Sci Rep 2016 Jul 18;6:29946. doi: 10.1038/srep29946. PMID: 27425195Free PMC Article
Chen BC, Balasubramaniam S, McGown IN, O'Neill JP, Chng GS, Keng WT, Ngu LH, Duley JA
Brain Dev 2014 Aug;36(7):593-600. Epub 2013 Sep 18 doi: 10.1016/j.braindev.2013.08.013. PMID: 24055166

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