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Mucopolysaccharidosis, MPS-II(MPS2)

MedGen UID:
7734
Concept ID:
C0026705
Disease or Syndrome
Synonyms: Attenuated MPS (subtype; formerly known as mild MPS II); Hunter syndrome; I2S deficiency; IDS deficiency; Iduronate 2-sulfatase deficiency; MPS 2; MPS II; MPS2; Mucopolysaccharidosis Type II; Severe MPS II; SIDS deficiency; Sulfoiduronate sulfatase deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, 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.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Mucopolysaccharidosis, MPS-II (70737009); Hunter's syndrome (70737009); Sulfoiduronidate sulfatase deficiency (70737009); Iduronate 2-sulfatase deficiency (70737009); Hunter syndrome (70737009); Hunter disease (70737009); MPSII - Mucopolysaccharidosis type II (70737009); Mucopolysaccharidosis type II (70737009); MPS 2 - Mucopolysaccharidosis 2 (70737009); Deficiency of iduronate-2-sulfatase (70737009); Iduronate sulfatase deficiency (70737009); Sulfo-iduronate sulfatase deficiency (70737009)
 
Gene (location): IDS (Xq28)
OMIM®: 309900

Definition

Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepato-splenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome. [from GTR]

Additional descriptions

From GeneReviews
Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder characterized by glycosaminoglycans (GAG) accumulation. The vast majority of affected individuals are male; on rare occasion heterozygous females manifest findings. Age of onset, disease severity, and rate of progression vary significantly among affected males. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include: short stature; macrocephaly with or without communicating hydrocephalus; macroglossia; hoarse voice; conductive and sensorineural hearing loss; hepato-splenomegaly; dysostosis multiplex; spinal stenosis; and carpal tunnel syndrome.  https://www.ncbi.nlm.nih.gov/books/NBK1274
From OMIM
Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).  http://www.omim.org/entry/309900
From GHR
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.  https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii

Clinical features

Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Papilledema
MedGen UID:
10565
Concept ID:
C0030353
Finding
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
Abnormality of retinal pigmentation
MedGen UID:
740307
Concept ID:
C1720508
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Reduced transparency of the stroma of cornea.
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
Heparan sulfate excretion in urine
MedGen UID:
340721
Concept ID:
C1854827
Finding
An increased concentration of heparan sulfates in the urine.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
cardiac valvular disease
MedGen UID:
5463
Concept ID:
C0018824
Disease or Syndrome
An abnormality of a cardiac valve.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Mild short stature
MedGen UID:
461427
Concept ID:
C3150077
Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency of loose or watery bowel movements.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Congenital short bowel syndrome
MedGen UID:
5864
Concept ID:
C0021847
Disease or Syndrome
Infants with congenital short bowel syndrome are born with a shortened small intestine, with a mean length of 50 cm compared to the normal length of 190 to 280 cm, and intestinal malrotation. Severe malnutrition develops as a result of the hugely reduced absorptive surface of the small intestine, and infants require parenteral nutrition for survival; however, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life (summary by van der Werf et al., 2012).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Hearing impairment
MedGen UID:
5453
Concept ID:
C0018772
Finding
A condition in which a person partially loses the ability to hear sounds in one or both ears.
Recurrent infections of the middle ear
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Intellectual disability, profound
MedGen UID:
43816
Concept ID:
C0020796
Mental or Behavioral Dysfunction
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Neurodegeneration
MedGen UID:
17999
Concept ID:
C0027746
Cell or Molecular Dysfunction
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Cervical cord compression
MedGen UID:
167271
Concept ID:
C0852866
Finding
Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.
Tracheobronchomalacia
MedGen UID:
137939
Concept ID:
C0340231
Disease or Syndrome
A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
Heparan sulfate excretion in urine
MedGen UID:
340721
Concept ID:
C1854827
Finding
An increased concentration of heparan sulfates in the urine.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Asthma
MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Recurrent infections of the middle ear
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
Heparan sulfate excretion in urine
MedGen UID:
340721
Concept ID:
C1854827
Finding
An increased concentration of heparan sulfates in the urine.
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
An unnaturally deep or rough quality of voice.
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Abnormally increased curvature of the thoracic portion of the spine.
Hurler syndrome
MedGen UID:
39698
Concept ID:
C0086795
Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap; thus, affected individuals are best described as having either severe or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory-tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal. By age three years, linear growth decreases. Intellectual disability is progressive and profound. Hearing loss is common. Death, typically caused by cardiorespiratory failure, usually occurs within the first ten years of life. Attenuated MPS I. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decades to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities can be present. Clinical onset is usually between ages three and ten years. Hearing loss and cardiac valvular disease are common.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
A finding indicating enlargement of the tongue.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Coarse facial features
MedGen UID:
335284
Concept ID:
C1845847
Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Thick lower lip vermilion
MedGen UID:
473520
Concept ID:
C2053437
Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Flexion contracture
MedGen UID:
3227
Concept ID:
C0009917
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
An abdominal hernia with an external bulge in the GROIN region. It can be classified by the location of herniation. Indirect inguinal hernias occur through the internal inguinal ring. Direct inguinal hernias occur through defects in the ABDOMINAL WALL (transversalis fascia) in Hesselbach's triangle. The former type is commonly seen in children and young adults; the latter in adults.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Hypertrichosis
MedGen UID:
43787
Concept ID:
C0020555
Disease or Syndrome
Excessive hair growth anywhere on the body.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis, MPS-II

Professional guidelines

PubMed

Giugliani R, Villarreal ML, Valdez CA, Hawilou AM, Guelbert N, Garzón LN, Martins AM, Acosta A, Cabello JF, Lemes A, Santos ML, Amartino H
Genet Mol Biol 2014 Jun;37(2):315-29. PMID: 25071396Free PMC Article
Beck M, Wijburg FA, Gal A
Eur J Hum Genet 2012 Jan;20(1) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.143. PMID: 21863056Free PMC Article

Recent clinical studies

Etiology

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP
Dev Med Child Neurol 2017 Oct;59(10):1063-1070. Epub 2017 May 25 doi: 10.1111/dmcn.13467. PMID: 28543354
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Muenzer J, Hendriksz CJ, Fan Z, Vijayaraghavan S, Perry V, Santra S, Solanki GA, Mascelli MA, Pan L, Wang N, Sciarappa K, Barbier AJ
Genet Med 2016 Jan;18(1):73-81. Epub 2015 Apr 2 doi: 10.1038/gim.2015.36. PMID: 25834948
Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. PMID: 23988379
Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK
Orphanet J Rare Dis 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. PMID: 23497636Free PMC Article

Diagnosis

Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Kosuga M, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T
Mol Genet Metab 2016 Jul;118(3):190-7. Epub 2016 May 7 doi: 10.1016/j.ymgme.2016.05.003. PMID: 27246110
Shimada Y, Wakabayashi T, Akiyama K, Hoshina H, Higuchi T, Kobayashi H, Eto Y, Ida H, Ohashi T
Mol Genet Metab 2016 Feb;117(2):140-3. Epub 2015 May 21 doi: 10.1016/j.ymgme.2015.05.009. PMID: 26051019
Moreira GA, Kyosen SO, Patti CL, Martins AM, Tufik S
Sleep Breath 2014 Dec;18(4):791-7. Epub 2014 Apr 5 doi: 10.1007/s11325-014-0944-6. PMID: 24705807
Dodsworth C, Burton BK
Mol Genet Metab 2014 Feb;111(2):203-4. Epub 2013 Nov 4 doi: 10.1016/j.ymgme.2013.10.015. PMID: 24238892

Therapy

Muenzer J, Hendriksz CJ, Fan Z, Vijayaraghavan S, Perry V, Santra S, Solanki GA, Mascelli MA, Pan L, Wang N, Sciarappa K, Barbier AJ
Genet Med 2016 Jan;18(1):73-81. Epub 2015 Apr 2 doi: 10.1038/gim.2015.36. PMID: 25834948
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS
Mol Genet Metab 2014 Feb;111(2):128-32. Epub 2013 Nov 12 doi: 10.1016/j.ymgme.2013.11.001. PMID: 24268528Free PMC Article
Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. PMID: 23988379
Sohn YB, Cho SY, Park SW, Kim SJ, Ko AR, Kwon EK, Han SJ, Jin DK
Orphanet J Rare Dis 2013 Mar 18;8:42. doi: 10.1186/1750-1172-8-42. PMID: 23497636Free PMC Article
Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T
Mol Genet Metab 2010 Jan;99(1):18-25. doi: 10.1016/j.ymgme.2009.08.006. PMID: 19773189

Prognosis

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP
Dev Med Child Neurol 2017 Oct;59(10):1063-1070. Epub 2017 May 25 doi: 10.1111/dmcn.13467. PMID: 28543354
Lin HY, Chuang CK, Huang YH, Tu RY, Lin FJ, Lin SJ, Chiu PC, Niu DM, Tsai FJ, Hwu WL, Chien YH, Lin JL, Chou YY, Tsai WH, Chang TM, Lin SP
Orphanet J Rare Dis 2016 Jun 27;11(1):85. doi: 10.1186/s13023-016-0471-6. PMID: 27349225Free PMC Article
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS
Mol Genet Metab 2014 Feb;111(2):128-32. Epub 2013 Nov 12 doi: 10.1016/j.ymgme.2013.11.001. PMID: 24268528Free PMC Article
Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. PMID: 23988379
Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T
Mol Genet Metab 2010 Jan;99(1):18-25. doi: 10.1016/j.ymgme.2009.08.006. PMID: 19773189

Clinical prediction guides

Vollebregt AAM, Hoogeveen-Westerveld M, Kroos MA, Oussoren E, Plug I, Ruijter GJ, van der Ploeg AT, Pijnappel WWMP
Dev Med Child Neurol 2017 Oct;59(10):1063-1070. Epub 2017 May 25 doi: 10.1111/dmcn.13467. PMID: 28543354
Muenzer J, Hendriksz CJ, Fan Z, Vijayaraghavan S, Perry V, Santra S, Solanki GA, Mascelli MA, Pan L, Wang N, Sciarappa K, Barbier AJ
Genet Med 2016 Jan;18(1):73-81. Epub 2015 Apr 2 doi: 10.1038/gim.2015.36. PMID: 25834948
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS
Mol Genet Metab 2014 Feb;111(2):128-32. Epub 2013 Nov 12 doi: 10.1016/j.ymgme.2013.11.001. PMID: 24268528Free PMC Article
Barbier AJ, Bielefeld B, Whiteman DA, Natarajan M, Pano A, Amato DA
Mol Genet Metab 2013 Nov;110(3):303-10. Epub 2013 Aug 9 doi: 10.1016/j.ymgme.2013.08.002. PMID: 23988379
Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T
Mol Genet Metab 2010 Jan;99(1):18-25. doi: 10.1016/j.ymgme.2009.08.006. PMID: 19773189

Recent systematic reviews

da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2016 Feb 5;2:CD008185. doi: 10.1002/14651858.CD008185.pub4. PMID: 26845288
da Silva EM, Strufaldi MW, Andriolo RB, Silva LA
Cochrane Database Syst Rev 2014 Jan 8;(1):CD008185. doi: 10.1002/14651858.CD008185.pub3. PMID: 24399699
Malik V, Nichani J, Rothera MP, Wraith JE, Jones SA, Walker R, Bruce IA
Int J Pediatr Otorhinolaryngol 2013 Jul;77(7):1204-8. Epub 2013 May 31 doi: 10.1016/j.ijporl.2013.05.002. PMID: 23726952
Frawley G, Fuenzalida D, Donath S, Yaplito-Lee J, Peters H
Paediatr Anaesth 2012 Aug;22(8):737-44. Epub 2012 Mar 2 doi: 10.1111/j.1460-9592.2012.03825.x. PMID: 22381044
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council.
Orphanet J Rare Dis 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. PMID: 22059643Free PMC Article

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