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 27)

#	Related Disease	Score	Top Affiliating Genes
1	hurler syndrome	12.3
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	ataxia and polyneuropathy, adult-onset	9.9
23	odontoid hypoplasia	9.9
24	mucolipidosis	9.9
25	dystonia	9.9
26	blood protein disease	9.9
27	spasticity	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	Active, not recruiting	NCT02298712
3	Biomarker for Mucolipidosis Disorder Type I, II, III, IV AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Active, not recruiting	NCT02298673
4	Biomarker for Gangliosidosis: BioGM1 / BioGM2 AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Active, not recruiting	NCT02298647

Articles related to Lysosomal Storage Disease with Skeletal Involvement:

(show top 50) (show all 206)

#	Title	Authors	PMID	Year
1	Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family. 61	Khan MA...Naeem M	32238606	2020
2	A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months. 61	Nakamura-Utsunomiya A...Okada S	32024277	2020
3	Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene. 61	Mosallanejad A...Saneifard H	32256629	2020
4	Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex. 61	Abumansour IS...Stockler-Ipsiroglu S	32071837	2020
5	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
6	Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. 61	Aminzadeh M...Ghandil P	31009684	2019
7	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
8	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
9	Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. 61	Kantaputra PN...Tanpaiboon P	30653816	2019
10	Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. 61	Kuiper GA...Wijburg FA	30658664	2019
11	Orthopaedic challenges for mucopolysaccharidoses. 61	Borgo A...Carbone M	30442173	2018
12	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
13	Mucopolysaccharidoses: overview of neuroimaging manifestations. 61	Nicolas-Jilwan M...AlSayed M	29752520	2018
14	Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing. 61	Khan MA...Naeem M	30235039	2018
15	Mucolipidosis type III, a series of adult patients. 61	Oussoren E...Langeveld M	29704188	2018
16	Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. 61	Kang E...Lee BH	29654786	2018
17	Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement. 61	Mohammad AN...Atwal PS	30023283	2018
18	Clinical features of Mexican patients with Mucopolysaccharidosis type I. 61	Alonzo-Rojo A...Figuera-Villanueva LE	28973713	2017
19	Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up. 61	Barth AL...Horovitz DDG	28649514	2017
20	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
21	Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types. 61	Cheema HA...Shahzadi N	28292383	2017
22	I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis. 61	Singh A...Mishra OP	27785713	2017
23	A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 61	Dursun A...Ozgul RK	27547915	2017
24	Early characteristic radiographic changes in mucolipidosis II. 61	Lai LM...Lachman RS	27525427	2016
25	Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know. 61	Reichert R...Vedolin LM	27618324	2016
26	Sialidoses. 61	Franceschetti S...Canafoglia L	27621198	2016
27	Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta. 61	Shibazaki T...Koike K	26789537	2016
28	MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. 61	Ediz SS...Alkan A	26515723	2016
29	Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation. 61	Langereis EJ...Wijburg FA	26935461	2016
30	Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome. 61	Pineda M...Garcia-Fructuoso G	26920906	2016
31	Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood. 61	Gholamrezanezhad A...Robbin M	29073299	2016
32	Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation. 61	Zubarioglu T...Yalcinkaya C	26713028	2015
33	Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. 61	Gupta A...Girisha KM	25976201	2015
34	Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI). 61	Choy YS...McGill J	25892708	2015
35	The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders. 61	Clarke LA...Hollak CE	25987175	2015
36	Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I. 61	Arn P...Fallet S	25214650	2015
37	Spinal involvement in mucopolysaccharidoses: a review. 61	Leone A...Colosimo C	25358811	2015
38	Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. 61	Johnson BA...Bodamer OA	25599668	2015
39	Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 61	Kannebley JS...Steiner CE	26108645	2015
40	Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I. 61	Watson HA...Bigger BW	25359774	2014
41	Mucopolysaccharidosis type I. 61	Wraith JE...Jones S	25345091	2014
42	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
43	Whole-exome sequencing expands the phenotype of Hunter syndrome. 61	Nikkel SM...FORGE Canada Consortium	23844659	2014
44	Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene. 61	Kotecha UH...Verma IC	25222778	2014
45	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
46	A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings. 61	Kilic E...Alanay Y	25818965	2014
47	[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]. 61	Zheng J...Liu L	25190157	2014
48	Siblings with fucosidosis. 61	Muthusamy K...Benjamin RN	25250075	2014
49	Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia. 61	Pachajoa H...Rodriguez CA	25100895	2014
50	Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. 61	Lachman RS...White KK	24389823	2014

#	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	Benign/Likely benign, other	222992	rs76722191	4:995942-995942	4:1002154-1002154
3	IDUA	NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	SNV	Pathogenic	222997	rs764196171	4:996113-996113	4:1002325-1002325
4	IDUA	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	SNV	Pathogenic	222993	rs758452450	4:981661-981661	4:987873-987873
5	IDUA	NM_000203.5(IDUA):c.386-2A>G	SNV	Pathogenic	222994	rs777295041	4:994668-994668	4:1000880-1000880
6	IDUA	NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	SNV	Pathogenic	222995	rs869025584	4:995530-995530	4:1001742-1001742
7	IDUA	NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)	duplication	Pathogenic	226413	rs875989947	4:995485-995486	4:1001697-1001698
8	IDUA	NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	SNV	Pathogenic	280976	rs121965031	4:998074-998074	4:1004286-1004286
9	IDUA	NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys)	SNV	Pathogenic	100723	rs587779401	4:998093-998093	4:1004305-1004305
10	IDUA	NM_000203.5(IDUA):c.1614del (p.His539fs)	deletion	Pathogenic	167191	rs727503967	4:997222-997222	4:1003434-1003434
11	IDUA	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	SNV	Pathogenic	193061	rs794726877	4:981024-981024	4:987236-987236
12	IDUA	IDUA, 1-BP DEL, 1702G	deletion	Pathogenic	11912
13	IDUA	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	SNV	Pathogenic	11914	rs121965022	4:981630-981630	4:987842-987842
14	IDUA	NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)	SNV	Pathogenic	11915	rs121965023	4:995905-995905	4:1002117-1002117
15	IDUA	NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)	SNV	Pathogenic	11916	rs121965024	4:996180-996180	4:1002392-1002392
16	IDUA	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	SNV	Pathogenic	11917	rs121965025	4:998080-998080	4:1004292-1004292
17	IDUA	NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	SNV	Pathogenic	11919	rs121965027	4:996890-996890	4:1003102-1003102
18	IDUA	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	duplication	Pathogenic	11921	rs786200915	4:995488-995489	4:1001700-1001701
19	IDUA	NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	SNV	Pathogenic	11922	rs121965029	4:981704-981704	4:987916-987916
20	IDUA	NM_000203.5(IDUA):c.1163del (p.Thr388fs)	deletion	Pathogenic	828094		4:996247-996247	4:1002459-1002459
21	IDUA	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	SNV	Pathogenic	11908	rs121965019	4:996535-996535	4:1002747-1002747
22	IDUA , SLC26A1	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	SNV	Pathogenic	11909	rs121965020	4:981646-981646	4:987858-987858
23	IDUA	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	SNV	Pathogenic	11910	rs121965021	4:997206-997206	4:1003418-1003418
24	IDUA	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	SNV	Pathogenic	11925	rs121965032	4:996175-996175	4:1002387-1002387
25	IDUA	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	SNV	Pathogenic	11927	rs121965033	4:996121-996121	4:1002333-1002333
26	IDUA	NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	SNV	Pathogenic	550421	rs756572099	4:998101-998101	4:1004313-1004313
27	IDUA	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	SNV	Pathogenic	555230	rs991612107	4:996536-996536	4:1002748-1002748
28	IDUA	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	SNV	Pathogenic	550458	rs1553914737	4:980873-980873	4:987085-987085
29	IDUA	NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	SNV	Pathogenic	550799	rs762903007	4:996223-996223	4:1002435-1002435
30	IDUA	NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter)	SNV	Pathogenic	552095	rs1340421020	4:996540-996540	4:1002752-1002752
31	IDUA	NM_000203.5(IDUA):c.1728-1G>C	SNV	Pathogenic	556064	rs1249951282	4:997799-997799	4:1004011-1004011
32	IDUA	NM_000203.5(IDUA):c.494-1G>A	SNV	Pathogenic	557942	rs794727701	4:995255-995255	4:1001467-1001467
33	IDUA	NM_000203.5(IDUA):c.1402+2T>G	SNV	Pathogenic	553131	rs1553917428	4:996734-996734	4:1002946-1002946
34	IDUA	NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter)	SNV	Pathogenic	554826	rs746936485	4:998073-998073	4:1004285-1004285
35	IDUA	NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	SNV	Pathogenic	556406	rs886043347	4:998117-998117	4:1004329-1004329
36	IDUA	NM_000203.5(IDUA):c.385+1G>C	SNV	Pathogenic	551966	rs780615798	4:994486-994486	4:1000698-1000698
37	IDUA	NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	SNV	Pathogenic	552333	rs1033313360	4:995483-995483	4:1001695-1001695
38	IDUA	NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)	SNV	Pathogenic	550883	rs776787370	4:997815-997815	4:1004027-1004027
39	IDUA	NM_000203.5(IDUA):c.793-1G>A	SNV	Pathogenic/Likely pathogenic	557472	rs762779421	4:995769-995769	4:1001981-1001981
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	4:995851-995852	4:1002063-1002064
42	IDUA	NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs)	duplication	Pathogenic/Likely pathogenic	554471	rs761793564	4:996842-996843	4:1003054-1003055
43	IDUA	NM_000203.5(IDUA):c.876del (p.Asp292fs)	deletion	Pathogenic/Likely pathogenic	456720	rs1553917209	4:995853-995853	4:1002065-1002065
44	IDUA	NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)	SNV	Pathogenic/Likely pathogenic	496861	rs772416503	4:996908-996908	4:1003120-1003120
45	IDUA	NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	SNV	Pathogenic/Likely pathogenic	167190	rs199801029	4:996063-996063	4:1002275-1002275
46	IDUA	NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)	deletion	Pathogenic/Likely pathogenic	195040	rs794727240	4:981629-981630	4:987841-987842
47	IDUA	NM_000203.5(IDUA):c.1650+5G>A	SNV	Pathogenic/Likely pathogenic	92634	rs398123256	4:997263-997263	4:1003475-1003475
48	IDUA	NM_000203.5(IDUA):c.299+1G>T	SNV	Pathogenic/Likely pathogenic	92639	rs398123259	4:981738-981738	4:987950-987950
49	IDUA	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	SNV	Pathogenic/Likely pathogenic	265418	rs148789453	4:995590-995590	4:1001802-1001802
50	IDUA	NM_000203.5(IDUA):c.590-7G>A	SNV	Pathogenic/Likely pathogenic	222996	rs762411583	4:995460-995460	4:1001672-1001672