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Mucopolysaccharidosis type 6(MPS6)

MedGen UID:
44514
Concept ID:
C0026709
Disease or Syndrome
Synonyms: Arylsulfatase B deficiency; Maroteaux Lamy syndrome; MPS 6; MPS VI; MPS6; Mucopolysaccharidosis type VI; N-acetylgalactosamine-4-sulfatase deficiency
SNOMED CT: Maroteaux-Lamy syndrome (69463008); N-acetylgalactosamine-4-sulfatase deficiency (69463008); Polydystrophic dwarfism (69463008); Mucopolysaccharidosis, MPS-VI (69463008); Mucopolysaccharidosis chondroitin sulfate B (69463008); ARSB deficiency (69463008); Arylsulfatase B deficiency (69463008); Maroteaux-Lamy disease (69463008); Mucopolysaccharidosis type VI (69463008); MPS VI - Mucopolysaccharidosis VI (69463008); ARSB - Arylsulfatase B deficiency (69463008); N-Acetylgalactosamine-4-sulfatase deficiency (69463008); Deficiency of N-acetylgalactosamine-4-sulfatase (52677002)
 
Gene (location): ARSB (5q14.1)
 
Monarch Initiative: MONDO:0009661
OMIM®: 253200
Orphanet: ORPHA583

Definition

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away (atrophy). Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals.\n\nPeople with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI affect many bodily systems, including  skeletal, cardiac, and respiratory.\n\nMPS VI causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Other skeletal features include short stature, joint deformities (contractures) that affect mobility, and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VI and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VI may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord. \n\nCardiac problems in people with MPS VI typically includes heart valve abnormalities. Respiratory abnormalities in this condition may involve the airway becoming narrow, which leads to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). \n\nOther features of MPS VI include an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The clear covering of the eye (cornea) typically becomes cloudy, which can cause significant vision loss. People with MPS VI may also have recurrent ear infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI does not affect intelligence.\n\nThe life expectancy of individuals with MPS VI depends on the severity of symptoms. Without treatment, severely affected individuals may survive only until late childhood or adolescence. Those with milder forms of the disorder usually live into adulthood, although their life expectancy may be reduced. Heart disease and airway obstruction are major causes of death in people with MPS VI.  https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi

Clinical features

From HPO
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
Hypoplastic acetabulae
MedGen UID:
375890
Concept ID:
C1846442
Finding
Underdeveloped acetabulae.
Abnormal heart valve morphology
MedGen UID:
892837
Concept ID:
C0241654
Finding
Any structural abnormality of a cardiac valve.
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.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Cervical myelopathy
MedGen UID:
57691
Concept ID:
C0149645
Disease or Syndrome
Constrictive median neuropathy
MedGen UID:
868610
Concept ID:
C4023009
Anatomical Abnormality
Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Anatomical Abnormality
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
Avascular necrosis
MedGen UID:
10200
Concept ID:
C0027543
Disease or Syndrome
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
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. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) 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, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, 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 and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
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.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Prominent sternum
MedGen UID:
337578
Concept ID:
C1846433
Finding
Disproportionate short-trunk short stature
MedGen UID:
337580
Concept ID:
C1846435
Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Hypoplasia of the odontoid process
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Flared iliac wing
MedGen UID:
356097
Concept ID:
C1865841
Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Anterior wedging of L2
MedGen UID:
868711
Concept ID:
C4023114
Finding
An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).
Anterior wedging of L1
MedGen UID:
870239
Concept ID:
C4024677
Anatomical Abnormality
An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
The presence of developmental dysplasia of the hip.
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).
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
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.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMucopolysaccharidosis type 6
Follow this link to review classifications for Mucopolysaccharidosis type 6 in Orphanet.

Professional guidelines

PubMed

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P
Mol Genet Metab 2012 May;106(1):73-82. Epub 2012 Feb 10 doi: 10.1016/j.ymgme.2012.02.005. PMID: 22405600

Recent clinical studies

Diagnosis

Vougioukas VI, Berlis A, Kopp MV, Korinthenberg R, Spreer J, van Velthoven V
Pediatr Neurosurg 2001 Jul;35(1):35-8. doi: 10.1159/000050383. PMID: 11490189

Prognosis

Vougioukas VI, Berlis A, Kopp MV, Korinthenberg R, Spreer J, van Velthoven V
Pediatr Neurosurg 2001 Jul;35(1):35-8. doi: 10.1159/000050383. PMID: 11490189

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