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)

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Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
27 (4.0%)	1906048	The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). Wraith JE, Cooper A, Thornley M, Wilson PJ, Nelson PV, Morris CP, Hopwood JJ. Hum Genet. 1991;87(2):205-6. [ Show abstract ] [ Hide abstract ]
		Ptosis
		IDS

		Child Chromosome Deletion Homo sapiens Iduronate Sulfatase Male Mucopolysaccharidosis II Phenotype
27 (4.0%)	404968	A cutaneous marker in the Hunter syndrome a report of four cases. Prystowsky SD, Maumenee IH, Freeman RG, Herndon JH Jr, Harrod MJ. Arch Dermatol. 1977;113(5):602-5. [ Show abstract ] [ Hide abstract ]
		White papule


		Chest Child Congenital Hand Deformities Homo sapiens Intellectual Disability Male Mucopolysaccharidosis II Skin Manifestations
27 (4.0%)	187158	Peripheral nerve involvement in Hunter syndrome (mucopolysaccharidosis II). Swift TR, McDonald TF. Arch Neurol. 1976;33(12):845-6. [ Show abstract ] [ Hide abstract ]
		Zebra bodies


		Adult Homo sapiens Inclusion Bodies Male Mucopolysaccharidosis II Peripheral Nerves Schwann Cells
27 (4.0%)	140775	Mild and severe Hunter syndrome (MPS II) within the same sibships. Yatziv S, Erickson RP, Epstein CJ. Clin Genet. 1977;11(5):319-26. [ Show abstract ] [ Hide abstract ]
		Psychomotor retardation


		Child Diseases in Twins Females Glycosaminoglycans Homo sapiens Intelligence Tests Male Mucopolysaccharidosis II Pregnancy Sex Chromosomes
27 (4.0%)	132078	Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). Nagashima K, Endo H, Sakakibara K, Konishi Y, Miyachi K, Wey JJ, Suzuki Y, Onisawa J. Acta Pathol Jpn. 1976;26(1):115-32. [ Show abstract ] [ Hide abstract ]
		Hepatosplenomegaly


		Adult Brain Connective Tissue Connective Tissue Cells Fibroblasts Glycosaminoglycans Homo sapiens Lipids Liver Male Mitral Valve Mucopolysaccharidosis II Nerve Tissue
27 (4.0%)	112128	A pathological basis for the cutaneous papules of mucopolysaccharidosis II (the Hunter syndrome). Freeman RG. J Cutan Pathol. 1977;4(6):318-28. [ Show abstract ] [ Hide abstract ]
		Papule


		Child Homo sapiens Male Mucopolysaccharidosis II Skin Vacuole

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