Mucopolysaccharidosis type 2

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.



Input patient's signs and symptoms


Narrow down the case reports



Total: 86 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(50.4%)		 25952974
 Hunter syndrome with its typical heart: a close mimic to rheumatic heart.
Madireddi J, P S, Shetty RK, Prabhu M, K M G.
BMJ Case Rep. 2015;2015:.
Coarse facial features Cubitus valgus
Adult Cardiomegaly Echocardiography Enzyme Replacement Therapy Heart Valves Homo sapiens Male Mucopolysaccharidosis II Rare Diseases Rheumatic Heart Disease Young Adult
2
(41.7%)		 22190500
 Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).
Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR.
J Child Neurol. 2012;27(6):786-90.
Macrocephaly Coarse facial features Widely spaced teeth
AFF2 FMR1 IDS
Child, Preschool Chromosome Aberrations Chromosome Mapping Chromosomes, Human, X Fragile X Mental Retardation Protein Fragile X Syndrome Glycoproteins Homo sapiens Male Mucopolysaccharidosis II Nuclear Proteins Sequence Deletion
3
(39.0%)		 2112988
 Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.
Clarke JT, Willard HF, Teshima I, Chang PL, Skomorowski MA.
Clin Genet. 1990;37(5):355-62.
Macrocephaly
GUSB MANBA OGA
Arylsulfatases Females Genes, Recessive Homo sapiens Iduronate Sulfatase Infant Mucopolysaccharidosis I Mucopolysaccharidosis II Sulfatases X Chromosome
3
(39.0%)		 146740
 Hunter syndrome presenting as macrocephaly and hydrocephalus.
Yatziv S, Epstein CJ.
J Med Genet. 1977;14(6):445-7.
Macrocephaly
Child, Preschool Differential Diagnosis Glycosaminoglycans Head Homo sapiens Hydrocephalus Male Mucopolysaccharidosis II Syndrome
5
(38.6%)		 22629520
(3354861)
 Short stature with umbilical hernia - Not always due to cretinism: A report of two cases.
Gadve SS, Sarma D, Saikia UK.
Indian J Endocrinol Metab. 2012;16(3):453-6.
Coarse facial features Anterior beaking of lumbar vertebrae
6
(37.2%)		 22433425
 Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II.
Nava E, Weber P, Gautschi M, Nuoffer JM, Grunt S.
J Child Neurol. 2012;27(12):1611-5.
Coarse facial features Joint stiffness
Child, Preschool Equinus Deformity Homo sapiens Infant Male Mucopolysaccharidosis II Neuromuscular Agents
7
(37.2%)		 9780074
 Acute airway obstruction in Hunter syndrome.
Yoskovitch A, Tewfik TL, Brouillette RT, Schloss MD, Der Kaloustian VM.
Int J Pediatr Otorhinolaryngol. 1998;44(3):273-8.
Short neck
Airway Obstruction Child Homo sapiens Male Mucopolysaccharidosis II
7
(37.2%)		 9251512
 [Anesthetic management of a child with Hunter syndrome associated with sleep apnea].
Yamada K, Nakagawa I, Kubota M, Niinai H, Kamiya T.
Masui. 1997;46(7):955-8.
Short neck
Adenoidectomy Airway Obstruction Child, Preschool General Anesthesia Homo sapiens Intubation, Intratracheal Male Mucopolysaccharidosis II Postoperative Care Postoperative Complications Respiration, Artificial Sleep Apnea Syndromes
9
(31.0%)		 23209998
(3507130)
 Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome).
Chinawa J, Adimora G, Obu H, Tagbo B, Ujunwa F, Onubogu I.
Ann Med Health Sci Res. 2012;2(1):87-90.
Clubbing
10
(26.3%)		 21672014
 Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up.
Tylki-Szymanska A, Jurecka A, Zuber Z, Rozdzynska A, Marucha J, Czartoryska B.
Acta Paediatr. 2012;101(1):e42-7.
Coarse facial features
Child, Preschool Diseases in Twins Enzyme Replacement Therapy Follow-Up Studies Homo sapiens Iduronate Sulfatase Infant Male Mucopolysaccharidosis II
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000179 Thick lower lip vermilion Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000280 Coarse facial features Very frequent (99-80%)
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000457 Depressed nasal ridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000648 Optic atrophy Very frequent (99-80%)
HP:0000687 Widely spaced teeth Very frequent (99-80%)
HP:0000708 Behavioral abnormality Very frequent (99-80%)
HP:0001072 Thickened skin Very frequent (99-80%)
HP:0001085 Papilledema Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002187 Intellectual disability, profound Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0008155 Mucopolysacchariduria Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000403 Recurrent otitis media Frequent (79-30%)
HP:0000767 Pectus excavatum Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0001626 Abnormality of the cardiovascular system Frequent (79-30%)
HP:0002024 Malabsorption Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0007703 Abnormality of retinal pigmentation Frequent (79-30%)
HP:0000158 Macroglossia Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001601 Laryngomalacia Occasional (29-5%)
HP:0002777 Tracheal stenosis Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 38

HPO ID Term # of case reports
HP:0001297 Stroke 3
HP:0000023 Inguinal hernia 2
HP:0001433 Hepatosplenomegaly 2
HP:0004322 Short stature 2
HP:0010307 Stridor 2
HP:0010535 Sleep apnea 2
HP:0000256 Macrocephaly 1
HP:0000572 Visual loss 1
HP:0001257 Spasticity 1
HP:0001263 Global developmental delay 1
HP:0001334 Communicating hydrocephalus 1
HP:0001395 Hepatic fibrosis 1
HP:0001678 Atrioventricular block 1
HP:0001718 Mitral stenosis 1
HP:0001878 Hemolytic anemia 1
HP:0002094 Dyspnea 1
HP:0002133 Status epilepticus 1
HP:0002140 Ischemic stroke 1
HP:0002196 Myelopathy 1
HP:0002240 Hepatomegaly 1
HP:0002318 Cervical myelopathy 1
HP:0002777 Tracheal stenosis 1
HP:0002791 Hypoventilation 1
HP:0002870 Obstructive sleep apnea 1
HP:0002878 Respiratory failure 1
HP:0003198 Myopathy 1
HP:0003302 Spondylolisthesis 1
HP:0003423 Thoracolumbar kyphoscoliosis 1
HP:0008430 Anterior beaking of lumbar vertebrae 1
HP:0011951 Aspiration pneumonia 1
HP:0012307 Spatulate ribs 1
HP:0025267 Snoring 1
HP:0025324 Arterial occlusion 1
HP:0030148 Heart murmur 1
HP:0031625 Pseudoaneurysm 1
HP:0100014 Epiretinal membrane 1
HP:0100832 Vitreous floaters 1
HP:0200034 Papule 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID