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Mucopolysaccharidosis, type 10(MPS10)

MedGen UID:
1794274
Concept ID:
C5562064
Disease or Syndrome
Synonyms: ARSK DEFICIENCY; ARYLSULFATASE K DEFICIENCY; Mucopolysaccharidosis, type 10
 
Gene (location): ARSK (5q15)
 
Monarch Initiative: MONDO:0030524
OMIM®: 619698

Definition

Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities (Verheyen et al., 2022). [from OMIM]

Clinical features

From HPO
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Dermatan sulfate excretion in urine
MedGen UID:
343207
Concept ID:
C1854774
Finding
An increased concentration of dermatan sulfate in the urine.
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.
Irregular acetabular roof
MedGen UID:
331872
Concept ID:
C1834975
Finding
Aortic regurgitation
MedGen UID:
8153
Concept ID:
C0003504
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Thickened aortic valve cusp
MedGen UID:
1613159
Concept ID:
C4531033
Anatomical Abnormality
An abnormally increased thickness of a leaflet of the aortic valve.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Broad clavicles
MedGen UID:
98091
Concept ID:
C0426801
Finding
Increased width (cross-sectional diameter) of the clavicles.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
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.
Broad ribs
MedGen UID:
336390
Concept ID:
C1848654
Finding
Increased width of ribs
Posterior scalloping of vertebral bodies
MedGen UID:
337993
Concept ID:
C1850196
Finding
An excessive concavity of the posterior surface of one or more vertebral bodies.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Spatulate ribs
MedGen UID:
344777
Concept ID:
C1856637
Finding
Ribs that are increased in width and taper to the posterior ends.
Developmental dysplasia of the hip
MedGen UID:
1640560
Concept ID:
C4551649
Congenital Abnormality
Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.
Diastema
MedGen UID:
3800
Concept ID:
C0011998
Finding
Increased space between two adjacent teeth in the same dental arch.
Open bite
MedGen UID:
78589
Concept ID:
C0266061
Anatomical Abnormality
Visible space between the dental arches in occlusion.
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.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Vitreous floaters
MedGen UID:
5217
Concept ID:
C0016242
Finding
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.

Professional guidelines

PubMed

Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA
Orphanet J Rare Dis 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. PMID: 30658664Free PMC Article

Recent clinical studies

Etiology

Dias BMC, Lanza FC, Santos JD, Aranda CS, Solé D, Martins AM, Wandalsen GF
Pediatr Pulmonol 2022 Feb;57(2):538-543. Epub 2021 Nov 11 doi: 10.1002/ppul.25750. PMID: 34741588
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free PMC Article
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Diagnosis

Aboulnasr AA, Elnouri A, Abdel Sameea G, Gouda AS, Ibrahim MM, Shalabi TA, Gaber KR
J Obstet Gynaecol Res 2022 Mar;48(3):682-687. Epub 2022 Jan 13 doi: 10.1111/jog.15135. PMID: 35026871
D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
Khan SA, Tomatsu SC
Int J Mol Sci 2020 Sep 17;21(18) doi: 10.3390/ijms21186812. PMID: 32957425Free PMC Article
Sawamoto K, Stapleton M, Alméciga-Díaz CJ, Espejo-Mojica AJ, Losada JC, Suarez DA, Tomatsu S
Drugs 2019 Jul;79(10):1103-1134. doi: 10.1007/s40265-019-01147-4. PMID: 31209777
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Therapy

D'Avanzo F, Zanetti A, De Filippis C, Tomanin R
Int J Mol Sci 2021 Dec 15;22(24) doi: 10.3390/ijms222413456. PMID: 34948256Free PMC Article
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Wraith JE, Jones S
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:102-6. PMID: 25345091

Prognosis

Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA
Orphanet J Rare Dis 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. PMID: 30658664Free PMC Article
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S
Mol Genet Metab 2017 Jul;121(3):227-240. Epub 2017 May 26 doi: 10.1016/j.ymgme.2017.05.016. PMID: 28595941Free PMC Article
Kiely BT, Kohler JL, Coletti HY, Poe MD, Escolar ML
Orphanet J Rare Dis 2017 Feb 14;12(1):32. doi: 10.1186/s13023-017-0583-7. PMID: 28193245Free PMC Article
White KK, Karol LA, White DR, Hale S
J Pediatr Orthop 2011 Jul-Aug;31(5):594-8. doi: 10.1097/BPO.0b013e31821f5ee9. PMID: 21654471

Clinical prediction guides

Dias BMC, Lanza FC, Santos JD, Aranda CS, Solé D, Martins AM, Wandalsen GF
Pediatr Pulmonol 2022 Feb;57(2):538-543. Epub 2021 Nov 11 doi: 10.1002/ppul.25750. PMID: 34741588
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group
N Engl J Med 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. PMID: 34788506
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP
Orphanet J Rare Dis 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. PMID: 31196149Free PMC Article
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS
J Med Genet 2016 Jun;53(6):403-18. Epub 2016 Feb 23 doi: 10.1136/jmedgenet-2015-103322. PMID: 26908836Free PMC Article

Recent systematic reviews

Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2021 Sep 17;9(9):CD009806. doi: 10.1002/14651858.CD009806.pub3. PMID: 34533215Free PMC Article
Kong W, Wu S, Zhang J, Lu C, Ding Y, Meng Y
J Pediatr Endocrinol Metab 2021 Oct 26;34(10):1225-1235. Epub 2021 Jul 19 doi: 10.1515/jpem-2020-0742. PMID: 34271605
Brunelli MJ, Atallah ÁN, da Silva EM
Cochrane Database Syst Rev 2016 Mar 4;3:CD009806. doi: 10.1002/14651858.CD009806.pub2. PMID: 26943923
Angelis A, Tordrup D, Kanavos P
Health Policy 2015 Jul;119(7):964-79. Epub 2014 Dec 30 doi: 10.1016/j.healthpol.2014.12.016. PMID: 25661982
Connock M, Juarez-Garcia A, Frew E, Mans A, Dretzke J, Fry-Smith A, Moore D
Health Technol Assess 2006 Jun;10(20):iii-iv, ix-113. doi: 10.3310/hta10200. PMID: 16729919

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