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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mucopolysaccharidoses (D009083)
..Starting node ..Mucopolysaccharidosis I (D008059)
Child Nodes:
Sister Nodes:
..Hyaluronidase Deficiency (C563209)
..Mucopolysaccharidoses, Unclassified Types (C562442)
..Mucopolysaccharidosis I (D008059)
..Mucopolysaccharidosis II (D016532)
..Mucopolysaccharidosis III (D009084)
..Mucopolysaccharidosis IV (D009085) 1
..Mucopolysaccharidosis Type VIII (C563094)
..Mucopolysaccharidosis VI (D009087)
..Mucopolysaccharidosis VII (D016538)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7431

Name:

Mucopolysaccharidosis I

Definition:

Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.

Alternative IDs:

OMIM:607014|OMIM:607015|OMIM:607016

ParentIDs:

MESH:D009083

TreeNumbers:

C16.320.565.202.715.640 |C16.320.565.595.600.640 |C17.300.550.575.640 |C18.452.648.202.715.640 |C18.452.648.595.600.640

Synonyms:

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D008059
MeSH: D008059
OMIM: 607014;

Genes: IDUA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011400	Abnormal CNS myelination
3	HP:0001659	Aortic regurgitation	HP:0040284
4	HP:0004586	Biconcave vertebral bodies
5	HP:0000455	Broad nasal tip
6	HP:0003320	C1-C2 subluxation	HP:0040284
7	HP:0004490	Calvarial hyperostosis
8	HP:0001638	Cardiomyopathy
9	HP:0000280	Coarse facial features
10	HP:0012185	Constrictive median neuropathy
11	HP:0002673	Coxa valga
12	HP:0005280	Depressed nasal bridge
13	HP:0005019	Diaphyseal thickening
14	HP:0000943	Dysostosis multiplex
15	HP:0001706	Endocardial fibroelastosis	HP:0040284
16	HP:0030812	Enlarged tonsils
17	HP:0002869	Flared iliac wing
18	HP:0001371	Flexion contracture
19	HP:0000293	Full cheeks
20	HP:0000212	Gingival overgrowth
21	HP:0000501	Glaucoma	HP:0040283
22	HP:0001263	Global developmental delay
23	HP:0000365	Hearing impairment	HP:0040283
24	HP:0002240	Hepatomegaly
25	HP:0001433	Hepatosplenomegaly
26	HP:0001007	Hirsutism
27	HP:0000238	Hydrocephalus
28	HP:0008802	Hypoplasia of the femoral head
29	HP:0003311	Hypoplasia of the odontoid process
30	HP:0000023	Inguinal hernia
31	HP:0001249	Intellectual disability
32	HP:0002680	J-shaped sella turcica
33	HP:0001387	Joint stiffness
34	HP:0002808	Kyphosis
35	HP:0000256	Macrocephaly
36	HP:0000691	Microdontia
37	HP:0001653	Mitral regurgitation	HP:0040284
38	HP:0002180	Neurodegeneration
39	HP:0007759	Opacification of the corneal stroma
40	HP:0002344	Progressive neurologic deterioration
41	HP:0410018	Recurrent ear infections
42	HP:0002205	Recurrent respiratory infections	HP:0040284
43	HP:0000546	Retinal degeneration	HP:0040283
44	HP:0000894	Short clavicles
45	HP:0000470	Short neck
46	HP:0004322	Short stature
47	HP:0001744	Splenomegaly
48	HP:0012471	Thick vermilion border
49	HP:0001537	Umbilical hernia
50	HP:0003541	Urinary glycosaminoglycan excretion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000203.4(IDUA):c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del)	-1	-	Pathogenic	398123260	RCV000173083; RCV000078393; RCV000208599;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579; MedGen:CN221809	4	980918	980929	NM_000203.4:c.46_57delTCGCTCCTGGCC	NP_000194.2:p.Ser16_Ala19del	NC_000004.11:g.980918_980929delTCGCTCCTGGCC	HGMD:CD941709	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1; CN221809 not provided
NM_000203.4(IDUA):c.152G>A (p.Gly51Asp)	-1	-	Pathogenic	794726877	RCV000173082; RCV000208594;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579	4	981024	981024	NM_000203.4:c.152G>A	NP_000194.2:p.Gly51Asp	NC_000004.11:g.981024G>A	-	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1
NM_000203.4(IDUA):c.164delC (p.Pro55Argfs)	-1	-	Pathogenic	727503966	RCV000175549; RCV000153375;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	981602	981602	NM_000203.4:c.164delC	NP_000194.2:p.Pro55Argfs	NC_000004.11:g.981602delC	-	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.191_192delAC (p.Tyr64Cysfs)	-1	-	Pathogenic	794727240	RCV000175553;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	981629	981630	NM_000203.4:c.191_192delAC	NP_000194.2:p.Tyr64Cysfs	NC_000004.11:g.981629_981630delAC	-	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.192C>A (p.Tyr64Ter)	-1	-	Pathogenic	121965022	RCV000012689;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	981630	981630	NM_000203.4:c.192C>A	NP_000194.2:p.Tyr64Ter	NC_000004.11:g.981630C>A	OMIM Allelic Variant:252800.0006	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.208C>T (p.Gln70Ter)	-1	-	Pathogenic	121965020	RCV000012684; RCV000185563; RCV000185562; RCV000078386; RCV000190595;	N	MedGen:C0026708,OMIM:607016,ORPHA:93474,SNOMED CT:73123008; MedGen:C0086431,OMIM:607015,ORPHA:93476,SNOMED CT:26745009; MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579; MedGen:CN221809	4	981646	981646	NM_000203.4:c.208C>T	NP_000194.2:p.Gln70Ter	NC_000004.11:g.981646C>T	HGMD:CM930424,OMIM Allelic Variant:252800.0002	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1; C0086431 607015 Mucopolysaccharidosis, MPS-I-H/S; C0026708 607016 Mucopolysaccharidosis, MPS-I-S; CN221809 not provided; C1968593 267450 Respiratory distress syndrome in premature
NM_000203.4(IDUA):c.266G>A (p.Arg89Gln)	-1	-	Pathogenic	121965029	RCV000169784; RCV000012697; RCV000208598;	N	MedGen:C0086431,OMIM:607015,ORPHA:93476,SNOMED CT:26745009; MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579	4	981704	981704	NM_000203.4:c.266G>A	NP_000194.2:p.Arg89Gln	NC_000004.11:g.981704G>A	OMIM Allelic Variant:252800.0015	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1; C0086431 607015 Mucopolysaccharidosis, MPS-I-H/S; C1968593 267450 Respiratory distress syndrome in premature infants
NM_000203.4(IDUA):c.299+1G>T	-1	-	Pathogenic	398123259	RCV000175551; RCV000078389;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	981738	981738	NM_000203.4:c.299+1G>T		NC_000004.11:g.981738G>T	-	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.494-1G>C	3425	IDUA	Pathogenic	794727701	RCV000178734;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	995255	995255	NM_000203.4:c.494-1G>C		NC_000004.11:g.995255G>C	-	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.501C>G (p.Tyr167Ter)	3425	IDUA	Pathogenic	200726100	RCV000178733; RCV000078394;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	995263	995263	NM_000203.4:c.501C>G	NP_000194.2:p.Tyr167Ter	NC_000004.11:g.995263C>G	-	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.523T>C (p.Trp175Arg)	3425	IDUA	Likely pathogenic	-1	RCV000211578;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	995285	995285	NM_000203.4:c.523T>C	NP_000194.2:p.Trp175Arg		Genomic Research Center,Shahid Beheshti University of Medical Sciences:94-1107	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.612_615dupCTGC (p.Ser206Leufs)	3425	IDUA	Pathogenic	-1	RCV000211625;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	995489	995492	NM_000203.4:c.612_615dupCTGC	NP_000194.2:p.Ser206Leufs		Genomic Research Center,Shahid Beheshti University of Medical Sciences:94-1241	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.613_617dupTGCTC (p.Glu207Alafs)	3425	IDUA	Pathogenic	786200915	RCV000012696; RCV000208610;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579	4	995490	995494	NM_000203.4:c.613_617dupTGCTC	NP_000194.2:p.Glu207Alafs	NC_000004.11:g.995490_995494dupTGCTC	OMIM Allelic Variant:252800.0014	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1
NM_000203.4(IDUA):c.928C>T (p.Gln310Ter)	3425	IDUA	Pathogenic	121965023	RCV000012690;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	995905	995905	NM_000203.4:c.928C>T	NP_000194.2:p.Gln310Ter	NC_000004.11:g.995905C>T	OMIM Allelic Variant:252800.0007	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.972+1G>A	3425	IDUA	Pathogenic	794727840	RCV000179734;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	995950	995950	NM_000203.4:c.972+1G>A		NC_000004.11:g.995950G>A	-	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.979G>C (p.Ala327Pro)	3425	IDUA	Pathogenic	199801029	RCV000180108; RCV000153376; RCV000208605;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579; MedGen:CN221809	4	996063	996063	NM_000203.4:c.979G>C	NP_000194.2:p.Ala327Pro	NC_000004.11:g.996063G>C	HGMD:CM950680	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1; CN221809 not provided
NM_000203.4(IDUA):c.1037T>G (p.Leu346Arg)	3425	IDUA	Pathogenic	121965033	RCV000012703; RCV000012702;	N	MedGen:C0086431,OMIM:607015,ORPHA:93476,SNOMED CT:26745009; MedGen:C0086795,OMIM:607014,ORPHA:93473	4	996121	996121	NM_000203.4:c.1037T>G	NP_000194.2:p.Leu346Arg	NC_000004.11:g.996121T>G	OMIM Allelic Variant:252800.0020	C0086795 607014 Hurler syndrome; C0086431 607015 Mucopolysaccharidosis, MPS-I-H/S; C1968593 267450 Respiratory distress syndrome in premature infants
NM_000203.4(IDUA):c.1045G>A (p.Asp349Asn)	3425	IDUA	Pathogenic	368454909	RCV000180110; RCV000078370;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	996129	996129	NM_000203.4:c.1045G>A	NP_000194.2:p.Asp349Asn	NC_000004.11:g.996129G>A	HGMD:CM950681	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.1096A>C (p.Thr366Pro)	3425	IDUA	Pathogenic	121965024	RCV000012691;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	996180	996180	NM_000203.4:c.1096A>C	NP_000194.2:p.Thr366Pro	NC_000004.11:g.996180A>C	OMIM Allelic Variant:252800.0008	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.1205G>A (p.Trp402Ter)	3425	IDUA	Pathogenic	121965019	RCV000012683; RCV000078374; RCV000208609;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579; MedGen:CN221809	4	996535	996535	NM_000203.4:c.1205G>A	NP_000194.2:p.Trp402Ter	NC_000004.11:g.996535G>A	HGMD:CM920372,OMIM Allelic Variant:252800.0001	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1; CN221809 not provided
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg)	3425	IDUA	Benign;Pathogenic;Uncertain significance	11934801	RCV000012686; RCV000078375;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN169374	4	996555	996555	NM_000203.4:c.1225G>C	NP_000194.2:p.Gly409Arg	NC_000004.11:g.996555G>C	HGMD:CM930428,OMIM Allelic Variant:252800.0005	C0086795 607014 Hurler syndrome; CN169374 not specified
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg)	3425	IDUA	Benign;Pathogenic;Uncertain significance	11934801	RCV000012686; RCV000078375;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN169374	4	996555	996555	NM_000203.4:c.1225G>C	NP_000194.2:p.Gly409Arg	NC_000004.11:g.996555G>C	HGMD:CM930428,OMIM Allelic Variant:252800.0005	C0086795 607014 Hurler syndrome; CN169374 not specified
NM_000203.4(IDUA):c.1402+1G>C	3425	IDUA	Pathogenic	398123254	RCV000180476; RCV000078379;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	996733	996733	NM_000203.4:c.1402+1G>C		NC_000004.11:g.996733G>C	-	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.1469T>C (p.Leu490Pro)	3425	IDUA	Pathogenic	121965027	RCV000173657; RCV000012694; RCV000078381;	N	MedGen:C0086431,OMIM:607015,ORPHA:93476,SNOMED CT:26745009; MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	996890	996890	NM_000203.4:c.1469T>C	NP_000194.2:p.Leu490Pro	NC_000004.11:g.996890T>C	HGMD:CM950685,OMIM Allelic Variant:252800.0012	C0086795 607014 Hurler syndrome; C0086431 607015 Mucopolysaccharidosis, MPS-I-H/S; CN221809 not provided; C1968593 267450 Respiratory distress syndrome in premature infants
NM_000203.4(IDUA):c.1529C>G (p.Pro510Arg)	3425	IDUA	Likely pathogenic	794727017	RCV000173985;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	997137	997137	NM_000203.4:c.1529C>G	NP_000194.2:p.Pro510Arg	NC_000004.11:g.997137C>G	-	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.1598C>G (p.Pro533Arg)	3425	IDUA	Pathogenic	121965021	RCV000012685; RCV000208595;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN205325, Orphanet:ORPHA579	4	997206	997206	NM_000203.4:c.1598C>G	NP_000194.2:p.Pro533Arg	NC_000004.11:g.997206C>G	OMIM Allelic Variant:252800.0003	C0086795 607014 Hurler syndrome; CN205325 Mucopolysaccharidosis type 1
NM_000203.4(IDUA):c.1614delG (p.His539Thrfs)	3425	IDUA	Pathogenic	727503967	RCV000173986; RCV000153377;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	997222	997222	NM_000203.4:c.1614delG	NP_000194.2:p.His539Thrfs	NC_000004.11:g.997222delG	HGMD:CD931013	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.1650+5G>A	3425	IDUA	Pathogenic	398123256	RCV000173987; RCV000078383;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	997263	997263	NM_000203.4:c.1650+5G>A		NC_000004.11:g.997263G>A	HGMD:CS022107	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.1799delC (p.Ser600Terfs)	3425	IDUA	Pathogenic	398123258	RCV000174452; RCV000078385;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473; MedGen:CN221809	4	997871	997871	NM_000203.4:c.1799delC	NP_000194.2:p.Ser600Terfs	NC_000004.11:g.997871delC	-	C0086795 607014 Hurler syndrome; CN221809 not provided
NM_000203.4(IDUA):c.1861C>T (p.Arg621Ter)	3425	IDUA	Pathogenic	121965025	RCV000012692;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	998080	998080	NM_000203.4:c.1861C>T	NP_000194.2:p.Arg621Ter	NC_000004.11:g.998080C>T	OMIM Allelic Variant:252800.0010	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.1874A>G (p.Tyr625Cys)	3425	IDUA	Pathogenic	587779401	RCV000087088;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	998093	998093	NM_000203.4:c.1874A>G	NP_000194.2:p.Tyr625Cys	NC_000004.11:g.998093A>G	-	C0086795 607014 Hurler syndrome
NM_000203.4(IDUA):c.1962A>T (p.Ter654Cys)	3425	IDUA	Pathogenic	199794428	RCV000012686;	N	MedGen:C0086795,OMIM:607014,ORPHA:93473	4	998181	998181	NM_000203.4:c.1962A>T	NP_000194.2:p.Ter654Cys	NC_000004.11:g.998181A>T	OMIM Allelic Variant:252800.0005	C0086795 607014 Hurler syndrome; CN169374 not specified