MCID: LYS030
MIFTS: 25

Lysosomal Storage Disease with Skeletal Involvement

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Lysosomal Storage Disease with Skeletal Involvement

MalaCards integrated aliases for Lysosomal Storage Disease with Skeletal Involvement:

Name: Lysosomal Storage Disease with Skeletal Involvement 58
Dysostosis Multiplex 58

Classifications:

Orphanet: 58  
Rare bone diseases


External Ids:

Orphanet 58 ORPHA93448

Summaries for Lysosomal Storage Disease with Skeletal Involvement

MalaCards based summary : Lysosomal Storage Disease with Skeletal Involvement, also known as dysostosis multiplex, is related to hurler syndrome and scheie syndrome. An important gene associated with Lysosomal Storage Disease with Skeletal Involvement is IDUA (Alpha-L-Iduronidase). Affiliated tissues include bone, bone marrow and skin.

Related Diseases for Lysosomal Storage Disease with Skeletal Involvement

Diseases related to Lysosomal Storage Disease with Skeletal Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 23, show less)
# Related Disease Score Top Affiliating Genes
1 hurler syndrome 12.4
2 scheie syndrome 11.8
3 mucopolysaccharidosis-plus syndrome 11.8
4 mucopolysaccharidosis, type vi 11.7
5 mucolipidosis ii alpha/beta 11.6
6 mucopolysaccharidosis, type vii 11.6
7 fucosidosis 11.6
8 mucopolysaccharidosis, type ii 11.6
9 mucolipidosis iii gamma 11.5
10 galactosialidosis 11.5
11 glycoproteinosis 11.5
12 mannosidosis, alpha b, lysosomal 11.3
13 mucolipidosis iii alpha/beta 11.3
14 neuraminidase deficiency 11.3
15 multiple sulfatase deficiency 11.3
16 hurler-scheie syndrome 11.3
17 mucopolysaccharidosis iii 11.3
18 mucopolysaccharidosis iv 11.3
19 dysostosis 10.6
20 marfan syndrome 9.9
21 gm1-gangliosidosis, type i 9.9
22 mucolipidosis 9.9
23 blood protein disease 9.9

Graphical network of the top 20 diseases related to Lysosomal Storage Disease with Skeletal Involvement:



Diseases related to Lysosomal Storage Disease with Skeletal Involvement

Symptoms & Phenotypes for Lysosomal Storage Disease with Skeletal Involvement

Drugs & Therapeutics for Lysosomal Storage Disease with Skeletal Involvement

Interventional clinical trials:

(showing 4, show less)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
2 Biomarker for Hurler Disease - An International, Multicenter, Epidemiological Protocol Recruiting NCT02298712
3 Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298673
4 Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298647

Search NIH Clinical Center for Lysosomal Storage Disease with Skeletal Involvement

Genetic Tests for Lysosomal Storage Disease with Skeletal Involvement

Anatomical Context for Lysosomal Storage Disease with Skeletal Involvement

MalaCards organs/tissues related to Lysosomal Storage Disease with Skeletal Involvement:

40
Bone, Bone Marrow, Skin, Eye, Brain, Liver, Testes

Publications for Lysosomal Storage Disease with Skeletal Involvement

Articles related to Lysosomal Storage Disease with Skeletal Involvement:

(showing 202, show less)
# Title Authors PMID Year
1
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review. 61
31064022 2019
2
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. 61
31009684 2019
3
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. 61
30755342 2019
4
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. 61
30740618 2019
5
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. 61
30653816 2019
6
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. 61
30658664 2019
7
Orthopaedic challenges for mucopolysaccharidoses. 61
30442173 2018
8
Mucopolysaccharidoses: overview of neuroimaging manifestations. 61
29752520 2018
9
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition. 61
30094186 2018
10
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61
30235039 2018
11
Mucolipidosis type III, a series of adult patients. 61
29704188 2018
12
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 61
29654786 2018
13
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. 61
30023283 2018
14
Clinical features of Mexican patients with Mucopolysaccharidosis type I. 61
28973713 2017
15
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. 61
28649514 2017
16
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 61
28457718 2017
17
Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. 61
28292383 2017
18
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. 61
27785713 2017
19
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 61
27547915 2017
20
Early characteristic radiographic changes in mucolipidosis II. 61
27525427 2016
21
Sialidoses. 61
27621198 2016
22
Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know. 61
27618324 2016
23
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. 61
26789537 2016
24
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 61
26515723 2016
25
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. 61
26935461 2016
26
Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood. 61
29073299 2016
27
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. 61
26920906 2016
28
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. 61
26713028 2015
29
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). 61
25892708 2015
30
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. 61
25976201 2015
31
The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. 61
25987175 2015
32
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. 61
25214650 2015
33
Spinal involvement in mucopolysaccharidoses: a review. 61
25358811 2015
34
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 61
26108645 2015
35
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. 61
25599668 2015
36
Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I. 61
25359774 2014
37
Mucopolysaccharidosis type I. 61
25345091 2014
38
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country. 61
25044831 2014
39
Whole-exome sequencing expands the phenotype of Hunter syndrome. 61
23844659 2014
40
Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene. 61
25222778 2014
41
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. 61
24636010 2014
42
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. 61
25818965 2014
43
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 61
25190157 2014
44
Siblings with fucosidosis. 61
25250075 2014
45
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. 61
25100895 2014
46
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. 61
24389823 2014
47
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. 61
24056375 2013
48
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. 61
23665161 2013
49
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. 61
23685283 2013
50
Mucopolysaccharidosis type II with inguinal hernia. 61
24908534 2013
51
Imaging findings of mucopolysaccharidoses: a pictorial review. 61
23645566 2013
52
Skeletal abnormalities in lysosomal storage diseases. 61
23858624 2013
53
Effects of idursulfase enzyme replacement therapy for Mucopolysaccharidosis type II when started in early infancy: comparison in two siblings. 61
23375472 2013
54
Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. 61
22971959 2013
55
Prevalence and development of orthopaedic symptoms in the dutch hurler patient population after haematopoietic stem cell transplantation. 61
23430544 2013
56
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. 61
23657977 2013
57
Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II. 61
22433425 2012
58
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth. 61
23227064 2012
59
GM1gangliosidosis: Clinical and radiological clue to diagnosis. 61
23560001 2012
60
Skeletal response to lentiviral mediated gene therapy in a mouse model of MPS VII. 61
22525091 2012
61
Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). 61
21737154 2012
62
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. 61
21672014 2012
63
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. 61
22371915 2012
64
Glycosaminoglycan storage disorders: a review. 61
22013531 2012
65
Orthopaedic aspects of mucopolysaccharidoses. 61
22210667 2011
66
Diagnosis of the mucopolysaccharidoses. 61
22210670 2011
67
Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI. 61
21930407 2011
68
[Maroteaux-Lamy syndrome: a case report]. 61
22123570 2011
69
Long-term amelioration of feline Mucopolysaccharidosis VI after AAV-mediated liver gene transfer. 61
21119624 2011
70
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 61
20175788 2010
71
Mucopolysaccharidosis VI. 61
20385007 2010
72
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. 61
20026495 2010
73
Radiologic and neuroradiologic findings in the mucopolysaccharidoses. 61
21791838 2010
74
Potential role of cathepsin K in the pathophysiology of mucopolysaccharidoses. 61
21629671 2010
75
Lumbar gibbus: early presentation of dysostosis multiplex. 61
19933601 2009
76
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 61
19472408 2009
77
Child with Mongolian spots and dysostosis multiplex. 61
20407650 2009
78
Phenotypic spectrum of fucosidosis in Tunisia. 61
18651239 2008
79
Mucolipidosis III Alpha/Beta 61
20301730 2008
80
Alpha-mannosidosis. 61
18651971 2008
81
Mucopolysaccharidosis Type II 61
20301451 2007
82
Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2. 61
22368665 2006
83
Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. 61
16886594 2006
84
Bilateral patellar dislocation associated with alpha-mannosidase deficiency. 61
16601592 2006
85
Late-onset retinal dystrophy in alpha-mannosidosis. 61
16075219 2005
86
Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease. 61
16170568 2005
87
Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. 61
16363350 2005
88
Mucolipidosis II presenting as severe neonatal hyperparathyroidism. 61
15580357 2005
89
Total hip replacement in identical twins with Scheie Mucopolysaccharidosis. 61
28224584 2005
90
Maroteaux-Lamy syndrome. 61
15531839 2004
91
The clinical presentation of lysosomal storage disorders. 61
15508935 2004
92
Fucosidosis with hypothyroidism: a case report. 61
15214749 2004
93
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder. 61
15635485 2004
94
Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. 61
14561999 2003
95
Molecular pathology of NEU1 gene in sialidosis. 61
14517945 2003
96
T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis. 61
12900784 2003
97
A case of I-cell disease (mucolipidosis II) presenting with craniosynostosis. 61
12483356 2002
98
Mucopolysaccharidosis Type I 61
20301341 2002
99
Articular chondrocytes from animals with a dermatan sulfate storage disease undergo a high rate of apoptosis and release nitric oxide and inflammatory cytokines: a possible mechanism underlying degenerative joint disease in the mucopolysaccharidoses. 61
11555679 2001
100
Clinical course and biochemistry of sialuria. 61
11486897 2001
101
Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex. 61
11279074 2001
102
MR brain imaging of fucosidosis type I. 61
11290499 2001
103
Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). 61
10929365 2000
104
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 61
10767332 2000
105
Histomorphometric analysis of the tibial growth plate in a feline model of mucopolysaccharidosis type VI. 61
10369733 1999
106
Clinical spectrum of infantile free sialic acid storage disease. 61
10069709 1999
107
I-cell disease-like phenotype in mice deficient in mannose 6-phosphate receptors. 61
10341453 1998
108
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. 61
10084733 1998
109
Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. 61
9672523 1998
110
Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex. 61
9507611 1998
111
Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. 61
9356736 1997
112
Ichthyosis: the skin manifestation of multiple sulfatase deficiency. 61
9336808 1997
113
Cutaneous manifestations of fucosidosis. 61
9155966 1997
114
Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. 61
9068295 1997
115
Diagnosis of mucopolysaccharidosis type IIIB. 61
8942024 1996
116
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient. 61
8862621 1996
117
Bony changes in common mucopolysaccharidoses. 61
8755171 1996
118
Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. 61
8554071 1996
119
Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. 61
8826001 1996
120
Evolution of the neuroimaging changes in fucosidosis type II. 61
8982951 1996
121
[Disorders of glycoprotein degradation]. 61
8577045 1995
122
Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. 61
7611045 1995
123
Alpha-mannosidosis: the first Turkish case. 61
7793263 1995
124
[Alpha-mannosidosis]. 61
7900112 1995
125
Hyaluronidase in human somatic tissues and urine: polymorphism and the activity in diseases. 61
7653157 1995
126
Diagnosis of I-cell disease. 61
7831983 1994
127
Storage disorders presenting like mucopolysaccharidosis. 61
8002065 1994
128
I-cell disease. A case report and review of the literature. 61
8016916 1994
129
Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. 61
8006122 1994
130
Mucopolysaccharidosis VII: postmortem biochemical and pathological findings in a young adult with beta-glucuronidase deficiency. 61
8159643 1994
131
A mild form of mucolipidosis type III in four Baluch siblings. 61
8131303 1993
132
Oral zinc therapy in the treatment of alpha-mannosidosis. 61
8357013 1993
133
Arylsulfatase B-deficient mucopolysaccharidosis in rats. 61
8450039 1993
134
[Mucopolysaccharidosis. A case report of Morquio's type-A disease (MPS IV-A)]. 61
1294876 1992
135
Saudi variant of multiple sulfatase deficiency. 61
1588009 1992
136
Animal models for lysosomal storage diseases: a new case of feline mucopolysaccharidosis VI. 61
1583873 1992
137
Fucosidosis revisited: a review of 77 patients. 61
2012122 1991
138
Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form. 61
2148053 1990
139
Dysostosis multiplex. 61
2128085 1990
140
Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl. 61
2112988 1990
141
Mucolipidosis II: correlation between radiological features and histopathology of the bones. 61
2771479 1989
142
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. 61
3142713 1988
143
[Skeletal changes in 2 German children with aspartylglycosaminuria]. 61
2842830 1988
144
Bone dysplasia 'families'. 61
3222210 1988
145
Calvarial hyperostosis: a benign X-linked recessive disorder. 61
3512133 1986
146
Neurovisceral and skeletal GM1-gangliosidosis in dogs with beta-galactosidase deficiency. 61
3925555 1985
147
[Compound Hurler-Scheie disease in 3 siblings]. 61
3932747 1985
148
The stylohyoid ligament in Hurler syndrome and related conditions: comparison with normal children. 61
3918332 1985
149
Pattern recognition in bone dysplasias. 61
4080742 1985
150
N-Acetylneuraminic acid storage disease. 61
4043964 1985
151
Familial recurrence of geleophysic dysplasia. 61
6507494 1984
152
Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidosis, type VI). 61
6435047 1984
153
Alpha-mannosidosis: analysis of urinary oligosaccharides with high performance liquid chromatography and diagnosis of a case with unusually mild presentation. 61
6705257 1984
154
[GM1 gangliosidosis, type I, Landing's disease. Presentation of a case and review of the literature]. 61
6424522 1984
155
Mucolipidosis I. Roentgenographic follow-up. 61
6494932 1984
156
A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1. 61
6414819 1983
157
[Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency]. 61
6415236 1983
158
Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiency. 61
6212020 1982
159
The clinical course of mannosidosis. 61
7149616 1982
160
Three cases of beta-galactosidase deficiency. 61
6790814 1981
161
Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. 61
6777097 1980
162
A severe infantile sialidosis: clinical, biochemical, and microscopic features. 61
7359270 1980
163
Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases. 61
6446239 1980
164
Neuraminidase deficiency in the original patient with the Goldberg syndrome. 61
519904 1979
165
Mucolipidosis type III. Multiple elevated serum and urine enzyme activities. 61
152578 1978
166
Sea-blue histiocyte syndrome with bone anomalies. 61
757536 1978
167
Catabolic disorders of complex carbohydrates. 61
411121 1977
168
Mannosidosis in three brothers--a review of the literature. 61
875720 1977
169
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. 61
610425 1977
170
Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB. 61
416714 1977
171
Radiographic features of fucosidosis. 61
122443 1977
172
Proceedings: Dysostosis multiplex syndrome. 61
402677 1977
173
Clinical manifestations of mannosidosis--a longitudinal study. 61
1008071 1976
174
Atypical Hurler syndrome without alpha-L-iduronidase deficiency. 61
136068 1976
175
Mannosidosis: phenotype of a severely affected child and characterization of alpha-mannosidase activity in cultured fibroblasts from the patient and his parents. 61
5584 1976
176
The radiographic features of mannosidosis. 61
1265271 1976
177
Clinical and biochemical expression of a unique mucopolysaccharidosis. 61
131013 1976
178
Fucosidosis type 2. 61
814528 1976
179
The Morquio syndrome (mucopolysaccharidosis IV): Morphologic and biochemical studies. 61
810613 1975
180
Roentgenographic findings in fucosidosis type 2. 61
167599 1975
181
[Case of dysostosis multiplex with features of mucolipidosis II (I-cell disease)]. 61
4374690 1974
182
An early case of Hurler's syndrome (Hunter-Hurler-Pfaundler syndrome, mucopolysaccharidosis I, dysostosis multiplex): report of a case. 61
4625583 1972
183
"Dysostosis multiplex" without mucopolysacchariduria. 61
4252910 1971
184
[On dysostosis multiplex]. 61
13773551 1960
185
[Hurler's disease: gargoylism, dysostosis multiplex]. 61
13568894 1958
186
Gargoylism (Hurler's syndrome; lipochondrodystrophy dysostosis multiplex); report of two cases in Negroid children. 61
13502827 1958
187
[Pfaundler-Hurler disease with report of a case of dysostosis multiplex with special peculiarities]. 61
13483025 1957
188
[Further contribution to dysostosis multiplex]. 61
14394566 1955
189
[Radiological diagnosis of polytopic enchondral ossification disorders, especially of dysostosis multiplex Pfaundler-Hurler, chondromatosis and chondroangiopathia calcarea]. 61
13151274 1954
190
[Contribution to the study of a rare syndrome: gargoylism or lipochondrodystrophy or dysostosis multiplex]. 61
13119562 1953
191
[Endochondral dysostosis multiplex with blood protein disorders and decreased osteoblast activity]. 61
13095878 1953
192
[Eye changes in Pfaundler-Hurler's disease (dysostosis multiplex)]. 61
13067750 1953
193
[Observations of a combination of subchondral disturbances of the ossification of cartilage, Marfan syndrome and dysostosis multiplex]. 61
13060457 1953
194
[The Hurler-Pfaundler syndrome, gangolism, dysostosis multiplex, lipochondrodystrophy]. 61
13074626 1953
195
[Pfaundler-Hurler's disease; dysostosis multiplex]. 61
13062518 1953
196
Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy) prenatal and neonatal bone lesions and their early postnatal evolution. 61
14914945 1952
197
Gargoylism (dysostosis multiplex): two adult cases with one autopsy. 61
14895058 1952
198
[Clinical and clinic-chemical investigations in dysostosis multiplex (morbus Pfaundler-Hurler)]. 61
12986773 1952
199
Gargoylism (Hunter-Hurler disease, dysostosis multiplex, lipochondrodystrophy); prenatal and neonatal bone lesions and their early postnatal evolution. 61
14905097 1951
200
[On dysostosis multiplex (Pfaundler-Hurler's diseases) with dysplasia of Bowman's membrane]. 61
14837008 1951
201
[Dysostosis enchondralis, Pfaundler-Hurler type (dysostosis multiplex), with special reference to early cases]. 61
14818302 1951
202
Dysostosis multiplex: Pfaundler-Hurler syndrome. 61
21032147 1939

Variations for Lysosomal Storage Disease with Skeletal Involvement

ClinVar genetic disease variations for Lysosomal Storage Disease with Skeletal Involvement:

6 (showing 161, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IDUA NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)SNV Benign/Likely benign, other 195038 rs58037052 4:981673-981673 4:987885-987885
2 IDUA NM_000203.5(IDUA):c.965T>A (p.Val322Glu)SNV Likely benign, other 222992 rs76722191 4:995942-995942 4:1002154-1002154
3 IDUA NM_000203.5(IDUA):c.246C>G (p.His82Gln)SNV Benign/Likely benign, other 92637 rs148775298 4:981684-981684 4:987896-987896
4 IDUA NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)SNV Pathogenic 193061 rs794726877 4:981024-981024 4:987236-987236
5 IDUA NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)SNV Pathogenic 100723 rs587779401 4:998093-998093 4:1004305-1004305
6 IDUA NM_000203.5(IDUA):c.1402+2T>GSNV Pathogenic 553131 rs1553917428 4:996734-996734 4:1002946-1002946
7 IDUA NM_000203.5(IDUA):c.1728-1G>CSNV Pathogenic 556064 rs1249951282 4:997799-997799 4:1004011-1004011
8 IDUA NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)SNV Pathogenic 552095 rs1340421020 4:996540-996540 4:1002752-1002752
9 IDUA NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)SNV Pathogenic 550799 rs762903007 4:996223-996223 4:1002435-1002435
10 IDUA NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)SNV Pathogenic 552333 rs1033313360 4:995483-995483 4:1001695-1001695
11 IDUA NM_000203.5(IDUA):c.385+1G>CSNV Pathogenic 551966 rs780615798 4:994486-994486 4:1000698-1000698
12 IDUA NM_000203.5(IDUA):c.494-1G>ASNV Pathogenic 557942 rs794727701 4:995255-995255 4:1001467-1001467
13 IDUA NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)SNV Pathogenic 556406 rs886043347 4:998117-998117 4:1004329-1004329
14 IDUA NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)SNV Pathogenic 554826 rs746936485 4:998073-998073 4:1004285-1004285
15 IDUA NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)SNV Pathogenic 222993 rs758452450 4:981661-981661 4:987873-987873
16 IDUA NM_000203.5(IDUA):c.386-2A>GSNV Pathogenic 222994 rs777295041 4:994668-994668 4:1000880-1000880
17 IDUA NM_000203.5(IDUA):c.590-7G>ASNV Pathogenic 222996 rs762411583 4:995460-995460 4:1001672-1001672
18 IDUA NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)SNV Pathogenic 222995 rs869025584 4:995530-995530 4:1001742-1001742
19 IDUA NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)duplication Pathogenic 226413 rs875989947 4:995489-995492 4:1001701-1001704
20 IDUA NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)SNV Pathogenic 280976 rs121965031 4:998074-998074 4:1004286-1004286
21 IDUA NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)SNV Pathogenic 11927 rs121965033 4:996121-996121 4:1002333-1002333
22 IDUA NM_000203.5(IDUA):c.1614del (p.His539fs)deletion Pathogenic 167191 rs727503967 4:997222-997222 4:1003434-1003434
23 IDUA IDUA, 1-BP DEL, 1702Gdeletion Pathogenic 11912
24 IDUA NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)SNV Pathogenic 11914 rs121965022 4:981630-981630 4:987842-987842
25 IDUA NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)SNV Pathogenic 11915 rs121965023 4:995905-995905 4:1002117-1002117
26 IDUA NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)SNV Pathogenic 11916 rs121965024 4:996180-996180 4:1002392-1002392
27 IDUA NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)SNV Pathogenic 11917 rs121965025 4:998080-998080 4:1004292-1004292
28 IDUA NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)SNV Pathogenic 11919 rs121965027 4:996890-996890 4:1003102-1003102
29 IDUA NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)duplication Pathogenic 11921 rs786200915 4:995490-995494 4:1001702-1001706
30 IDUA NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)SNV Pathogenic 11922 rs121965029 4:981704-981704 4:987916-987916
31 IDUA NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)SNV Pathogenic 11908 rs121965019 4:996535-996535 4:1002747-1002747
32 IDUA NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)SNV Pathogenic 11909 rs121965020 4:981646-981646 4:987858-987858
33 IDUA NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)SNV Pathogenic 11910 rs121965021 4:997206-997206 4:1003418-1003418
34 IDUA NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)SNV Pathogenic 555230 rs991612107 4:996536-996536 4:1002748-1002748
35 IDUA NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)SNV Pathogenic 550421 rs756572099 4:998101-998101 4:1004313-1004313
36 IDUA NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)SNV Pathogenic 550883 rs776787370 4:997815-997815 4:1004027-1004027
37 IDUA NM_000203.5(IDUA):c.1A>C (p.Met1Leu)SNV Pathogenic 550458 rs1553914737 4:980873-980873 4:987085-987085
38 IDUA NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)SNV Pathogenic/Likely pathogenic 167190 rs199801029 4:996063-996063 4:1002275-1002275
39 IDUA NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)deletion Pathogenic/Likely pathogenic 195040 rs794727240 4:981629-981630 4:987841-987842
40 IDUA NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)SNV Pathogenic/Likely pathogenic 557870 rs746766617 4:996128-996128 4:1002340-1002340
41 IDUA NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)duplication Pathogenic/Likely pathogenic 550382 rs779762183 4:995851-995851 4:1002067-1002078
42 IDUA NM_000203.5(IDUA):c.299+1G>TSNV Pathogenic/Likely pathogenic 92639 rs398123259 4:981738-981738 4:987950-987950
43 IDUA NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)SNV Pathogenic/Likely pathogenic 496861 rs772416503 4:996908-996908 4:1003120-1003120
44 IDUA NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)SNV Pathogenic/Likely pathogenic 265418 rs148789453 4:995590-995590 4:1001802-1001802
45 IDUA NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)SNV Pathogenic/Likely pathogenic 193062 rs794726878 4:980925-980925 4:987137-987137
46 IDUA NM_000203.5(IDUA):c.1650+5G>ASNV Pathogenic/Likely pathogenic 92634 rs398123256 4:997263-997263 4:1003475-1003475
47 IDUA NM_000203.5(IDUA):c.159-1G>ASNV Likely pathogenic 556690 rs1553914935 4:981596-981596 4:987808-987808
48 IDUA NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)SNV Likely pathogenic 550474 rs764196171 4:996113-996113 4:1002325-1002325
49 IDUA NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)deletion Likely pathogenic 557885 rs1230096882 4:996126-996129 4:1002341-1002343
50 IDUA NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)SNV Likely pathogenic 556358 rs776098539 4:995298-995298 4:1001510-1001510
51 IDUA NM_000203.5(IDUA):c.493+1G>ASNV Likely pathogenic 558143 rs1553916957 4:994778-994778 4:1000990-1000990
52 IDUA NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)duplication Likely pathogenic 554471 rs761793564 4:996842-996842 4:1003055-1003056
53 IDUA NM_000203.5(IDUA):c.1402+1G>ASNV Likely pathogenic 555490 rs398123254 4:996733-996733 4:1002945-1002945
54 IDUA NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs)duplication Likely pathogenic 557537 rs1445719596 4:996604-996604 4:1002818-1002824
55 IDUA NM_000203.5(IDUA):c.1830_1831CA[1] (p.Thr611fs)short repeat Likely pathogenic 554576 rs1553917735 4:998047-998049 4:1004263-1004264
56 IDUA NM_000203.5(IDUA):c.1829-1G>ASNV Likely pathogenic 552823 rs745915863 4:998047-998047 4:1004259-1004259
57 IDUA NM_000203.5(IDUA):c.1829-2A>GSNV Likely pathogenic 555790 rs1553917733 4:998046-998046 4:1004258-1004258
58 IDUA NM_000203.5(IDUA):c.1650+1G>ASNV Likely pathogenic 554028 rs1434521185 4:997259-997259 4:1003471-1003471
59 IDUA NM_000203.5(IDUA):c.1867del (p.Leu623fs)deletion Likely pathogenic 552821 rs1553917747 4:998083-998084 4:1004298-1004298
60 IDUA NM_000203.5(IDUA):c.1897del (p.Ser633fs)deletion Likely pathogenic 553899 rs1553917756 4:998115-998116 4:1004328-1004328
61 IDUA NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs)deletion Likely pathogenic 553913 rs1553917746 4:998082-998107 4:1004299-1004323
62 IDUA NM_000203.5(IDUA):c.589+1G>ASNV Likely pathogenic 558079 rs1293215555 4:995352-995352 4:1001564-1001564
63 IDUA NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)duplication Likely pathogenic 554373 rs1553916950 4:994771-994771 4:1000984-1000984
64 IDUA NM_000203.5(IDUA):c.1148G>A (p.Arg383His)SNV Likely pathogenic 558189 rs754949360 4:996232-996232 4:1002444-1002444
65 IDUA NM_000203.5(IDUA):c.300-1G>ASNV Likely pathogenic 557332 rs1553916890 4:994399-994399 4:1000611-1000611
66 IDUA NM_000203.5(IDUA):c.793-1G>ASNV Likely pathogenic 557472 rs762779421 4:995769-995769 4:1001981-1001981
67 IDUA NM_000203.5(IDUA):c.542dup (p.Asn181fs)duplication Likely pathogenic 558477 rs1553917044 4:995302-995302 4:1001516-1001516
68 IDUA NM_000203.5(IDUA):c.1190-2A>TSNV Likely pathogenic 556504 rs994902207 4:996518-996518 4:1002730-1002730
69 IDUA NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)SNV Likely pathogenic 554590 rs1430681871 4:995500-995500 4:1001712-1001712
70 IDUA NM_000203.5(IDUA):c.523T>C (p.Trp175Arg)SNV Likely pathogenic 226412 rs875989946 4:995285-995285 4:1001497-1001497
71 IDUA NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs)deletion Likely pathogenic 556253 rs1553917737 4:998063-998065 4:1004276-1004277
72 IDUA NM_000203.5(IDUA):c.1828+1G>CSNV Likely pathogenic 556527 rs919151683 4:997901-997901 4:1004113-1004113
73 IDUA NM_000203.5(IDUA):c.1650+2C>GSNV Likely pathogenic 556588 rs1553917580 4:997260-997260 4:1003472-1003472
74 IDUA NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)SNV Likely pathogenic 553227 rs1553917192 4:995797-995797 4:1002009-1002009
75 IDUA NM_000203.5(IDUA):c.1602del (p.Leu535fs)deletion Likely pathogenic 552506 rs1553917566 4:997209-997210 4:1003422-1003422
76 IDUA NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)SNV Likely pathogenic 496834 rs794727896 4:996247-996247 4:1002459-1002459
77 IDUA NM_000203.5(IDUA):c.3G>A (p.Met1Ile)SNV Likely pathogenic 557150 rs1553914740 4:980875-980875 4:987087-987087
78 IDUA NM_000203.5(IDUA):c.1728-2A>GSNV Likely pathogenic 557744 rs1553917699 4:997798-997798 4:1004010-1004010
79 IDUA NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu)SNV Likely pathogenic 551675 rs772416503 4:996908-996908 4:1003120-1003120
80 IDUA NM_000203.5(IDUA):c.1524+1G>TSNV Likely pathogenic 555169 rs1553917483 4:996946-996946 4:1003158-1003158
81 IDUA NM_000203.5(IDUA):c.1591del (p.Arg531fs)deletion Likely pathogenic 556184 rs1553917558 4:997198-997199 4:1003411-1003411
82 IDUA NM_000203.5(IDUA):c.390del (p.Phe130fs)deletion Likely pathogenic 623139 rs1560545883 4:994674-994674 4:1000886-1000886
83 IDUA NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)indel Likely pathogenic 553915 rs1553914762 4:980931-980933 4:987144-987145
84 IDUA NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)SNV Conflicting interpretations of pathogenicity 198696 rs794727896 4:996247-996247 4:1002459-1002459
85 IDUA NM_000203.5(IDUA):c.245A>C (p.His82Pro)SNV Conflicting interpretations of pathogenicity 195039 rs794727239 4:981683-981683 4:987895-987895
86 IDUA NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)SNV Conflicting interpretations of pathogenicity 92627 rs11934801 4:996555-996555 4:1002767-1002767
87 IDUA , SLC26A1 NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)SNV Uncertain significance 64576 rs370442463 4:981637-981637 4:987849-987849
88 IDUA NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)SNV Uncertain significance 11923 rs121965030 4:995875-995875 4:1002087-1002087
89 IDUA NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)SNV Uncertain significance 11924 rs121965031 4:998074-998074 4:1004286-1004286
90 IDUA NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)SNV Uncertain significance 281005 rs777698606 4:981737-981737 4:987949-987949
91 IDUA NM_000203.5(IDUA):c.1728-9C>TSNV Uncertain significance 350232 rs374775605 4:997791-997791 4:1004003-1004003
92 IDUA NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)deletion Uncertain significance 556156 rs1450080299 4:996574-996601 4:1002791-1002817
93 IDUA NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)SNV Uncertain significance 502243 rs752337969 4:995900-995900 4:1002112-1002112
94 IDUA NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)deletion Uncertain significance 554156 rs1553917455 4:996844-996847 4:1003057-1003059
95 IDUA NM_000203.5(IDUA):c.1189+5G>ASNV Uncertain significance 551848 rs1553917318 4:996278-996278 4:1002490-1002490
96 IDUA NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)SNV Uncertain significance 558615 rs794727896 4:996247-996247 4:1002459-1002459
97 IDUA NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)SNV Uncertain significance 554213 rs546933529 4:995634-995634 4:1001846-1001846
98 IDUA NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)deletion Uncertain significance 554380 rs1553917418 4:996694-996718 4:1002908-1002931
99 IDUA NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)duplication Uncertain significance 551861 rs764105238 4:995515-995515 4:1001729-1001731
100 IDUA NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)SNV Uncertain significance 557616 rs1465083754 4:996556-996556 4:1002768-1002768
101 IDUA NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)duplication Uncertain significance 558316 rs1553917216 4:995862-995862 4:1002075-1002083
102 IDUA NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)SNV Uncertain significance 556106 rs1553917310 4:996244-996244 4:1002456-1002456
103 IDUA NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)SNV Uncertain significance 556024 rs1553917309 4:996238-996238 4:1002450-1002450
104 IDUA NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)SNV Uncertain significance 557205 rs750496798 4:996171-996171 4:1002383-1002383
105 IDUA NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)deletion Uncertain significance 557260 rs1214495121 4:996153-996174 4:1002369-1002389
106 IDUA NM_000203.5(IDUA):c.1727+4C>TSNV Uncertain significance 554593 rs1202966289 4:997417-997417 4:1003629-1003629
107 IDUA NM_000203.5(IDUA):c.1708G>C (p.Asp570His)SNV Uncertain significance 551300 rs1553917627 4:997394-997394 4:1003606-1003606
108 IDUA NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)deletion Uncertain significance 553372 rs1553917253 4:996058-996064 4:1002271-1002276
109 IDUA NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)duplication Uncertain significance 557528 rs760582777 4:995508-995508 4:1001726-1001734
110 IDUA NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)SNV Uncertain significance 550605 rs201268637 4:995664-995664 4:1001876-1001876
111 IDUA NM_000203.5(IDUA):c.739_741TTC[1] (p.Phe248del)short repeat Uncertain significance 551938 rs764800004 4:995614-995617 4:1001831-1001833
112 IDUA NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)SNV Uncertain significance 554670 rs770087890 4:995467-995467 4:1001679-1001679
113 IDUA NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)SNV Uncertain significance 550594 rs1553916949 4:994769-994769 4:1000981-1000981
114 IDUA NM_000203.5(IDUA):c.300-3C>GSNV Uncertain significance 551563 rs1226056948 4:994397-994397 4:1000609-1000609
115 IDUA NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)deletion Uncertain significance 552124 rs1553914780 4:980940-980949 4:987153-987161
116 IDUA NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)SNV Uncertain significance 553029 rs1001972534 4:980936-980936 4:987148-987148
117 IDUA NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)SNV Uncertain significance 558359 rs1553917764 4:998137-998137 4:1004349-1004349
118 IDUA NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)SNV Uncertain significance 554668 rs768467230 4:998133-998133 4:1004345-1004345
119 IDUA NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)SNV Uncertain significance 554765 rs1553917304 4:996199-996199 4:1002411-1002411
120 IDUA NM_000203.5(IDUA):c.973-4G>ASNV Uncertain significance 558027 rs745832717 4:996053-996053 4:1002265-1002265
121 IDUA NM_000203.5(IDUA):c.946G>A (p.Val316Met)SNV Uncertain significance 550272 rs755445369 4:995923-995923 4:1002135-1002135
122 IDUA NM_000203.5(IDUA):c.601_603TAC[3] (p.Tyr202dup)short repeat Uncertain significance 556314 rs1553917091 4:995475-995475 4:1001693-1001695
123 IDUA NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)SNV Uncertain significance 551348 rs1238128027 4:995310-995310 4:1001522-1001522
124 IDUA NM_000203.5(IDUA):c.399G>C (p.Met133Ile)SNV Uncertain significance 552254 rs558683362 4:994683-994683 4:1000895-1000895
125 IDUA NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)SNV Uncertain significance 554280 rs1421520718 4:981028-981028 4:987240-987240
126 IDUA NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup)duplication Uncertain significance 553106 rs1553914754 4:980905-980905 4:987118-987129
127 IDUA NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)SNV Uncertain significance 552686 rs780165694 4:981665-981665 4:987877-987877
128 IDUA NM_000203.5(IDUA):c.299+1212deldeletion Uncertain significance 555513 rs1553915188 4:982948-982949 4:989161-989161
129 IDUA NM_000203.5(IDUA):c.299+3602deldeletion Likely benign 557950 rs1553915784 4:985337-985338 4:991551-991551
130 IDUA NM_000203.5(IDUA):c.299+3420deldeletion Likely benign 552344 rs1553915711 4:985156-985157 4:991369-991369
131 IDUA NM_000203.5(IDUA):c.299+1506deldeletion Likely benign 556616 rs1553915253 4:983242-983243 4:989455-989455
132 IDUA NM_000203.5(IDUA):c.299+1235_299+1261deldeletion Likely benign 554473 rs1553915189 4:982968-982995 4:989184-989210
133 IDUA NM_000203.5(IDUA):c.299+3617deldeletion Likely benign 552147 rs1553915793 4:985352-985353 4:991566-991566
134 IDUA NM_000203.5(IDUA):c.299+3444_299+3445deldeletion Likely benign 557622 rs758100654 4:985180-985182 4:991393-991394
135 IDUA NM_000203.5(IDUA):c.299+3360A>GSNV Likely benign 553641 rs760075470 4:985097-985097 4:991309-991309
136 IDUA NM_000203.5(IDUA):c.299+1638deldeletion Likely benign 551870 rs768949918 4:983369-983370 4:989587-989587
137 IDUA NM_000203.5(IDUA):c.299+1414_299+1415delshort repeat Likely benign 554794 rs1553915228 4:983148-983150 4:989363-989364
138 IDUA NM_000203.5(IDUA):c.299+1313deldeletion Likely benign 551515 rs778770773 4:983049-983050 4:989262-989262
139 IDUA NM_000203.5(IDUA):c.299+1127deldeletion Likely benign 553040 rs1553915173 4:982862-982863 4:989076-989076
140 IDUA NM_000203.5(IDUA):c.299+1089deldeletion Likely benign 555367 rs1553915155 4:982825-982826 4:989038-989038
141 IDUA NM_000203.5(IDUA):c.299+1238deldeletion Likely benign 552126 rs1553915192 4:982972-982973 4:989187-989187
142 IDUA NM_000203.5(IDUA):c.299+1087G>ASNV Likely benign 555979 rs1162410484 4:982824-982824 4:989036-989036
143 IDUA NM_000203.5(IDUA):c.299+3446A>TSNV Likely benign 551058 rs1553915726 4:985183-985183 4:991395-991395
144 IDUA NM_000203.5(IDUA):c.299+1362_299+1363deldeletion Likely benign 551085 rs1265696919 4:983094-983096 4:989311-989312
145 IDUA NM_000203.5(IDUA):c.299+3566G>TSNV Likely benign 555908 rs941971930 4:985303-985303 4:991515-991515
146 IDUA NM_000203.5(IDUA):c.299+3455G>TSNV Likely benign 552694 rs752252231 4:985192-985192 4:991404-991404
147 IDUA NM_000203.5(IDUA):c.1083G>A (p.Ala361=)SNV Likely benign 550409 rs1553917295 4:996167-996167 4:1002379-1002379
148 IDUA NM_000203.5(IDUA):c.1161C>T (p.Leu387=)SNV Likely benign 558614 rs1553917312 4:996245-996245 4:1002457-1002457
149 IDUA NM_000203.5(IDUA):c.299+1255deldeletion Likely benign 550680 rs1372086275 4:982991-982992 4:989204-989204
150 IDUA NM_000203.5(IDUA):c.299+1225G>ASNV Likely benign 555941 rs200798328 4:982962-982962 4:989174-989174
151 IDUA NM_000203.5(IDUA):c.299+1078deldeletion Likely benign 557175 rs1553915149 4:982811-982812 4:989027-989027
152 IDUA NM_000203.5(IDUA):c.299+1363dupduplication Likely benign 554838 rs1265696919 4:983094-983094 4:989312-989312
153 IDUA NM_000203.5(IDUA):c.299+3410_299+3424dupduplication Likely benign 556223 rs778682733 4:985146-985146 4:991359-991373
154 IDUA NM_000203.5(IDUA):c.299+3410deldeletion Likely benign 551664 rs756881822 4:985144-985145 4:991359-991359
155 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+1627G>ASNV Likely benign 64578 rs387907483 4:983364-983364 4:989576-989576
156 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+1542A>TSNV Likely benign 64580 rs387907487 4:983279-983279 4:989491-989491
157 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+1279C>TSNV Likely benign 64586 rs387907481 4:983016-983016 4:989228-989228
158 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+1104G>ASNV Likely benign 64587 rs387907484 4:982841-982841 4:989053-989053
159 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+3399C>TSNV Likely benign 64590 rs368990025 4:985136-985136 4:991348-991348
160 IDUA , SLC26A1 NM_000203.5(IDUA):c.299+3322C>TSNV Likely benign 64591 rs387907486 4:985059-985059 4:991271-991271
161 IDUA NM_000203.5(IDUA):c.1962A>T (p.Ter654Cys)SNV no interpretation for the single variant 242721 rs199794428 4:998181-998181 4:1004393-1004393

Expression for Lysosomal Storage Disease with Skeletal Involvement

Search GEO for disease gene expression data for Lysosomal Storage Disease with Skeletal Involvement.

Pathways for Lysosomal Storage Disease with Skeletal Involvement

GO Terms for Lysosomal Storage Disease with Skeletal Involvement

Sources for Lysosomal Storage Disease with Skeletal Involvement

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