MCID: JVN036
MIFTS: 14

Juvenile Sialidosis Type 2

Categories: Bone diseases, Eye diseases, Fetal diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Juvenile Sialidosis Type 2

MalaCards integrated aliases for Juvenile Sialidosis Type 2:

Name: Juvenile Sialidosis Type 2 60

Characteristics:

Orphanet epidemiological data:

60
juvenile sialidosis type 2
Inheritance: Autosomal recessive;

Classifications:



External Ids:

ICD10 via Orphanet 35 E77.1
Orphanet 60 ORPHA93399

Summaries for Juvenile Sialidosis Type 2

MalaCards based summary : Juvenile Sialidosis Type 2 An important gene associated with Juvenile Sialidosis Type 2 is NEU1 (Neuraminidase 1). Affiliated tissues include bone, eye and brain.

Related Diseases for Juvenile Sialidosis Type 2

Symptoms & Phenotypes for Juvenile Sialidosis Type 2

Drugs & Therapeutics for Juvenile Sialidosis Type 2

Search Clinical Trials , NIH Clinical Center for Juvenile Sialidosis Type 2

Genetic Tests for Juvenile Sialidosis Type 2

Anatomical Context for Juvenile Sialidosis Type 2

MalaCards organs/tissues related to Juvenile Sialidosis Type 2:

42
Bone, Eye, Brain

Publications for Juvenile Sialidosis Type 2

Articles related to Juvenile Sialidosis Type 2:

(show top 50) (show all 61)
# Title Authors Year
1
Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach. ( 30742879 )
2019
2
Treatment of deep vein thrombosis in a patient with Behçet syndrome using ultrasound-accelerated catheter-directed thrombolysis. ( 30398005 )
2018
3
Surgical treatment of intestinal perforation in Behçet Syndrome: an unusual presentation. ( 30574248 )
2018
4
Cardiac thrombosis as a manifestation of Behçet syndrome. ( 20978571 )
2010
5
Behçet syndrome. ( 21163169 )
2010
6
Constitutional trisomy 8 and Behçet syndrome. ( 19353586 )
2009
7
Cardiovascular complications in Behçet syndrome: acute myocardial infarction with late stent thrombosis and coronary, ventricular, and femoral pseudoaneurysms. ( 19876442 )
2009
8
Myelodysplastic syndrome with trisomy 8 associated with Behçet syndrome: an immunologic link to a karyotypic abnormality. ( 17066465 )
2008
9
Hearing loss in Behçet syndrome. ( 17765772 )
2007
10
Neuro-Behçet syndrome presenting as acute meningeal syndrome. ( 16197999 )
2006
11
Lower limb hypertrophic osteoarthropathy can reveal aortic graft infection in Behçet syndrome. ( 16319095 )
2006
12
Bilateral pulmonary artery aneurysm in Behçet syndrome: report of two operative cases. ( 15867796 )
2005
13
Behçet syndrome. ( 14673387 )
2004
14
Behçet syndrome and headache. ( 14979892 )
2004
15
Topiramate-responsive headache due to idiopathic intracranial hypertension in Behçet syndrome. ( 15147251 )
2004
16
Pulmonary artery aneurysms in Behçet syndrome. ( 15589493 )
2004
17
The long-term mortality and morbidity of Behçet syndrome: a 2-decade outcome survey of 387 patients followed at a dedicated center. ( 12544711 )
2003
18
Inferior mesenteric artery aneurysm in Behçet syndrome. ( 14681655 )
2003
19
Therapeutic experience of hyperbaric oxygenation in entero-Behcet syndrome. ( 11316200 )
2001
20
Clinicopathologic evaluation of nodular cutaneous lesions of Behçet syndrome. ( 11554161 )
2001
21
CNS involvement in neuro-Behçet syndrome: an MR study. ( 10445437 )
1999
22
Thalidomide in the treatment of the mucocutaneous lesions of the Behçet syndrome. A randomized, double-blind, placebo-controlled trial. ( 9499327 )
1998
23
Cerebral hypoperfusion detected by SPET in early neuro-Behçet syndrome. ( 9751932 )
1998
24
Intestinal Behçet syndrome: CT features of patients with and patients without complications. ( 9807572 )
1998
25
Bilateral pulmonary artery aneurysms in a patient with Behcet syndrome: evaluation with radionuclide angiography and V/Q lung scanning. ( 9814558 )
1998
26
Mucocutaneous lesions in the Behçet syndrome. ( 9841592 )
1998
27
Treatment of hemoptysis in Behçet syndrome with pulmonary and bronchial embolization. ( 9399476 )
1997
28
The angio-Behçet syndrome. ( 8772357 )
1996
29
Seven-year follow-up of neurologic involvement in Behçet syndrome. ( 8929179 )
1996
30
Behçet syndrome with ankylosing spondylitis. ( 7606426 )
1995
31
Thoracic manifestations of Behçet syndrome: radiographic and CT findings in nine patients. ( 7997553 )
1995
32
A clinical case of neuro-Behçet syndrome without mucocutaneo-ocular symptoms: relationship with brain stem encephalitis. ( 8726111 )
1995
33
Sleep apnea and palatal myoclonus in a patient with neuro-Behçet syndrome. ( 8358127 )
1993
34
Pulmonary aneurysm in Behcet syndrome: Two case reports and review of the literature. ( 17589096 )
1993
35
Central nervous system magnetic resonance imaging findings in neuro-Behçet syndrome. ( 2306701 )
1990
36
PET and MR imaging in a neuro-Behçet syndrome. ( 2583209 )
1989
37
Audiologic pathology in Behçet syndrome. ( 2610234 )
1989
38
Portal hypertension in Behçet syndrome. ( 2718880 )
1989
39
Cardiac and pulmonary manifestations of Behçet syndrome. ( 2458581 )
1988
40
Massive haemoptysis in Behçet syndrome: case report. ( 3438591 )
1987
41
Magnetic resonance images of neuro-Behçet syndrome show precise brain stem lesions. Report of a case. ( 3577671 )
1987
42
An autopsy case of chronic nodular encephalomyelitis simulating neuro-Behçet syndrome. ( 3599566 )
1986
43
Behcet syndrome presenting as cerebrovascular disease. ( 3746317 )
1986
44
Behçet syndrome: a rare case of pulmonary involvement. ( 3817063 )
1986
45
Behçet syndrome. ( 4009339 )
1985
46
Behcet syndrome. ( 6490147 )
1984
47
A case of pregnancy in a patient suffering from the Behcet syndrome: immunological aspects. ( 6730868 )
1984
48
Periodic lateralized EEG abnormality in a case of Neuro-Behcet syndrome. ( 6733936 )
1984
49
Behçet syndrome: report of two early-onset cases treated with transfer factor. ( 6735695 )
1984
50
Ileal ring ulcers in behçet syndrome. ( 6601440 )
1983

Variations for Juvenile Sialidosis Type 2

Expression for Juvenile Sialidosis Type 2

Search GEO for disease gene expression data for Juvenile Sialidosis Type 2.

Pathways for Juvenile Sialidosis Type 2

GO Terms for Juvenile Sialidosis Type 2

Sources for Juvenile Sialidosis Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....