Lysosomal Storage Disease with Skeletal Involvement

MalaCards integrated aliases for Lysosomal Storage Disease with Skeletal Involvement:

Dysostosis Multiplex 58

Classifications:

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

(show all 23)

#	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

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

Articles related to Lysosomal Storage Disease with Skeletal Involvement:

(show top 50) (show all 202)

#	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	Wali G...Kumar KR	31064022	2019
2	Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. 61	Aminzadeh M...Ghandil P	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	Yamazaki N...Okuyama T	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	Guffon N...Chevallier B	30740618	2019
5	Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. 61	Kantaputra PN...Tanpaiboon P	30653816	2019
6	Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. 61	Kuiper GA...Wijburg FA	30658664	2019
7	Orthopaedic challenges for mucopolysaccharidoses. 61	Borgo A...Carbone M	30442173	2018
8	Mucopolysaccharidoses: overview of neuroimaging manifestations. 61	Nicolas-Jilwan M...AlSayed M	29752520	2018
9	Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition. 61	Bleier M...University of British Columbia	30094186	2018
10	Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61	Khan MA...Naeem M	30235039	2018
11	Mucolipidosis type III, a series of adult patients. 61	Oussoren E...Langeveld M	29704188	2018
12	Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 61	Kang E...Lee BH	29654786	2018
13	Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. 61	Mohammad AN...Atwal PS	30023283	2018
14	Clinical features of Mexican patients with Mucopolysaccharidosis type I. 61	Alonzo-Rojo A...Figuera-Villanueva LE	28973713	2017
15	Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. 61	Barth AL...Horovitz DDG	28649514	2017
16	The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). 61	Harmatz P...MPS VI Study Group	28457718	2017
17	Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. 61	Cheema HA...Shahzadi N	28292383	2017
18	I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. 61	Singh A...Mishra OP	27785713	2017
19	A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 61	Dursun A...Ozgul RK	27547915	2017
20	Early characteristic radiographic changes in mucolipidosis II. 61	Lai LM...Lachman RS	27525427	2016
21	Sialidoses. 61	Franceschetti S...Canafoglia L	27621198	2016
22	Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know. 61	Reichert R...Vedolin LM	27618324	2016
23	Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. 61	Shibazaki T...Koike K	26789537	2016
24	MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 61	Ediz SS...Alkan A	26515723	2016
25	Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. 61	Langereis EJ...Wijburg FA	26935461	2016
26	Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood. 61	Gholamrezanezhad A...Robbin M	29073299	2016
27	Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. 61	Pineda M...Garcia-Fructuoso G	26920906	2016
28	Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. 61	Zubarioglu T...Yalcinkaya C	26713028	2015
29	Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). 61	Choy YS...McGill J	25892708	2015
30	Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. 61	Gupta A...Girisha KM	25976201	2015
31	The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. 61	Clarke LA...Hollak CE	25987175	2015
32	Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. 61	Arn P...Fallet S	25214650	2015
33	Spinal involvement in mucopolysaccharidoses: a review. 61	Leone A...Colosimo C	25358811	2015
34	Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 61	Kannebley JS...Steiner CE	26108645	2015
35	Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. 61	Johnson BA...Bodamer OA	25599668	2015
36	Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I. 61	Watson HA...Bigger BW	25359774	2014
37	Mucopolysaccharidosis type I. 61	Wraith JE...Jones S	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	Nampoothiri S...Superti-Furga A	25044831	2014
39	Whole-exome sequencing expands the phenotype of Hunter syndrome. 61	Nikkel SM...FORGE Canada Consortium	23844659	2014
40	Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene. 61	Kotecha UH...Verma IC	25222778	2014
41	Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. 61	Gautschi M...Fluss J	24636010	2014
42	A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. 61	Kilic E...Alanay Y	25818965	2014
43	[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 61	Zheng J...Liu L	25190157	2014
44	Siblings with fucosidosis. 61	Muthusamy K...Benjamin RN	25250075	2014
45	Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. 61	Pachajoa H...Rodriguez CA	25100895	2014
46	Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. 61	Lachman RS...White KK	24389823	2014
47	Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. 61	Annibali R...Ficcadenti A	24056375	2013
48	Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. 61	Hendriksz CJ...Tomatsu S	23665161	2013
49	A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. 61	AlBakheet A...Al-Sayed M	23685283	2013
50	Mucopolysaccharidosis type II with inguinal hernia. 61	Rayamajhi A...Rayamajhi AK	24908534	2013

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IDUA	Alpha-L-Iduronidase	Protein Coding	400	Pathogenic 6 Pathogenic/Likely pathogenic 6

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

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#	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>G	SNV	Pathogenic	553131	rs1553917428	4:996734-996734	4:1002946-1002946
7	IDUA	NM_000203.5(IDUA):c.1728-1G>C	SNV	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>C	SNV	Pathogenic	551966	rs780615798	4:994486-994486	4:1000698-1000698
12	IDUA	NM_000203.5(IDUA):c.494-1G>A	SNV	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>G	SNV	Pathogenic	222994	rs777295041	4:994668-994668	4:1000880-1000880
17	IDUA	NM_000203.5(IDUA):c.590-7G>A	SNV	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, 1702G	deletion	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>T	SNV	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>A	SNV	Pathogenic/Likely pathogenic	92634	rs398123256	4:997263-997263	4:1003475-1003475
47	IDUA	NM_000203.5(IDUA):c.159-1G>A	SNV	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