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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: Cerebellar Diseases (D002526)
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Spinal Cord Diseases (D013118)
..Starting node ..Spinocerebellar Degenerations (D013132)
Child Nodes:
........Corneal cerebellar syndrome (C535472)
........Friedreich Ataxia (D005621) 6
........Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
........Hereditary spinal ataxia (C531684)
........Infantile onset spinocerebellar ataxia (C535523) 1
........Mousa Al din Al Nassar syndrome (C536989)
........Myoclonic Cerebellar Dyssynergia (D002527) 1
........Olivopontocerebellar Atrophies (D009849) 15
........Posterior column ataxia (C536342)
........Sensorimotor neuropathy with ataxia, autosomal dominant (C537197)
........Spinocerebellar ataxia 13 (C537195)
........Spinocerebellar ataxia 14 (C537196)
........Spinocerebellar ataxia 19 (C537198)
........Spinocerebellar ataxia 21 (C537200)
........Spinocerebellar ataxia 22 (C542540)
........Spinocerebellar ataxia 23 (C537201)
........Spinocerebellar ataxia 27 (C537204)
........Spinocerebellar ataxia 28 (C537205)
........Spinocerebellar Ataxia 29 (C537206)
........Spinocerebellar ataxia 8 (C537307)
........Spinocerebellar ataxia, autosomal recessive 1 (C537308)
........Spinocerebellar Ataxia, Autosomal Recessive 2 (C565865)
........Spinocerebellar ataxia, autosomal recessive 3 (C537309)
........Spinocerebellar ataxia, autosomal recessive 4 (C537310)
........Spinocerebellar ataxia, autosomal recessive 5 (C537311)
........Spinocerebellar ataxia, autosomal recessive 6 (C537312)
........Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (C537313)
........Spinocerebellar ataxia, X-linked, 2 (C537314)
........Spinocerebellar ataxia, X-linked, 4 (C537316)
........Spinocerebellar Ataxias (D020754) 34
Sister Nodes:
..Amyotrophic Lateral Sclerosis (D000690) 21
..Epidural Abscess (D020802)
..Muscular Atrophy, Spinal (D009134) 33
..Myelitis (D009187) 6
..Pneumorrhachis (D063205)
..Poliomyelitis (D011051) 2
..Spinal Cord Compression (D013117)
..Spinal Cord Injuries (D013119) 3
..Spinal Cord Neoplasms (D013120) 1
..Spinal Cord Vascular Diseases (D020758) 3
..Spinal intradural arachnoid cysts (C536878)
..Spinocerebellar Degenerations (D013132) 85
..Stiff-Person Syndrome (D016750)
..Subacute Combined Degeneration (D052879)
..Syringomyelia (D013595) 3
..Tabes Dorsalis (D013606) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10533

Name:

Spinocerebellar Degenerations

Definition:

A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.

Alternative IDs:

OMIM:248800

ParentIDs:

MESH:D002526|MESH:D013118|MESH:D020271

TreeNumbers:

C10.228.140.252.700 |C10.228.854.787 |C10.574.500.825 |C16.320.400.780

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D013132
MeSH: D013132
OMIM: 248800;

Genes: SIL1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0003687	Centrally nucleated skeletal muscle fibers
5	HP:0008278	Cerebellar cortical atrophy
6	HP:0002673	Coxa valga
7	HP:0002967	Cubitus valgus
8	HP:0000519	Developmental cataract
9	HP:0001260	Dysarthria
10	HP:0003236	Elevated circulating creatine kinase concentration
11	HP:0001508	Failure to thrive
12	HP:0001371	Flexion contracture
13	HP:0002066	Gait ataxia
14	HP:0001290	Generalized hypotonia
15	HP:0001263	Global developmental delay
16	HP:0000815	Hypergonadotropic hypogonadism
17	HP:0001249	Intellectual disability
18	HP:0002808	Kyphosis
19	HP:0002070	Limb ataxia
20	HP:0000252	Microcephaly
21	HP:0003198	Myopathy
22	HP:0000639	Nystagmus
23	HP:0001763	Pes planus
24	HP:0003323	Progressive muscle weakness
25	HP:0002650	Scoliosis
26	HP:0010049	Short metacarpal
27	HP:0010743	Short metatarsal
28	HP:0004322	Short stature
29	HP:0003202	Skeletal muscle atrophy
30	HP:0001257	Spasticity
31	HP:0000486	Strabismus

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_001037633.1(SIL1):c.1370T>C (p.Leu457Pro)	64374	SIL1	Pathogenic	119456967	RCV000002746;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138282822	138282822	NM_001037633.1:c.1370T>C	NP_001032722.1:p.Leu457Pro	NC_000005.9:g.138282822A>G	OMIM Allelic Variant:608005.0007	C0024814 248800 Marinesco-Sjögren syndrome
NM_001037633.1(SIL1):c.1312C>T (p.Gln438Ter)	64374	SIL1	Pathogenic	119456966	RCV000002745; RCV000082150;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006; MedGen:CN221809	5	138282880	138282880	NM_001037633.1:c.1312C>T	NP_001032722.1:p.Gln438Ter	NC_000005.9:g.138282880G>A	HGMD:CM064272,OMIM Allelic Variant:608005.0006	C0024814 248800 Marinesco-Sjögren syndrome; CN221809 not provided
NM_022464.4(SIL1):c.865_1029del	64374	SIL1	Pathogenic	777752978	RCV000002744;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138286859	138286859	NM_022464.4:c.865_1029del		NC_000005.9:g.138286859C>T	OMIM Allelic Variant:608005.0005	C0024814 248800 Marinesco-Sjögren syndrome
NM_001037633.1(SIL1):c.936dupG (p.Leu313Alafs)	64374	SIL1	Pathogenic	587776544	RCV000002747;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138286953	138286953	NM_001037633.1:c.936dupG	NP_001032722.1:p.Leu313Alafs		OMIM Allelic Variant:608005.0008	C0024814 248800 Marinesco-Sjögren syndrome
NM_022464.4(SIL1):c.645+2T>C	64374	SIL1	Pathogenic	548535414	RCV000002742;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138362488	138362488	NM_022464.4:c.645+2T>C		NC_000005.9:g.138362488A>G	OMIM Allelic Variant:608005.0003	C0024814 248800 Marinesco-Sjögren syndrome
NM_022464.4(SIL1):c.645+1G>A	64374	SIL1	Pathogenic	794726659	RCV000002741;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138362489	138362489	NM_022464.4:c.645+1G>A		NC_000005.9:g.138362489C>T	OMIM Allelic Variant:608005.0002	C0024814 248800 Marinesco-Sjögren syndrome
NM_001037633.1(SIL1):c.603_607delGAAGA (p.Glu201Aspfs)	64374	SIL1	Pathogenic	869320725	RCV000002748;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138362528	138362532	NM_001037633.1:c.603_607delGAAGA	NP_001032722.1:p.Glu201Aspfs		OMIM Allelic Variant:608005.0009	C0024814 248800 Marinesco-Sjögren syndrome
NM_001037633.1(SIL1):c.460C>T (p.Gln154Ter)	64374	SIL1	Pathogenic	774441811	RCV000179525;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138362675	138362675	NM_001037633.1:c.460C>T	NP_001032722.1:p.Gln154Ter	NC_000005.9:g.138362675G>A	-	C0024814 248800 Marinesco-Sjögren syndrome
NM_001037633.1(SIL1):c.331C>T (p.Arg111Ter)	64374	SIL1	Pathogenic	119456965	RCV000002743;	N	MedGen:C0024814,OMIM:248800,ORPHA:559,SNOMED CT:80734006	5	138386649	138386649	NM_001037633.1:c.331C>T	NP_001032722.1:p.Arg111Ter	NC_000005.9:g.138386649G>A	OMIM Allelic Variant:608005.0004	C0024814 248800 Marinesco-Sjögren syndrome