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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: Spinocerebellar Degenerations (D013132)
..Starting node ..Spinocerebellar Ataxia 29 (C537206)
Child Nodes:
Sister 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
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10508

Name:

Spinocerebellar Ataxia 29

Definition:

Alternative IDs:

OMIM:117360

ParentIDs:

MESH:D013132

TreeNumbers:

C10.228.140.252.700/C537206 |C10.228.854.787/C537206 |C10.574.500.825/C537206 |C16.320.400.780/C537206

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537206
MeSH: C537206
OMIM: 117360;

Genes: ITPR1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003577	Congenital onset
3	HP:0002335	Agenesis of cerebellar vermis
4	HP:0002136	Broad-based gait
5	HP:0006855	Cerebellar vermis atrophy
6	HP:0100543	Cognitive impairment
7	HP:0001260	Dysarthria
8	HP:0002075	Dysdiadochokinesis
9	HP:0001310	Dysmetria
10	HP:0002080	Intention tremor
11	HP:0002070	Limb ataxia
12	HP:0001270	Motor delay
13	HP:0002470	Nonprogressive cerebellar ataxia
14	HP:0000639	Nystagmus
15	HP:0003812	Phenotypic variability

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_002222.5(ITPR1):c.830G>T (p.Ser277Ile)	3708	ITPR1	Likely pathogenic	863224882	RCV000198932;	N	MedGen:C1861732,OMIM:117360,ORPHA:208513	3	4687387	4687387	NM_002222.5:c.830G>T	NP_002213.5:p.Ser277Ile	NC_000003.11:g.4687387G>T	-	C1861732 117360 Spinocerebellar ataxia 29
NM_001168272.1(ITPR1):c.1759A>G (p.Asn587Asp)	3708	ITPR1	Pathogenic	397514536	RCV000032772;	N	MedGen:C1861732,OMIM:117360,ORPHA:208513	3	4709151	4709151	NM_001168272.1:c.1759A>G	NP_001161744.1:p.Asn587Asp	NC_000003.11:g.4709151A>G	OMIM Allelic Variant:147265.0004	C1861732 117360 Spinocerebellar ataxia 29
NM_001168272.1(ITPR1):c.4639G>A (p.Val1547Met)	3708	ITPR1	Pathogenic	397514535	RCV000032771;	N	MedGen:C1861732,OMIM:117360,ORPHA:208513	3	4747877	4747877	NM_001168272.1:c.4639G>A	NP_001161744.1:p.Val1547Met	NC_000003.11:g.4747877G>A	OMIM Allelic Variant:147265.0003	C1861732 117360 Spinocerebellar ataxia 29