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Hello! Guest! Please Login or Register! Clinician Mode

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: Diseases (C)
Parent Node: Mucolipidosis type 3 A (C537367)
..Starting node ..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Child Nodes:
Sister Nodes:
..MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7425

Name:

MUCOLIPIDOSIS III ALPHA/BETA

Definition:

Alternative IDs:

ParentIDs:

MESH:C537367

TreeNumbers:

C05.116.198.371/C537367/252600 |C10.228.140.163.100.435.590/C537367/252600 |C16.320.565.189.435.590/C537367/252600 |C16.320.565.202.670/C537367/252600 |C16.320.565.595.554.590/C537367/252600 |C18.452.132.100.435.590/C537367/252600 |C18.452.648.189.435.590/C537

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 252600
MeSH: 252600
OMIM: 252600;

Genes: GNPTAB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001659	Aortic regurgitation
3	HP:0000885	Broad ribs
4	HP:0001498	Carpal bone hypoplasia
5	HP:0000280	Coarse facial features
6	HP:0012185	Constrictive median neuropathy
7	HP:0001363	Craniosynostosis
8	HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase
9	HP:0000943	Dysostosis multiplex
10	HP:0000484	Hyperopic astigmatism
11	HP:0003333	Increased serum beta-hexosaminidase
12	HP:0003538	Increased serum iduronate sulfatase level
13	HP:0001249	Intellectual disability
14	HP:0004236	Irregular carpal bones
15	HP:0002680	J-shaped sella turcica
16	HP:0000303	Mandibular prognathia
17	HP:0007759	Opacification of the corneal stroma
18	HP:0000546	Retinal degeneration
19	HP:0002650	Scoliosis
20	HP:0003182	Shallow acetabular fossae
21	HP:0003026	Short long bone
22	HP:0000773	Short ribs
23	HP:0004322	Short stature
24	HP:0006162	Soft tissue swelling of interphalangeal joints
25	HP:0001328	Specific learning disability
26	HP:0001171	Split hand
27	HP:0001072	Thickened skin

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_024312.4(GNPTAB):c.3741_3744delAGAA (p.Glu1248Leufs)	79158	GNPTAB	Pathogenic	281865022	RCV000087105; RCV000032345;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102140969	102140972	NM_024312.4:c.3741_3744delAGAA	NP_077288.2:p.Glu1248Leufs	NC_000012.11:g.102140969_102140972delTTCT	-	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3613C>T (p.Arg1205Ter)	79158	GNPTAB	Pathogenic	35333334	RCV000031986; RCV000032344;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102142959	102142959	NM_024312.4:c.3613C>T	NP_077288.2:p.Arg1205Ter	NC_000012.11:g.102142959G>A	-	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3565C>T (p.Arg1189Ter)	79158	GNPTAB	Pathogenic	137852897	RCV000002892; RCV000002891;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102147187	102147187	NM_024312.4:c.3565C>T	NP_077288.2:p.Arg1189Ter	NC_000012.11:g.102147187G>A	OMIM Allelic Variant:607840.0004	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs)	79158	GNPTAB	Pathogenic	34002892	RCV000002900; RCV000002899; RCV000082192;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102147248	102147249	NM_024312.4:c.3503_3504delTC	NP_077288.2:p.Leu1168Glnfs	NC_000012.11:g.102147248_102147249delGA	HGMD:CD060604,OMIM Allelic Variant:607840.0011	C2673377 252500 I cell disease; CN221809 not provided; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3458A>G (p.Asn1153Ser)	79158	GNPTAB	Pathogenic	281865019	RCV000032341;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102147294	102147294	NM_024312.4:c.3458A>G	NP_077288.2:p.Asn1153Ser	NC_000012.11:g.102147294T>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3443_3446delTTTG (p.Val1148Alafs)	79158	GNPTAB	Pathogenic	281865018	RCV000032340;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102147306	102147309	NM_024312.4:c.3443_3446delTTTG	NP_077288.2:p.Val1148Alafs	NC_000012.11:g.102147306_102147309delCAAA	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.3335+6T>G	79158	GNPTAB	Pathogenic	34788341	RCV000002902; RCV000032336; RCV000031982;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C0086647,OMIM:252900,SNOMED CT:41572006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102151344	102151344	NM_024312.4:c.3335+6T>G		NC_000012.11:g.102151344A>C	OMIM Allelic Variant:607840.0013	C2673377 252500 I cell disease; C0086647 252900 Mucopolysaccharidosis, MPS-III-A; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2867A>G (p.His956Arg)	79158	GNPTAB	Pathogenic	281865005	RCV000032327;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102155390	102155390	NM_024312.4:c.2867A>G	NP_077288.2:p.His956Arg	NC_000012.11:g.102155390T>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2866C>T (p.His956Tyr)	79158	GNPTAB	Pathogenic	281865004	RCV000032326;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102155391	102155391	NM_024312.4:c.2866C>T	NP_077288.2:p.His956Tyr	NC_000012.11:g.102155391G>A	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2777A>C (p.Gln926Pro)	79158	GNPTAB	Pathogenic	281865002	RCV000032325;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102155480	102155480	NM_024312.4:c.2777A>C	NP_077288.2:p.Gln926Pro	NC_000012.11:g.102155480T>G	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2715+2T>G	79158	GNPTAB	Pathogenic	281865001	RCV000032324;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102157978	102157978	NM_024312.4:c.2715+2T>G		NC_000012.11:g.102157978A>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2715+1G>A	79158	GNPTAB	Pathogenic	281865031	RCV000031976;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102157979	102157979	NM_024312.4:c.2715+1G>A		NC_000012.11:g.102157979C>T	OMIM Allelic Variant:607840.0008	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2693delA (p.Lys898Serfs)	79158	GNPTAB	Pathogenic	281865000	RCV000032323;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102158002	102158002	NM_024312.4:c.2693delA	NP_077288.2:p.Lys898Serfs	NC_000012.11:g.102158002delT	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2574_2575delGA (p.Asn859Glnfs)	79158	GNPTAB	Pathogenic	281865029	RCV000031974;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102158120	102158121	NM_024312.4:c.2574_2575delGA	NP_077288.2:p.Asn859Glnfs	NC_000012.11:g.102158120_102158121delTC	OMIM Allelic Variant:607840.0009	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.2354T>G (p.Leu785Trp)	79158	GNPTAB	Pathogenic	144060383	RCV000087104;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102158341	102158341	NM_024312.4:c.2354T>G	NP_077288.2:p.Leu785Trp	NC_000012.11:g.102158341A>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1985C>G (p.Ala662Gly)	79158	GNPTAB	Pathogenic	142172397	RCV000031970;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102158710	102158710	NM_024312.4:c.1985C>G	NP_077288.2:p.Ala662Gly	NC_000012.11:g.102158710G>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1774G>A (p.Ala592Thr)	79158	GNPTAB	Pathogenic	149390820	RCV000087103;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102158921	102158921	NM_024312.4:c.1774G>A	NP_077288.2:p.Ala592Thr	NC_000012.11:g.102158921C>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr)	79158	GNPTAB	Pathogenic	281864980	RCV000032300;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102159967	102159967	NM_024312.4:c.1514G>A	NP_077288.2:p.Cys505Tyr	NC_000012.11:g.102159967C>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1385dupA (p.Asp462Glufs)	79158	GNPTAB	Pathogenic	281864978	RCV000032298;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102161838	102161838	NM_024312.4:c.1385dupA	NP_077288.2:p.Asp462Glufs	NC_000012.11:g.102161838dupT	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1325G>A (p.Cys442Tyr)	79158	GNPTAB	Pathogenic	281864975	RCV000032294;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102161898	102161898	NM_024312.4:c.1325G>A	NP_077288.2:p.Cys442Tyr	NC_000012.11:g.102161898C>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1285-2A>G	79158	GNPTAB	Pathogenic	281864974	RCV000032293;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102161940	102161940	NM_024312.4:c.1285-2A>G		NC_000012.11:g.102161940T>C	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1220A>C (p.Asp407Ala)	79158	GNPTAB	Pathogenic	137852895	RCV000002889;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102163863	102163863	NM_024312.4:c.1220A>C	NP_077288.2:p.Asp407Ala	NC_000012.11:g.102163863T>G	OMIM Allelic Variant:607840.0002	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1208T>C (p.Ile403Thr)	79158	GNPTAB	Pathogenic	281864973	RCV000032291;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102163875	102163875	NM_024312.4:c.1208T>C	NP_077288.2:p.Ile403Thr	NC_000012.11:g.102163875A>G	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1196C>T (p.Ser399Phe)	79158	GNPTAB	Pathogenic	281865026	RCV000031967;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102163887	102163887	NM_024312.4:c.1196C>T	NP_077288.2:p.Ser399Phe	NC_000012.11:g.102163887G>A	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1120T>C (p.Phe374Leu)	79158	GNPTAB	Pathogenic	137852900	RCV000002904; RCV000002905;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576	12	102163963	102163963	NM_024312.4:c.1120T>C	NP_077288.2:p.Phe374Leu	NC_000012.11:g.102163963A>G	OMIM Allelic Variant:607840.0015	C2673377 252500 I cell disease; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1001G>A (p.Arg334Gln)	79158	GNPTAB	Pathogenic	281864970	RCV000032283;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102164296	102164296	NM_024312.4:c.1001G>A	NP_077288.2:p.Arg334Gln	NC_000012.11:g.102164296C>A,NC_000012.11:g.102164296C>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.1000C>T (p.Arg334Ter)	79158	GNPTAB	Pathogenic	281864969	RCV000032282; RCV000180686; RCV000082184;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673377,OMIM:252500,ORPHA:576; MedGen:CN221809	12	102164297	102164297	NM_024312.4:c.1000C>T	NP_077288.2:p.Arg334Ter	NC_000012.11:g.102164297G>A	HGMD:CM100334	C2673377 252500 I cell disease; CN221809 not provided; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.771G>A (p.Leu257=)	79158	GNPTAB	Pathogenic	281865025	RCV000002888; RCV000031990;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C2673375	12	102173930	102173930	NM_024312.4:c.771G>A	NP_077288.2:p.Leu257=	NC_000012.11:g.102173930C>T	OMIM Allelic Variant:607840.0001	C2673375 Mucolipidosis III alpha/beta, atypical; C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.571+3A>C	79158	GNPTAB	Pathogenic	281864960	RCV000032350;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102179787	102179787	NM_024312.4:c.571+3A>C		NC_000012.11:g.102179787T>G	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.517_518insA (p.Pro173Hisfs)	79158	GNPTAB	Pathogenic	281864957	RCV000032349;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102179843	102179844	NM_024312.4:c.517_518insA	NP_077288.2:p.Pro173Hisfs	NC_000012.11:g.102179843_102179844insT	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.242G>T (p.Trp81Leu)	79158	GNPTAB	Pathogenic	281864953	RCV000032318;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102183797	102183797	NM_024312.4:c.242G>T	NP_077288.2:p.Trp81Leu	NC_000012.11:g.102183797C>A	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.232_234delGTT (p.Val78del)	79158	GNPTAB	Pathogenic	281864952	RCV000032315;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102183805	102183807	NM_024312.4:c.232_234delGTT	NP_077288.2:p.Val78del	NC_000012.11:g.102183805_102183807delAAC	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.168T>A (p.Tyr56Ter)	79158	GNPTAB	Pathogenic	281864950	RCV000032303;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102190490	102190490	NM_024312.4:c.168T>A	NP_077288.2:p.Tyr56Ter	NC_000012.11:g.102190490A>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.44C>A (p.Ser15Tyr)	79158	GNPTAB	Pathogenic	281864947	RCV000032348;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006	12	102224410	102224410	NM_024312.4:c.44C>A	NP_077288.2:p.Ser15Tyr	NC_000012.11:g.102224410G>T	-	C0033788 252600 Pseudo-Hurler polydystrophy
NM_024312.4(GNPTAB):c.10A>C (p.Lys4Gln)	79158	GNPTAB	Pathogenic	34159654	RCV000002903; RCV000031965;	N	MedGen:C0033788,OMIM:252600,SNOMED CT:65764006; MedGen:C0086647,OMIM:252900,SNOMED CT:41572006	12	102224444	102224444	NM_024312.4:c.10A>C	NP_077288.2:p.Lys4Gln	NC_000012.11:g.102224444T>G	OMIM Allelic Variant:607840.0014	C0086647 252900 Mucopolysaccharidosis, MPS-III-A; C0033788 252600 Pseudo-Hurler polydystrophy