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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: Mucolipidoses (D009081)
..Starting node ..Neuraminidase 1 deficiency (C537366)
Child Nodes:
Sister Nodes:
..Microvillus inclusion disease (C537470)
..Mucolipidosis 2 (C538602) 1
..Mucolipidosis II Alpha Beta (C567100)
..Mucolipidosis III Alpha Beta, Atypical (C567099)
..Mucolipidosis III Gamma (C565367)
..Mucolipidosis type 3 A (C537367) 1
..Nephrosialidosis (C562606)
..Neuraminidase 1 deficiency (C537366)
..Sialidosis, Type I (C564955)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7924

Name:

Neuraminidase 1 deficiency

Definition:

Alternative IDs:

OMIM:256550

ParentIDs:

MESH:D009081

TreeNumbers:

C05.116.198.371/C537366 |C10.228.140.163.100.435.590/C537366 |C16.320.565.189.435.590/C537366 |C16.320.565.202.670/C537366 |C16.320.565.595.554.590/C537366 |C18.452.132.100.435.590/C537366 |C18.452.648.189.435.590/C537366 |C18.452.648.202.670/C537366 |C18.452.64

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C537366
MeSH: C537366
OMIM: 256550;

Genes: NEU1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003461	Increased urinary O-linked sialopeptides
3	HP:0001541	Ascites
4	HP:0004333	Bone-marrow foam cells
5	HP:0001640	Cardiomegaly
6	HP:0001638	Cardiomyopathy
7	HP:0000518	Cataract
8	HP:0010729	Cherry red spot of the macula
9	HP:0000280	Coarse facial features
10	HP:0001310	Dysmetria
11	HP:0000943	Dysostosis multiplex
12	HP:0010655	Epiphyseal stippling
13	HP:0000282	Facial edema
14	HP:0001290	Generalized hypotonia
15	HP:0002240	Hepatomegaly
16	HP:0001789	Hydrops fetalis
17	HP:0001347	Hyperreflexia
18	HP:0001252	Hypotonia
19	HP:0000023	Inguinal hernia
20	HP:0001249	Intellectual disability
21	HP:0001324	Muscle weakness
22	HP:0001336	Myoclonus
23	HP:0000639	Nystagmus
24	HP:0000529	Progressive visual loss
25	HP:0000093	Proteinuria
26	HP:0001250	Seizure
27	HP:0000407	Sensorineural hearing impairment
28	HP:0004322	Short stature
29	HP:0003202	Skeletal muscle atrophy
30	HP:0001350	Slurred speech
31	HP:0001744	Splenomegaly
32	HP:0012061	Urinary excretion of sialylated oligosaccharides
33	HP:0001922	Vacuolated lymphocytes

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_000434.3(NEU1):c.1170C>G (p.Tyr390Ter)	4758	NEU1	Pathogenic	746607723	RCV000202594;	N	MedGen:C0268226,OMIM:256550; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	6	31827574	31827574	NM_000434.3:c.1170C>G	NP_000425.1:p.Tyr390Ter	NC_000006.11:g.31827574G>C	-	C0455988 236750 Non-immune hydrops fetalis; C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.1088T>C (p.Leu363Pro)	4758	NEU1	Pathogenic	193922915	RCV000002551;	N	MedGen:C0268226,OMIM:256550	6	31827656	31827656	NM_000434.3:c.1088T>C	NP_000425.1:p.Leu363Pro	NC_000006.11:g.31827656A>G	OMIM Allelic Variant:608272.0005	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.893C>T (p.Ala298Val)	4758	NEU1	Pathogenic	104893981	RCV000002561;	N	MedGen:C0268226,OMIM:256550	6	31827947	31827947	NM_000434.3:c.893C>T	NP_000425.1:p.Ala298Val	NC_000006.11:g.31827947G>A	OMIM Allelic Variant:608272.0015	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.779T>A (p.Phe260Tyr)	4758	NEU1	Pathogenic	104893977	RCV000002550;	N	MedGen:C0268226,OMIM:256550	6	31828235	31828235	NM_000434.3:c.779T>A	NP_000425.1:p.Phe260Tyr	NC_000006.11:g.31828235A>T	OMIM Allelic Variant:608272.0004	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.718T>C (p.Trp240Arg)	4758	NEU1	Pathogenic	104893978	RCV000002557;	N	MedGen:C0268226,OMIM:256550	6	31828296	31828296	NM_000434.3:c.718T>C	NP_000425.1:p.Trp240Arg	NC_000006.11:g.31828296A>G	OMIM Allelic Variant:608272.0011	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.674G>C (p.Arg225Pro)	4758	NEU1	Pathogenic	104893980	RCV000002560;	N	MedGen:C0268226,OMIM:256550	6	31828340	31828340	NM_000434.3:c.674G>C	NP_000425.1:p.Arg225Pro	NC_000006.11:g.31828340C>G	OMIM Allelic Variant:608272.0014	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.353-2A>G	4758	NEU1	Pathogenic	864309513	RCV000202579;	N	MedGen:C0268226,OMIM:256550; MedGen:C0455988,OMIM:236750, Orphanet:ORPHA363999,SNOMED CT:276509008	6	31829229	31829229	NM_000434.3:c.353-2A>G		NC_000006.11:g.31829229T>C	-	C0455988 236750 Non-immune hydrops fetalis; C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.272T>G (p.Leu91Arg)	4758	NEU1	Pathogenic	104893972	RCV000002548;	N	MedGen:C0268226,OMIM:256550	6	31829856	31829856	NM_000434.3:c.272T>G	NP_000425.1:p.Leu91Arg	NC_000006.11:g.31829856A>C	OMIM Allelic Variant:608272.0002	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.239C>T (p.Pro80Leu)	4758	NEU1	Pathogenic	104893985	RCV000002556;	N	MedGen:C0268226,OMIM:256550	6	31829889	31829889	NM_000434.3:c.239C>T	NP_000425.1:p.Pro80Leu	NC_000006.11:g.31829889G>A	OMIM Allelic Variant:608272.0010	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.87G>A (p.Trp29Ter)	4758	NEU1	Pathogenic	104893984	RCV000002555;	N	MedGen:C0268226,OMIM:256550	6	31830467	31830467	NM_000434.3:c.87G>A	NP_000425.1:p.Trp29Ter	NC_000006.11:g.31830467C>T	OMIM Allelic Variant:608272.0009	C0268226 256550 Sialidosis, type II
NM_000434.3(NEU1):c.69G>A (p.Trp23Ter)	4758	NEU1	Pathogenic	104893986	RCV000002562;	N	MedGen:C0268226,OMIM:256550	6	31830485	31830485	NM_000434.3:c.69G>A	NP_000425.1:p.Trp23Ter	NC_000006.11:g.31830485C>T	OMIM Allelic Variant:608272.0016	C0268226 256550 Sialidosis, type II