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MCID: LYS030
MIFTS: 28

Lysosomal Storage Disease with Skeletal Involvement

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Lysosomal Storage Disease with Skeletal Involvement

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MalaCards integrated aliases for Lysosomal Storage Disease with Skeletal Involvement:

Name: Lysosomal Storage Disease with Skeletal Involvement 59
Dysostosis Multiplex 59 29 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare bone diseases


External Ids:

Orphanet 59 ORPHA93448
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Summaries for Lysosomal Storage Disease with Skeletal Involvement

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

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Related Diseases for Lysosomal Storage Disease with Skeletal Involvement

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 scheie syndrome 11.8
2 mucopolysaccharidosis-plus syndrome 11.8
3 mucopolysaccharidosis, type vi 11.7
4 mucolipidosis ii alpha/beta 11.6
5 hurler syndrome 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 mucopolysaccharidosis, type iva 11.3
15 neuraminidase deficiency 11.3
16 multiple sulfatase deficiency 11.3
17 mucopolysaccharidosis iii 11.3
18 dysostosis 10.6
19 marfan syndrome 9.9
20 gm1-gangliosidosis, type i 9.9
21 mucolipidosis 9.9
22 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
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Symptoms & Phenotypes for Lysosomal Storage Disease with Skeletal Involvement

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UMLS symptoms related to Lysosomal Storage Disease with Skeletal Involvement:


joint stiffness
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Drugs & Therapeutics for Lysosomal Storage Disease with Skeletal Involvement

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Interventional clinical trials:


# 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

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Genetic Tests for Lysosomal Storage Disease with Skeletal Involvement

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Genetic tests related to Lysosomal Storage Disease with Skeletal Involvement:

# Genetic test Affiliating Genes
1 Dysostosis Multiplex 29 IDUA
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Anatomical Context for Lysosomal Storage Disease with Skeletal Involvement

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

41
Bone, Bone Marrow, Skin, Brain, Liver, Testes, Eye
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Publications for Lysosomal Storage Disease with Skeletal Involvement

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Articles related to Lysosomal Storage Disease with Skeletal Involvement:

(show top 50) (show all 203)
# 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. 38
31064022 2019
2
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. 38
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. 38
30755342 2019
4
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. 38
30740618 2019
5
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. 38
30653816 2019
6
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. 38
30658664 2019
7
Orthopaedic challenges for mucopolysaccharidoses. 38
30442173 2018
8
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 38
30235039 2018
9
Mucopolysaccharidoses: overview of neuroimaging manifestations. 38
29752520 2018
10
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition. 38
30094186 2018
11
Mucolipidosis type III, a series of adult patients. 38
29704188 2018
12
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 38
29654786 2018
13
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. 38
30023283 2018
14
Clinical features of Mexican patients with Mucopolysaccharidosis type I. 38
28973713 2017
15
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. 38
28649514 2017
16
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 38
28457718 2017
17
Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. 38
28292383 2017
18
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. 38
27785713 2017
19
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 38
27547915 2017
20
Early characteristic radiographic changes in mucolipidosis II. 38
27525427 2016
21
Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know. 38
27618324 2016
22
Sialidoses. 38
27621198 2016
23
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. 38
26789537 2016
24
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 38
26515723 2016
25
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. 38
26935461 2016
26
Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood. 38
29073299 2016
27
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. 38
26920906 2016
28
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. 38
26713028 2015
29
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. 38
25976201 2015
30
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). 38
25892708 2015
31
The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. 38
25987175 2015
32
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. 38
25214650 2015
33
Spinal involvement in mucopolysaccharidoses: a review. 38
25358811 2015
34
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 38
26108645 2015
35
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. 38
25599668 2015
36
Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I. 38
25359774 2014
37
Mucopolysaccharidosis type I. 38
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. 38
25044831 2014
39
Whole-exome sequencing expands the phenotype of Hunter syndrome. 38
23844659 2014
40
Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene. 38
25222778 2014
41
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. 38
25818965 2014
42
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. 38
24636010 2014
43
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 38
25190157 2014
44
Siblings with fucosidosis. 38
25250075 2014
45
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. 38
25100895 2014
46
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. 38
24389823 2014
47
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. 38
24056375 2013
48
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. 38
23685283 2013
49
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. 38
23665161 2013
50
Mucopolysaccharidosis type II with inguinal hernia. 38
24908534 2013
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Variations for Lysosomal Storage Disease with Skeletal Involvement

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

6 (show top 50) (show all 161)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IDUA NM_000203.5(IDUA): c.246C> G (p.His82Gln) single nucleotide variant Benign/Likely benign, other rs148775298 4:981684-981684 4:987896-987896
2 IDUA NM_000203.5(IDUA): c.235G> A (p.Ala79Thr) single nucleotide variant Benign/Likely benign, other rs58037052 4:981673-981673 4:987885-987885
3 IDUA NM_000203.5(IDUA): c.965T> A (p.Val322Glu) single nucleotide variant Likely benign, other rs76722191 4:995942-995942 4:1002154-1002154
4 IDUA NM_000203.5(IDUA): c.223G> A (p.Ala75Thr) single nucleotide variant Pathogenic rs758452450 4:981661-981661 4:987873-987873
5 IDUA NM_000203.5(IDUA): c.612_615dup (p.Ser206fs) duplication Pathogenic rs875989947 4:995489-995492 4:1001701-1001704
6 IDUA NM_000203.5(IDUA): c.1855C> T (p.Arg619Ter) single nucleotide variant Pathogenic rs121965031 4:998074-998074 4:1004286-1004286
7 IDUA NM_000203.5(IDUA): c.1614del (p.His539fs) deletion Pathogenic rs727503967 4:997222-997222 4:1003434-1003434
8 IDUA NM_000203.5(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 4:981024-981024 4:987236-987236
9 IDUA NM_000203.5(IDUA): c.386-2A> G single nucleotide variant Pathogenic rs777295041 4:994668-994668 4:1000880-1000880
10 IDUA NM_000203.5(IDUA): c.590-7G> A single nucleotide variant Pathogenic rs762411583 4:995460-995460 4:1001672-1001672
11 IDUA NM_000203.5(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 4:995530-995530 4:1001742-1001742
12 IDUA NM_000203.5(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 4:998093-998093 4:1004305-1004305
13 IDUA NM_000203.5(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 4:996121-996121 4:1002333-1002333
14 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
15 IDUA NM_000203.5(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 4:981630-981630 4:987842-987842
16 IDUA NM_000203.5(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 4:995905-995905 4:1002117-1002117
17 IDUA NM_000203.5(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 4:996180-996180 4:1002392-1002392
18 IDUA NM_000203.5(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 4:998080-998080 4:1004292-1004292
19 IDUA NM_000203.5(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 4:996890-996890 4:1003102-1003102
20 IDUA NM_000203.5(IDUA): c.613_617dup (p.Glu207fs) duplication Pathogenic rs786200915 4:995490-995494 4:1001702-1001706
21 IDUA NM_000203.5(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 4:981704-981704 4:987916-987916
22 IDUA NM_000203.5(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 4:996535-996535 4:1002747-1002747
23 IDUA NM_000203.5(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 4:981646-981646 4:987858-987858
24 IDUA NM_000203.5(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 4:997206-997206 4:1003418-1003418
25 IDUA NM_000203.5(IDUA): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs756572099 4:998101-998101 4:1004313-1004313
26 IDUA NM_000203.5(IDUA): c.1206G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs991612107 4:996536-996536 4:1002748-1002748
27 IDUA NM_000203.5(IDUA): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs1553914737 4:980873-980873 4:987085-987085
28 IDUA NM_000203.5(IDUA): c.1139A> G (p.Gln380Arg) single nucleotide variant Pathogenic rs762903007 4:996223-996223 4:1002435-1002435
29 IDUA NM_000203.5(IDUA): c.1210G> T (p.Glu404Ter) single nucleotide variant Pathogenic rs1340421020 4:996540-996540 4:1002752-1002752
30 IDUA NM_000203.5(IDUA): c.1728-1G> C single nucleotide variant Pathogenic rs1249951282 4:997799-997799 4:1004011-1004011
31 IDUA NM_000203.5(IDUA): c.1898C> T (p.Ser633Leu) single nucleotide variant Pathogenic rs886043347 4:998117-998117 4:1004329-1004329
32 IDUA NM_000203.5(IDUA): c.1402+2T> G single nucleotide variant Pathogenic rs1553917428 4:996734-996734 4:1002946-1002946
33 IDUA NM_000203.5(IDUA): c.1854C> A (p.Tyr618Ter) single nucleotide variant Pathogenic rs746936485 4:998073-998073 4:1004285-1004285
34 IDUA NM_000203.5(IDUA): c.494-1G> A single nucleotide variant Pathogenic rs794727701 4:995255-995255 4:1001467-1001467
35 IDUA NM_000203.5(IDUA): c.385+1G> C single nucleotide variant Pathogenic rs780615798 4:994486-994486 4:1000698-1000698
36 IDUA NM_000203.5(IDUA): c.606C> A (p.Tyr202Ter) single nucleotide variant Pathogenic rs1033313360 4:995483-995483 4:1001695-1001695
37 IDUA NM_000203.5(IDUA): c.1743C> G (p.Tyr581Ter) single nucleotide variant Pathogenic rs776787370 4:997815-997815 4:1004027-1004027
38 IDUA NM_000203.5(IDUA): c.1044C> G (p.Asn348Lys) single nucleotide variant Pathogenic/Likely pathogenic rs746766617 4:996128-996128 4:1002340-1002340
39 IDUA NM_000203.5(IDUA): c.878_889dup (p.Thr293_Tyr296dup) duplication Pathogenic/Likely pathogenic rs779762183 4:995851-995851 4:1002067-1002078
40 IDUA NM_000203.5(IDUA): c.1487C> G (p.Pro496Arg) single nucleotide variant Pathogenic/Likely pathogenic rs772416503 4:996908-996908 4:1003120-1003120
41 IDUA NM_000203.5(IDUA): c.1650+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs398123256 4:997263-997263 4:1003475-1003475
42 IDUA NM_000203.5(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic/Likely pathogenic rs199801029 4:996063-996063 4:1002275-1002275
43 IDUA NM_000203.5(IDUA): c.299+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs398123259 4:981738-981738 4:987950-987950
44 IDUA NM_000203.5(IDUA): c.191_192del (p.Tyr64fs) deletion Pathogenic/Likely pathogenic rs794727240 4:981629-981630 4:987841-987842
45 IDUA NM_000203.5(IDUA): c.53T> C (p.Leu18Pro) single nucleotide variant Pathogenic/Likely pathogenic rs794726878 4:980925-980925 4:987137-987137
46 IDUA NM_000203.5(IDUA): c.713T> A (p.Leu238Gln) single nucleotide variant Pathogenic/Likely pathogenic rs148789453 4:995590-995590 4:1001802-1001802
47 IDUA NM_000203.5(IDUA): c.523T> C (p.Trp175Arg) single nucleotide variant Likely pathogenic rs875989946 4:995285-995285 4:1001497-1001497
48 IDUA NM_000203.5(IDUA): c.390del (p.Phe130fs) deletion Likely pathogenic 4:994674-994674 4:1000886-1000886
49 IDUA NM_000203.5(IDUA): c.1487C> T (p.Pro496Leu) single nucleotide variant Likely pathogenic rs772416503 4:996908-996908 4:1003120-1003120
50 IDUA NM_000203.5(IDUA): c.1524+1G> T single nucleotide variant Likely pathogenic rs1553917483 4:996946-996946 4:1003158-1003158
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Expression for Lysosomal Storage Disease with Skeletal Involvement

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

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GO Terms for Lysosomal Storage Disease with Skeletal Involvement

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Sources for Lysosomal Storage Disease with Skeletal Involvement

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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